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Clinical Research and Public HealthIn-Press PreviewGeneticsNephrology Open Access | 10.1172/jci.insight.192062

The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype-specific

Sebastian Sewerin,1 Charlotte Aurnhammer,1 Mohamed Hamed,2 Gwladys Revêchon,3 Ria Schönauer,1 Christin Findeisen,1 Konstanze Miehle,4 Šárka Tesařová,5 Theodoros Georgomanolis,6 Carsten Bergmann,7 Constantin A. Wolff,8 Marek Kollár,9 Baris Akinci,10 David Araujo-Vilar,11 Giovanni Ceccarini,12 Éva Csajbók,13 Alessandra Gambineri,14 Martin Heni,15 Thomas Scherer,16 Iztok Štotl,17 Ekaterina Sorkina,18 Marie-Christine Vantyghem,19 Elena Vorona,20 Martin Wabitsch,21 Julia von Schnurbein,21 Camille Vatier,22 Joëlle Roume,23 Yves Reznik,24 Maria Eriksson,3 Wolfram Antonin,25 Corinne Vigouroux,22 and Jan Halbritter1

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Sewerin, S. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Aurnhammer, C. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Hamed, M. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Revêchon, G. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Schönauer, R. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Findeisen, C. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Miehle, K. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Tesařová, Š. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Georgomanolis, T. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Bergmann, C. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Wolff, C. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Kollár, M. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Akinci, B. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Araujo-Vilar, D. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Ceccarini, G. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Csajbók, É. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Gambineri, A. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Heni, M. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Scherer, T. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Štotl, I. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

Find articles by Sorkina, E. in: PubMed | Google Scholar

1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

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1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

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1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

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1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

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1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

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1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

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1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

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1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

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1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

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1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

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1Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany

2Institute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

3Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

4Division of Endocrinology, Lipodystrophy Center Leipzig, University of Leipzig Medical Center, Leipzig, Germany

53rd Department of Internal Medicine and 1st Faculty of Medicine, General University Hospital and Charles University, Prague, Czech Republic

6Cologne Center for Genomics, University of Cologne, Cologne, Germany

7Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

8Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany

9Institute for Clinical and Experimental Medicine, Prague, Czech Republic

10DEPARK, Dokuz Eylul University Health Campus and Izmir Biomedicine and Genome Center, Izmir, Turkey

11Centre for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain

12Obesity and Lipodystrophy Center, Department of Clinical and Experimental M, University Hospital of Pisa, Pisa, Italy

131st Department of Internal Medicine, Endocrinology Department, University of Szeged, Faculty of Medicine, Szent-Györgyi Albert Clinical Center, Szeged, Hungary

14Department of Medical and Surgical Sciences, Bologna University, Bologna, Italy

15Department of Internal Medicine I, Division of Endocrinology and Diabetolog, University of Ulm Medical Center, Ulm, Germany

16Division of Endocrinology and Metabolism, Department of Internal Medicine I, Medical Universtiy of Vienna, Vienna, Austria

17Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia

18Endocrinology Research Centre, Moscow, Russian Federation

19Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital, Lille, France

20Department of Medicine B: Gastroenterology, Hepatology, Endocrinology and C, Hospital of the University of Münster, Münster, Germany

21r for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diab, University of Ulm, Ulm, Germany

22Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, Department o, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France

23Department of Genetics, Poissy-Saint-Germain-en-Laye Medical Center, Poissy, France

24Department of Endocrinology and Diabetes, University of Caen Medical Center Côte de Nacre, and University of Caen Normandy, Caen, France

25nstitute for Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany

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Published July 16, 2026 - More info

JCI Insight. https://doi.org/10.1172/jci.insight.192062.
Copyright © 2026, Sewerin et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Published July 16, 2026 - Version history
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Abstract

BACKGROUND. Primary laminopathies are a heterogeneous group of rare diseases caused by nuclear lamina dysfunction due to pathogenic LMNA variants. However, despite their ubiquitous expression, LMNA variants have rarely been linked to chronic kidney disease (CKD). Here, we systematically investigate clinical implications and functional underpinnings of a distinct LMNA missense variant (lamin A/C p.(Arg349Trp)) that has sporadically been found in patients with a complex phenotype including lipodystrophy, proteinuria, and focal segmental glomerulosclerosis (FSGS).

METHODS. In clinical and functional terms, we compare lamin A/C Arg349Trp with missense changes at Arg482, the most common hotspot residue for type 2 familial partial lipodystrophy (FPLD2). In particular, we assess renal endpoints in corresponding patient cohorts and investigate disease-associated alterations in vitro.

RESULTS. In contrast to FPLD2 patients, individuals with lamin A/C Arg349Trp experience high-grade proteinuria and a rapid decline of glomerular filtration rate with kidney failure at a median age of 43 years. Mechanistically, we demonstrate that Arg349Trp associates with an abrogation of the structural interaction between lamin A/C and nucleoporin 155, nuclear pore complex aggregation, and an alteration of TGF-β1-dependent signaling.

CONCLUSIONS. While patients with Lamin A/C Arg482 missense changes are at very low risk for progressive CKD, patients harboring Arg349Trp show nephrotic range proteinuria and kidney failure in midlife. Hence, high-grade proteinuric kidney disease is genotype-specific and patients with the Arg349Trp substitution require early renoprotective intervention to potentially halt progression and prevent kidney failure.

FUNDING. German Research Foundation, project IDs 502928386, 445703531, and grants HA 9779/2-1, HA 6908/4-1, HA 6908/7-1, HA 6908/8-1, HA 6908/12-1.

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