Clinical Research and Public HealthIn-Press PreviewGeneticsNephrology
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10.1172/jci.insight.192062
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
Find articles by Vantyghem, 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 Vorona, 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
Find articles by Wabitsch, 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 von Schnurbein, J. 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
Find articles by Roume, J. 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 Reznik, Y. 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 Eriksson, 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
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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
Find articles by Vigouroux, 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 Halbritter, J. in: PubMed | Google Scholar
Published July 16, 2026 - More info
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.