[HTML][HTML] A missense mutation within the helix termination motif of KRT25 causes autosomal dominant woolly hair/hypotrichosis
X Yu, F Chen, C Ni, G Zhang, L Zheng, J Zhang… - Journal of Investigative …, 2018 - Elsevier
X Yu, F Chen, C Ni, G Zhang, L Zheng, J Zhang, C Li, A Sandilands, Z Yao, M Li
Journal of Investigative Dermatology, 2018•ElsevierWoolly hair (WH)/hypotrichosis is an unusual condition characterized by sparse and tightly
curled hair (Ramot and Zlotogorski, 2015a). WH may be isolated or be accompanied by
additional complications including palmoplantar keratoderma, hypotrichosis, epidermal
naevus, and cardiomyopathy (Ramot et al., 2014, Veraitch et al., 2016). Isolated WH can
manifest with autosomal dominant (AD) or autosomal recessive trait of inheritance
(Shimomura, 2016).Keratins are scaffolding proteins that form a network of intermediate …
curled hair (Ramot and Zlotogorski, 2015a). WH may be isolated or be accompanied by
additional complications including palmoplantar keratoderma, hypotrichosis, epidermal
naevus, and cardiomyopathy (Ramot et al., 2014, Veraitch et al., 2016). Isolated WH can
manifest with autosomal dominant (AD) or autosomal recessive trait of inheritance
(Shimomura, 2016).Keratins are scaffolding proteins that form a network of intermediate …
Woolly hair (WH)/hypotrichosis is an unusual condition characterized by sparse and tightly curled hair (Ramot and Zlotogorski, 2015a). WH may be isolated or be accompanied by additional complications including palmoplantar keratoderma, hypotrichosis, epidermal naevus, and cardiomyopathy (Ramot et al., 2014, Veraitch et al., 2016). Isolated WH can manifest with autosomal dominant (AD) or autosomal recessive trait of inheritance (Shimomura, 2016).
Keratins are scaffolding proteins that form a network of intermediate filaments (IFs). Heterodimerization between type I and II keratin to form keratin IFs is the basic building block for hair structure (Ramot and Zlotogorski, 2015b). The phenotypic heterogeneity caused by different keratin genes also depends on their location within different hair structures, including the cortex of the hair shaft, the cuticle, and the inner root sheath (Naeem et al., 2006).
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