[HTML][HTML] Congenital anonychia and uncombable hair syndrome: coinheritance of homozygous mutations in RSPO4 and PADI3
CK Hsu, MT Romano, A Nanda… - Journal of Investigative …, 2017 - Elsevier
Ectodermal dysplasia (ED) comprises a large heterogeneous group of inherited disorders
defined by developmental defects in two or more tissues derived from embryonic ectoderm …
defined by developmental defects in two or more tissues derived from embryonic ectoderm …
The inconsistent regulation of HOXC13 on different keratins and the regulation mechanism on HOXC13 in cashmere goat (Capra hircus)
S Wang, Z Luo, Y Zhang, D Yuan, W Ge, X Wang - BMC genomics, 2018 - Springer
Background During hair growth, cortical cells emerging from the proliferative follicle bulb
rapidly undergo a differentiation program and synthesize large amounts of hair keratin …
rapidly undergo a differentiation program and synthesize large amounts of hair keratin …
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability
V Clowes, X Ma, H Maude, C Dennis, Q Gao… - Human …, 2024 - Wiley Online Library
Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder characterized by
reduced or absent hair and dystrophic nails. PHNED is caused by pathogenic variants in …
reduced or absent hair and dystrophic nails. PHNED is caused by pathogenic variants in …
[HTML][HTML] Autosomal recessive hypotrichosis with woolly hair caused by a mutation in the keratin 25 gene expressed in hair follicles
Hypotrichosis is an abnormal condition characterized by decreased hair density and various
defects in hair structure and growth patterns. In particular, in woolly hair, hypotrichosis is …
defects in hair structure and growth patterns. In particular, in woolly hair, hypotrichosis is …
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
Background Woolly hair (WH) is a hair abnormality that is primarily characterised by tightly
curled hair with abnormal growth. Methods In two unrelated consanguineous Pakistani …
curled hair with abnormal growth. Methods In two unrelated consanguineous Pakistani …
Comparative genomics analyses of alpha-keratins reveal insights into evolutionary adaptation of marine mammals
X Sun, Z Zhang, Y Sun, J Li, S Xu, G Yang - Frontiers in zoology, 2017 - Springer
Background Diversity of hair in marine mammals was suggested as an evolutionary
innovation to adapt aquatic environment, yet its genetic basis remained poorly explored. We …
innovation to adapt aquatic environment, yet its genetic basis remained poorly explored. We …
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family
Background Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of
hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance …
hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance …
No difference in the proteome of racially and geometrically classified scalp hair sample from a South African cohort: Preliminary findings
Differences in the physiological proteome of men of different racial origin is poorly
researched, albeit hair is mostly composed of keratins and keratin-associated proteins …
researched, albeit hair is mostly composed of keratins and keratin-associated proteins …
[HTML][HTML] Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder
Abstract Purpose Nail-Patella syndrome is a dominantly inherited genetic disorder
characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities …
characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities …
Molecular modeling of pathogenic mutations in the keratin 1B domain
Keratin intermediate filaments constitute the primary cytoskeletal component of epithelial
cells. Numerous human disease phenotypes related to keratin mutation remain …
cells. Numerous human disease phenotypes related to keratin mutation remain …