Oct 1, 2012 · Loss-of-function mutations in CDH3, which encodes P-cadherin, result in hypotrichosis with juvenile macular dystrophy (HJMD), an autosomal recessive disorder featuring sparse and short hair. Here, we attempted to recapitulate some aspects of HJMD in vitro by transfecting normal, organ-cultured human scalp HFs with lipofectamine and CDH3 ...

Loss-of-function mutations in CDH3, which encodes P-cadherin, result in hypotrichosis with juvenile macular dystrophy (HJMD), an autosomal recessive disorder featuring sparse and short hair.

To mimic the development of hair follicle abnormalities observed in HJMD, Samuelov et al. utilized an organ culture model consisting of scalp hair follicles in which expression of the endogenous P-cadherin gene (CDH3) was knocked down with siRNA oligonucleotides.

Loss-of-function mutations in CDH3, which encodes P-cadherin, result in two allelic autosomal recessive disorders: hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) syndromes. Both syndromes feature sparse hair heralding progressive macular dystrophy.

It is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows and scalp hair, and selective tooth agenesis associated with macular dystrophy and ectrodactyly.

Jan 1, 2014 · The type of hair loss commonly called hypotrichosis is characterized by normal to sparse hair at birth, gradual hair loss during childhood, and sparse hair in adulthood. In many cases of hypotrichosis, hair morphogenesis is not affected (normal hair density at birth).

Jun 1, 2013 · Instead, epidermal pigmentation was unaffected by P-cadherin knockdown in organ-cultured human skin. In hair matrix keratinocytes, P-cadherin silencing reduced plasma membrane β-catenin, whereas glycogen synthase kinase 3 beta (GSK3β) and phospho-β-catenin expression were significantly upregulated.

Hypotrichosis associated with juvenile macular dystrophy is caused by mutations in CDH3, which encodes P-cadherin, a member of the classic cadherin family. P-cadherin regulates human hair growth and cycling via canonical Wnt signaling and transforming growth factor-beta2.

Mar 30, 2025 · CDH3 (Cadherin 3) is a Protein Coding gene. Diseases associated with CDH3 include Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome and Hypotrichosis, Congenital, With Juvenile Macular Dystrophy. Among its related pathways are Cell junction organization and ERK Signaling.

Loss-of-function mutations in CDH3, which encodes P-cadherin, result in hypotrichosis with juvenile macular dystrophy (HJMD), an autosomal recessive disorder featuring sparse and short hair....