Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
October 2005
in “
Archives of Dermatological Research
”
Research cited in this study
9 / 9 resultsresearch Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
research Alopecia Universalis Associated with a Mutation in the Human hairless Gene
The study investigated a kindred with a rare, recessively inherited type of alopecia universalis to identify the genetic basis of this condition. Through homozygosity mapping, researchers established linkage in a 6-centimorgan interval on chromosome 8p12, with a significant logarithm of the odds score of 6.19. They identified a missense mutation in the human homolog of the murine hairless gene within this interval. The human hairless gene encodes a putative single zinc finger transcription factor protein, which is expressed in the brain and skin, suggesting its role in the development of alopecia universalis.