ArticleEuropean journal of human genetics : EJHG2003
A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.
Article in European journal of human genetics : EJHG, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 34 citations in OpenAlex.
- A spontaneous deletion within the desmoglein 3 extracellular domain of mice results in hypomorphic protein expression, immunodeficiency, and a wasting disease phenotype.The American journal of pathology · 2015Article
- A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.Scientific reports · 2012Article
- Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.Human genetics · 2010Article
- Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.Human genetics · 2010Article
- Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).Human genetics · 2008Article
- Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.Annals of human genetics · 2007Article
- A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.Human genetics · 2007Article
- A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.Clinical genetics · 2006Article
- Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.Human genetics · 2006Article
- A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis.The Journal of investigative dermatology · 2004Article
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Authors and funding
9 authors at 4 institutions in 4 countries.
Funding
Abstract
Hereditary hypotrichosis is a rare autosomal recessive condition characterized clinically by alopecia. Three consanguineous kindreds with multiple affected individuals were ascertained from different regions of Pakistan. A novel hypotrichosis locus was mapped to a 5.5 cM region on chromosome 18q21.1. A maximum two-point LOD score of 5.25 was obtained at marker D18S36 (theta=0.0). Three genes each for desmoglein and desmocollin proteins are located in this region. The expression in epidermal desmosomes and their connection to the keratin intermediate filaments make these genes excellent candidates for recessive hypotrichosis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.