ArticleAmerican journal of human genetics2009
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 90 citations in OpenAlex.
- Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis.The Australasian journal of dermatology · 2025Review
- Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia.Archives of dermatological research · 2024Article
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles.Frontiers in genetics · 2022Article
- Mechanisms Causing Acantholysis in Pemphigus-Lessons from Human Skin.Frontiers in immunology · 2022Review
- Positive selection and gene duplications in tumour suppressor genes reveal clues about how cetaceans resist cancer.Proceedings. Biological sciences · 2021Article
- Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis.Clinical epigenetics · 2020Article
- Predicting cell-to-cell communication networks using NATMI.Nature communications · 2020Article
- Deciphering the Wisent Demographic and Adaptive Histories from Individual Whole-Genome Sequences.Molecular biology and evolution · 2016Article
- Cadherins in tissue architecture and disease.Journal of molecular medicine (Berlin, Germany) · 2015Article
- Cell adhesion in epidermal development and barrier formation.Current topics in developmental biology · 2015Review
- Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).Iranian journal of basic medical sciences · 2014Article
- [Genetic hair diseases. An update].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2013Review
- Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.Human genetics · 2011Article
- Autoimmunity to desmocollin 3 in pemphigus vulgaris.The American journal of pathology · 2010Article
- 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
- No evidence of skin blisters with human desmocollin-3 gene mutation.American journal of human genetics · 2010Article
- Mouse models for blistering skin disorders.Dermatology research and practice · 2010Article
- Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.Dermatology (Basel, Switzerland) · 2010Article
- Desmosomes at a glance.Journal of cell science · 2009Article
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7 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Desmosomes are the major players in epidermis and cardiac muscles and contribute to intercellular binding and maintenance of tissue integrity. Two important constituents of desmosomes are transmembrane cadherins named desmogleins and desmocollins. The critical role of these desmosomal proteins in epithelial integrity has been illustrated by their disruption in mouse models and human diseases. In the present study, we have investigated a large family from Afghanistan in which four individuals are affected with hereditary hypotrichosis and the appearance of recurrent skin vesicle formation. All four affected individuals showed sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid were observed on the affected individuals' scalps and on most of the skin covering their bodies. A scalp-skin biopsy of an affected individual showed mild hair-follicle plugging. Candidate-gene-based homozygosity linkage mapping assigned the disease locus to 8.30 cM (8.51 Mbp) on chromosome 18q12.1. A maximum multipoint LOD score of 3.30 (theta = 0.00) was obtained at marker D18S877. Sequence analysis of four desmoglein and three desmocollin genes, contained within the linkage interval, revealed a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in exon-14 of the desmocollin-3 (DSC3) gene.
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