ArticleHuman genetics2011
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 40 citations in OpenAlex.
- Screening of Protein Related to Wool Development and Fineness in Gansu Alpine Fine-Wool Sheep.Animals : an open access journal from MDPI · 2025Article
- Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis.The Australasian journal of dermatology · 2025Review
- Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib.Frontiers in medicine · 2025Article
- Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia.Archives of dermatological research · 2024Article
- Article
- Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep.Journal of advanced research · 2024Article
- The history of Coast Salish "woolly dogs" revealed by ancient genomics and Indigenous Knowledge.Science (New York, N.Y.) · 2023Article
- Fibril structures of TFG protein mutants validate the identification of TFG as a disease-related amyloid protein by the IMPAcT method.PNAS nexus · 2023Article
- AGenes · 2021Article
- A Nonsense Variant in Hephaestin Like 1 (Genes · 2021Article
- Analogs of human genetic skin disease in domesticated animals.International journal of women's dermatology · 2017Review
- A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.Journal of medical genetics · 2015Article
- Article
- In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.PloS one · 2014Article
- A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats.Scientific reports · 2013Article
- To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed.PloS one · 2013Article
- The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis.PLoS genetics · 2012Article
- To grow or not to grow: hair morphogenesis and human genetic hair disorders.Seminars in cell & developmental biologyReview
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant woolly hair (ADWH) is an inherited condition of tightly curled and twisted scalp hair. Recently, a mutation in human keratin-74 (KRT74) gene has been shown to cause this form of hereditary hair disorder. In the present study, we have described two families (A and B) having multiple individuals affected with autosomal dominant form of hair loss disorders. In family A, 10 individuals showed ADWH phenotype while in the family B, 14 individuals showed hypotrichosis of the scalp. Genotyping using polymorphic microsatellite markers showed linkage of both the families to type II keratin gene cluster on the chromosome 12q12-14.1. Mutation analysis of the KRT74 gene identified two novel mutations in the affected individuals of the families. The sequence analysis revealed a splice acceptor site mutation (c.IVS8-1G>A) in family A and a missense variant (c.1444G>A, p.Asp482Asn) in family B. Mutations identified in the present study extend the body of evidence implicating the KRT74 gene in the pathogenesis of autosomal dominant hair loss disorders.
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