ArticleJournal of medical genetics2015
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.
Article in Journal of medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 29 citations in OpenAlex.
- Genetic Polymorphism RevealsAnimals : an open access journal from MDPI · 2025Article
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.Frontiers in medicine · 2025Review
- Complete defect in PA-PLAFrontiers in genetics · 2025Article
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient.Frontiers in medicine · 2024Article
- Identification of the Key Genes Associated with Different Hair Types in the Inner Mongolia Cashmere Goat.Animals : an open access journal from MDPI · 2022Article
- TMT-Based Quantitative Proteomic Analysis Reveals the Effect of Bone Marrow Derived Mesenchymal Stem Cell on Hair Follicle Regeneration.Frontiers in pharmacology · 2021Article
- Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza.Scientific reports · 2020Article
- Transcriptome Analysis of Improved Wool Production in Skin-Specific Transgenic Sheep Overexpressing Ovine β-Catenin.International journal of molecular sciences · 2019Article
- An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.Scientific reports · 2018Article
- A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse.Genetics, selection, evolution : GSE · 2017Article
- A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.Journal of the European Academy of Dermatology and Venereology : JEADV · 2016Article
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundWoolly hair (WH) is a hair abnormality that is primarily characterised by tightly curled hair with abnormal growth.
methodsIn two unrelated consanguineous Pakistani families with non-syndromic autosomal recessive (AR) WH, homozygosity mapping and linkage analysis identified a locus within 17q21.1-q22, which contains the type I keratin gene cluster. A DNA sample from an affected individual from each family underwent exome sequencing.
resultsA homozygous missense variant c.950T>C (p.(Leu317Pro)) within KRT25 segregated with ARWH in both families, and has a combined maximum two-point LOD score of 7.9 at ϴ=0. The KRT25 variant is predicted to result in disruption of the second α-helical rod domain and the entire protein structure, thus possibly interfering with heterodimerisation of K25 with type II keratins within the inner root sheath (IRS) of the hair follicle and the medulla of the hair shaft.
conclusionsOur findings implicate a novel gene involved in human hair abnormality, and are consistent with the curled, fragile hair found in mice with Krt25 mutations, and further support the role of IRS-specific type I keratins in hair follicle development and maintenance of hair texture.
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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.