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    Research 211–240 of 1000+

    1. Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects Journal of Heredity · 1994 · 22 citations
    2. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    3. iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice PLoS ONE · 2014 · 15 citations
    4. Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript Experimental Dermatology · 2010 · 14 citations
    5. A mutation in MAP2 is associated with prenatal hair follicle density The FASEB Journal · 2019 · 11 citations
    6. Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner Behavior Genetics · 2014 · 11 citations
    7. Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix Dermatology · 2003 · 10 citations
    8. <i>TRPS1</i> mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology Journal of dermatology · 2020 · 9 citations
    9. Autosomal recessive congenital ichthyosis due to <i>PNPLA1</i> mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy Veterinary dermatology · 2016 · 9 citations
    10. Pleiotropic effects of the nude mutation. PubMed · 1975 · 9 citations
    11. The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region 2007 · 8 citations
    12. Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia Scientific reports · 2017 · 6 citations
    13. A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice DNA Research · 2004 · 6 citations
    14. Identification of novel mutation in the<i>HR</i>gene responsible for atrichia with papular lesions in a Pakistani family The Journal of Dermatology · 2013 · 5 citations
    15. Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat Research Square (Research Square) · 2021 · 2 citations
    16. [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. PubMed · 2008 · 2 citations
    17. Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review Clinical and Experimental Pediatrics · 2025
    18. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants Institutional Repositories DataBase (IRDB) · 2024
    19. Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay Pesquisa Veterinária Brasileira · 2023
    20. 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation 2022
    21. The Naked (N) Mutation, Chromosome 15 2020
    22. Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis Anais Brasileiros de Dermatologia · 2019
    23. 1391 Immune cells may have a role in hair loss process caused by TRPV3 gain-of-function mutation Journal of Investigative Dermatology · 2018
    24. Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation 2016
    25. Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia Journal of dermatology · 2011
    26. Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation Cell · 1993 · 578 citations
    27. Keratin gene mutations in disorders of human skin and its appendages Archives of Biochemistry and Biophysics · 2010 · 185 citations
    28. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations
    29. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    30. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix Human Genetics · 1997 · 100 citations