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    Research 61–90 of 1000+

    1. A Case Report of Werner’s Syndrome With a Novel Mutation From India Cureus · 2020 · 4 citations
    2. Matrix Stiffness-driven FAK Splicing Tunes Cell Mechanosensing bioRxiv (Cold Spring Harbor Laboratory) · 2026
    3. Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits International journal of molecular sciences · 2024
    4. A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions IP Indian journal of clinical and experimental dermatology · 2022
    5. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    6. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    7. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    8. Structure of human type II 5 alpha-reductase gene. Endocrinology · 1992 · 124 citations
    9. Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene 2002 · 94 citations
    10. Structure of human type II 5 alpha-reductase gene Endocrinology · 1992 · 76 citations
    11. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    12. Prostaglandin D2 Inhibits Wound-Induced Hair Follicle Neogenesis through the Receptor, Gpr44 Journal of Investigative Dermatology · 2012 · 68 citations
    13. Hair follicle differentiation: expression, structure and evolutionary conservation of the hair type II keratin intermediate filament gene family Development · 1992 · 65 citations
    14. 5 alpha-reductase-2 gene mutations in the Dominican Republic. The Journal of Clinical Endocrinology & Metabolism · 1996 · 53 citations
    15. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    16. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    17. Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity Cell reports · 2018 · 25 citations
    18. Isolation and Characterization of a Novel Hair Follicle–Specific Gene, Hacl-1 Journal of Investigative Dermatology · 1994 · 25 citations
    19. A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis Mammalian genome · 2009 · 21 citations
    20. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    21. Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene Clinical and Experimental Dermatology · 2006 · 19 citations
    22. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report BMC dermatology · 2018 · 18 citations
    23. A second <i>KRT</i>71 allele in curly coated dogs Animal Genetics · 2018 · 13 citations
    24. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    25. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    26. Keratin 71 Mutations: From Water Dogs to Woolly Hair 2012 · 11 citations
    27. Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria. PubMed · 2002 · 9 citations
    28. Increased androgen receptor messenger RNA in frontal-parietal hair follicles of women with androgenetic alopecia Genetics and Molecular Research · 2013 · 6 citations
    29. Genome-based analysis of the genetic pattern of black sheep in Qira sheep BMC Genomics · 2025 · 4 citations
    30. Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes 2017 · 4 citations