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    Research 61–90 of 186

    1. A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair Journal of Medical Genetics · 2015 · 29 citations
    2. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    3. Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector Human gene therapy · 2019 · 14 citations
    4. Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia American Journal of Human Genetics · 2001 · 14 citations
    5. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin Genetics in medicine · 2018 · 10 citations
    6. Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak Frontiers in Genetics · 2022 · 7 citations
    7. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    8. Homozygous K5Cre transgenic mice have wavy hair and accelerated malignant progression in a murine model of skin carcinogenesis Molecular Carcinogenesis · 2006 · 7 citations
    9. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    10. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    11. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1 Endocrinology, diabetes & metabolism case reports · 2020 · 2 citations
    12. Genome-Wide Association Study of Fiber Diameter in Alpacas Animals · 2023 · 1 citations
    13. Reply Journal of Investigative Dermatology · 2000 · 1 citations
    14. APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up Journal of Human Immunity · 2025
    15. BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil British Journal of Dermatology · 2025
    16. Genome-Wide Associations with Body and Fleece Weight in United States Sheep Genes · 2025
    17. Low Heterozygosity and Historical Bottleneck Effect Depicted From the Genome Assembly of the Indus River Dolphin (<i>Platanista minor</i>) Ecology and Evolution · 2025
    18. Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1 American journal of medical genetics. Part A · 2022
    19. A Rare Case of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown. 2022
    20. Defective trophoblast function in mice with a targeted mutation of Ets2 Genes & Development · 1998 · 301 citations
    21. A protein kinase target of a PDK1 signalling pathway is involved in root hair growth in Arabidopsis The EMBO Journal · 2004 · 280 citations
    22. Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans American journal of human genetics · 2009 · 234 citations
    23. A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy Molecular cell · 1998 · 188 citations
    24. Patched1 Functions as a Gatekeeper by Promoting Cell Cycle Progression Cancer Research · 2006 · 176 citations
    25. The role of fibroblast growth factor receptor 2b in skin homeostasis and cancer development The EMBO Journal · 2007 · 125 citations
    26. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    27. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    28. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation Nature Communications · 2017 · 96 citations
    29. Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction Journal of Cell Science · 2009 · 87 citations
    30. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998 · 83 citations