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    Research 31–60 of 823

    1. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    2. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations
    3. Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium AFRICAN JOURNAL OF BIOTECHNOLOGY · 2011 · 2 citations
    4. MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse 2017
    5. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    6. A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005 · 33 citations
    7. Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report European Journal of Dermatology · 2018
    8. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    9. <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis Animal Genetics · 2026
    10. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    11. Integrated Analysis of Methylome and Transcriptome Changes Reveals the Underlying Regulatory Signatures Driving Curly Wool Transformation in Chinese Zhongwei Goats Frontiers in Genetics · 2020 · 39 citations
    12. Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma Frontiers in Oncology · 2024
    13. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    14. Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica 2010 · 16 citations
    15. Acute sensitivity of the oral mucosa to oncogenic <i>K‐ras</i> Journal of pathology · 2011 · 12 citations
    16. Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome British Journal of Dermatology · 2021 · 11 citations
    17. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    18. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    19. Adipocytes in Skin Health and Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 77 citations
    20. Structural mechanism of TRPV3 channel inhibition by the plant‐derived coumarin osthole EMBO reports · 2021 · 28 citations
    21. Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions Journal of Investigative Dermatology · 2003 · 23 citations
    22. Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep Journal of Advanced Research · 2023 · 2 citations
    23. Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose BMC Genomics · 2022 · 1 citations
    24. Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation Frontiers in pediatrics · 2022
    25. Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene Science · 1998 · 412 citations
    26. A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome American journal of medical genetics. Part A · 2023
    27. Gene detection in a family with monilethrix and treatment with 5% topical minoxidil Skin research and technology · 2022 · 2 citations
    28. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    29. Molecular pathology of skin adnexal tumours Histopathology · 2021 · 16 citations
    30. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations