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    Research 91–120 of 1000+

    1. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Human Genetics · 2010 · 40 citations
    2. MOUSE MODELS FOR THE STUDY OF HUMAN HAIR LOSS Dermatologic Clinics · 1996 · 36 citations
    3. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    4. Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism* The Journal of Clinical Endocrinology and Metabolism · 1997 · 31 citations
    5. Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women Human Reproduction · 2006 · 25 citations
    6. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    7. Alopecia in Epidermolysis Bullosa Dermatologic Clinics · 2009 · 21 citations
    8. Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II Calcified tissue international · 2009 · 18 citations
    9. A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses Bone · 2014 · 12 citations
    10. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    11. Hague (<i>Hag</i>): A New Mouse Hair Mutation With an Unstable Semidominant Allele Genetics · 2002 · 11 citations
    12. A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix 2011 · 3 citations
    13. Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice Journal of cell science · 2023 · 2 citations
    14. An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review Heliyon · 2023 · 1 citations
    15. The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein Journal of Investigative Dermatology · 2007 · 1 citations
    16. Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review Cureus · 2025
    17. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    18. Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review Pediatric Dermatology · 2019
    19. Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene Science · 1998 · 412 citations
    20. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    21. What causes hidradenitis suppurativa ?—15 years after Experimental Dermatology · 2020 · 78 citations
    22. Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses Nature Genetics · 2015 · 73 citations
    23. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    24. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene Genomics · 2004 · 50 citations
    25. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations
    26. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    27. Somatic Mutations in Normal Tissues: New Perspectives on Early Carcinogenesis Annual Review of Cancer Biology · 2023 · 13 citations
    28. Stem Cell Competition for Niche Occupancy: Emerging Themes and Mechanisms Stem Cell Reviews and Reports · 2010 · 13 citations
    29. A mutation in MAP2 is associated with prenatal hair follicle density The FASEB Journal · 2019 · 11 citations
    30. Clonal analysis of stem cells in differentiation and disease Current Opinion in Cell Biology · 2016 · 11 citations