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    Research 241–270 of 1000+

    1. Hair Today BioScience · 2000
    2. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    3. Hypotrichosis and Hair Loss on the Occipital Scalp Cutis · 2023
    4. Inherited Disorders of the Hair Elsevier eBooks · 2014
    5. Research on Keratins Reveals Unexpected Link Between Hair Disorders and Dental Decay 2014
    6. Discussion: Themes in the Molecular Structure of Hair Annals of the New York Academy of Sciences · 1991
    7. Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes 2021 · 11 citations
    8. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    9. 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
    10. Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa Journal of Clinical Investigation · 2017 · 87 citations
    11. Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease Journal of Cell Science · 2008 · 85 citations
    12. Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype Developmental Dynamics · 2000 · 75 citations
    13. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    14. Cutaneous Ultrastructural Features of the Flaky Skin (<i>fsn</i>) Mouse Mutation The Journal of Dermatology · 1995 · 28 citations
    15. Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. PubMed · 1997 · 27 citations
    16. Novel and recurrent mutations in the <i>AIRE</i> gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients Clinical genetics · 2009 · 26 citations
    17. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene British Journal of Dermatology · 2011 · 26 citations
    18. Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene 2015 · 22 citations
    19. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene Journal of Pediatric Endocrinology and Metabolism · 2014 · 10 citations
    20. Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix Dermatology · 2003 · 10 citations
    21. A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA The Journal of Clinical Endocrinology & Metabolism · 2022 · 4 citations
    22. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
    23. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy 2022 · 1 citations
    24. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    25. Cutaneous gain-of-function mutation of LRIG3 leads to alopecia by upregulation of ERBB, PI3K/AKT, NOTCH1 signaling pathways Scientific Reports · 2026
    26. Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report Journal of Dermatological Treatment · 2024
    27. Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation Case reports in dermatological medicine · 2023
    28. 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly 2019
    29. 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1 2019
    30. The role of mutations on gene AR, in androgenetic alopecia syndrome International journal of molecular biology · 2020