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    Research 901–930 of 1000+

    1. Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene Journal of Veterinary Medical Science · 2010 · 45 citations
    2. Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata Journal of Investigative Dermatology · 2005 · 44 citations
    3. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    4. Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis Annals of Neurology · 2001 · 43 citations
    5. Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features American Journal of Medical Genetics Part A · 2018 · 39 citations
    6. Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies Familial cancer · 2012 · 39 citations
    7. The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region American Journal of Medical Genetics · 1997 · 39 citations
    8. A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia Journal of Investigative Dermatology · 1999 · 37 citations
    9. Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2010 · 36 citations
    10. A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family British Journal of Dermatology · 2000 · 36 citations
    11. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3 Genomics · 2004 · 34 citations
    12. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. UNC Libraries · 2020 · 32 citations
    13. A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue Journal of Investigative Dermatology · 2004 · 31 citations
    14. Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5 Genomics · 2003 · 29 citations
    15. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 29 citations
    16. Gain‐of‐function variants in the <i>ODC1</i> gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities American Journal of Medical Genetics Part A · 2018 · 28 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. Novel and recurrent mutations in the <i>AIRE</i> gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients Clinical genetics · 2009 · 26 citations
    19. Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice DNA and Cell Biology · 1998 · 26 citations
    20. Human gene correlation analysis (HGCA): A tool for the identification of transcriptionally co-expressed genes BMC Research Notes · 2012 · 24 citations
    21. Evidence of increased DNA methylation of the androgen receptor gene in occipital hair follicles from men with androgenetic alopecia British Journal of Dermatology · 2011 · 24 citations
    22. Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets Arquivos Brasileiros de Endocrinologia & Metabologia · 2008 · 24 citations
    23. Evaluation of androgen receptor gene as a candidate gene in female androgenetic alopecia International Journal of Dermatology · 2009 · 23 citations
    24. Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions Journal of Investigative Dermatology · 2003 · 23 citations
    25. Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene 2015 · 22 citations
    26. Signaling and Gene Expression for Water-Tolerant Legume Nodulation Critical Reviews in Plant Sciences · 2006 · 22 citations
    27. A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms Molecular Biology Reports · 1995 · 21 citations
    28. The structure of hair and follicles of mice carrying the naked (<i>N</i>) gene Genetics Research · 1982 · 21 citations
    29. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    30. Atrichia with papular lesions resulting from mutations in the rhesus macaque (<i>Macaca mulatta</i>) <i>hairless</i> gene Laboratory Animals · 2002 · 20 citations