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    Research 181–210 of 1000+

    1. Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix 2019
    2. 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR Journal of Investigative Dermatology · 2016
    3. Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features International Journal of Trichology · 2025
    4. The Rho GTPase exchange factor Vav2 promotes extensive age-dependent rewiring of the hair follicle stem cell transcriptome Frontiers in cell and developmental biology · 2023
    5. [Translated article] Keys to the Diagnosis of Hair Shaft Disorders: Part II 2022
    6. Hair shaft structures in EDAR induced ectodermal dysplasia BMC Medical Genetics · 2015 · 5 citations
    7. Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament Genomics · 2007 · 27 citations
    8. Signaling Involved in Hair Follicle Morphogenesis and Development International Journal of Molecular Sciences · 2014 · 223 citations
    9. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    10. Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats Journal of Heredity · 2007 · 75 citations
    11. Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation Differentiation · 2009 · 35 citations
    12. <i>De novo</i> mutations in monilethrix Experimental Dermatology · 2003 · 26 citations
    13. Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene Journal of the European Academy of Dermatology and Venereology · 2017 · 6 citations
    14. Molecular Mechanisms Regulating Hair Follicle Development 2002 · 854 citations
    15. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    16. K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) Represent the Type I Inner Root Sheath Keratins of the Human Hair Follicle Journal of Investigative Dermatology · 2006 · 93 citations
    17. Unique amino acid signatures that are evolutionarily conserved distinguish simple-type, epidermal and hair keratins Journal of Cell Science · 2011 · 76 citations
    18. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis 2006 · 74 citations
    19. A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification 2002 · 66 citations
    20. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    21. Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D Journal of Bone and Mineral Research · 2002 · 47 citations
    22. A keratin 15 containing stem cell population from the hair follicle contributes to squamous papilloma development in the mouse Molecular Carcinogenesis · 2012 · 44 citations
    23. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    24. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    25. A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome Clinical and Experimental Dermatology · 2010 · 34 citations
    26. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    27. Gsdma3 is required for hair follicle differentiation in mice Biochemical and biophysical research communications · 2010 · 30 citations
    28. Phenotypic variability associated with<i>WNT10A</i>nonsense mutations 2010 · 28 citations
    29. Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family 2007 · 25 citations
    30. 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