Search
for

    Sort by

    Research 121–150 of 1000+

    1. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    2. Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum Neurodegenerative Diseases · 2018 · 7 citations
    3. A Case Report of Werner’s Syndrome With a Novel Mutation From India Cureus · 2020 · 4 citations
    4. Cutaneous gain-of-function mutation of LRIG3 leads to alopecia by upregulation of ERBB, PI3K/AKT, NOTCH1 signaling pathways Scientific Reports · 2026
    5. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    6. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    7. A Case of Familial Male-limited Precocious Puberty with a Novel Mutation JCRPE · 2020 · 6 citations
    8. Recent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor BMC Endocrine Disorders · 2014 · 62 citations
    9. Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation Dermatologica Sinica · 2010 · 3 citations
    10. Role of Zinc in Mucosal Health and Disease: A Review of Physiological, Biochemical, and Molecular Processes Cureus · 2020 · 46 citations
    11. Promotion of anagen, increased hair density and reduction of hair fall in a clinical setting following identification of FGF5-inhibiting compounds via a novel 2-stage process Clinical, Cosmetic and Investigational Dermatology · 2017 · 27 citations
    12. 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly 2019
    13. To be hairless or wise? Nature Reviews Molecular Cell Biology · 2005
    14. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998 · 83 citations
    15. Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation Cell Cycle · 2006 · 74 citations
    16. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    17. Biochemistry of epidermal stem cells Biochimica et Biophysica Acta (BBA) - General Subjects · 2012 · 26 citations
    18. Stem Cell Competition for Niche Occupancy: Emerging Themes and Mechanisms Stem Cell Reviews and Reports · 2010 · 13 citations
    19. Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish International Journal of Molecular Sciences · 2025 · 1 citations
    20. Mutations in Homocysteine Metabolism Genes Increase Keratin <i>N</i>-Homocysteinylation and Damage in Mice International journal of genomics · 2018 · 5 citations
    21. Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome British Journal of Dermatology · 2011 · 6 citations
    22. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    23. Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa Journal of Clinical Investigation · 2017 · 87 citations
    24. Molecular basis of hypohidrotic ectodermal dysplasia: an update Journal of Applied Genetics · 2015 · 85 citations
    25. What causes hidradenitis suppurativa ?—15 years after Experimental Dermatology · 2020 · 78 citations
    26. Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome Journal of Investigative Dermatology · 2017 · 62 citations
    27. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    28. Madarosis Survey of Ophthalmology · 2006 · 33 citations
    29. What′s new in cicatricial alopecia? Indian Journal of Dermatology, Venereology and Leprology · 2013 · 16 citations
    30. Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype Journal of Investigative Dermatology · 2007 · 11 citations