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    Research 31–60 of 1000+

    1. Animal models of human skin disease Experimental Dermatology · 2004 · 4 citations
    2. Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism Journal of Biomedical Science · 2023
    3. Anti-Acne Agents Attenuate FGFR2 Signal Transduction in Acne 2009 · 65 citations
    4. Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations Australasian journal of dermatology (Print) · 2024
    5. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients BMC Medical Genetics · 2020 · 6 citations
    6. Lentiginous melanoma. A clinically malignant entity that histopathologically seems benign. Case study harbouring BRAF V 600R mutation Journal of the European Academy of Dermatology and Venereology · 2015 · 1 citations
    7. Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia Scientific Reports · 2017 · 20 citations
    8. Somatic mutations distinguish melanocyte subpopulations in human skin bioRxiv (Cold Spring Harbor Laboratory) · 2026
    9. PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS) Anticancer Research · 2018 · 21 citations
    10. Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a <i>U2HR</i> mutation American Journal of Medical Genetics - Part A · 2010 · 11 citations
    11. Filaggrin mutations as an archetype for understanding the pathophysiology of atopic dermatitis Journal of The American Academy of Dermatology · 2014 · 3 citations
    12. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    13. Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice Journal of Investigative Dermatology · 2010 · 23 citations
    14. Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I International Journal of Trichology · 2013
    15. Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia Experimental Dermatology · 2005 · 7 citations
    16. Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata Cutis · 2023
    17. Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase PLoS Genetics · 2010 · 73 citations
    18. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    19. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    20. The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis PLoS Genetics · 2012 · 99 citations
    21. Cutaneous gain-of-function mutation of LRIG3 leads to alopecia by upregulation of ERBB, PI3K/AKT, NOTCH1 signaling pathways Scientific Reports · 2026
    22. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    23. 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
    24. Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i> The Journal of Dermatology · 2017 · 5 citations
    25. Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation Cell Cycle · 2006 · 74 citations
    26. Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle Scientific Reports · 2011 · 9 citations
    27. Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation American Journal Of Pathology · 2011 · 54 citations
    28. Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles Journal of Investigative Dermatology · 2002 · 53 citations
    29. 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath 2019
    30. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type Journal of Medical Genetics · 2006 · 60 citations