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    Research 451–480 of 1000+

    1. Beyond Expectations International review of cell and molecular biology · 2014 · 70 citations
    2. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    3. The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria 2022 · 2 citations
    4. Variation in the caprine keratin-associated protein 15-1 (KAP15-1) gene affects cashmere fibre diameter 2019 · 30 citations
    5. Ageratum Conyzoides L. Extract Inhibits 5α-Reductase Gene Expression and Prostaglandin D2 Release in Human Hair Dermal Papilla Cells and Improves Symptoms of Hair Loss in Otherwise Healthy Males and Females in an Open Label Pilot Study Journal of cosmetology & trichology · 2021
    6. Progressive Hair Loss and Myocardial Degeneration in Rough Coat Mice: Reduced Lysyl Oxidase-Like (LOXL) in the Skin and Heart Journal of Investigative Dermatology · 2004 · 22 citations
    7. Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency Journal of Investigative Dermatology · 2014 · 24 citations
    8. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    9. Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ 2012 · 44 citations
    10. Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature International journal of immunopathology and pharmacology · 2015 · 6 citations
    11. 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum Journal of Investigative Dermatology · 2025
    12. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010 · 97 citations
    13. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    14. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    15. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    16. RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development Orphanet journal of rare diseases · 2022 · 5 citations
    17. FGF5 is a crucial regulator of hair length in humans Proceedings of the National Academy of Sciences of the United States of America · 2014 · 136 citations
    18. Keratins and skin disease 2015 · 69 citations
    19. Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice Immunogenetics · 2008 · 7 citations
    20. Towards Defining the Pathogenesis of the Hairless Phenotype Journal of Investigative Dermatology · 1998 · 86 citations
    21. Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review Frontiers in Medicine · 2025
    22. The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep Agritrop (Cirad) · 2002
    23. Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz<sup>ica</sup>) mice points to <i>fuzzy</i> as a key element of hair cycle control Experimental dermatology · 2005 · 20 citations
    24. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    25. An essential role for <i>Rxrα</i> in the development of Th2 responses European Journal of Immunology · 2005 · 50 citations
    26. Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules Journal of Investigative Dermatology · 2017 · 14 citations
    27. RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS 2017 · 2 citations
    28. Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report Clinical, cosmetic and investigational dermatology · 2024
    29. <i>BUZZ</i>: an essential gene for postinitiation root hair growth and a mediator of root architecture in <i>Brachypodium distachyon</i> New phytologist · 2023
    30. A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome Indian dermatology online journal · 2023