Search
for

    Sort by

    Research 241–270 of 1000+

    1. K <sub>ATP</sub> Channels and Cardiovascular Disease Circulation Research · 2013 · 144 citations
    2. Acne-associated syndromes: models for better understanding of acne pathogenesis Journal of The European Academy of Dermatology and Venereology · 2010 · 99 citations
    3. Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction Journal of Cell Science · 2009 · 87 citations
    4. 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
    5. What causes hidradenitis suppurativa ?—15 years after Experimental Dermatology · 2020 · 78 citations
    6. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    7. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    8. The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle Animal Genetics · 2007 · 51 citations
    9. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    10. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia Archives of Biochemistry and Biophysics · 2006 · 37 citations
    11. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    12. Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome The American Journal of Dermatopathology · 2005 · 31 citations
    13. Diagnostic approach to low‐renin hypertension Clinical Endocrinology · 2018 · 29 citations
    14. 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
    15. Identification of the keratin-associated protein 13-3 (KAP13-3) gene in sheep Open Journal of Genetics · 2011 · 26 citations
    16. Suppression of Wnt/β-catenin signaling by EGF receptor is required for hair follicle development Molecular Biology of the Cell · 2018 · 25 citations
    17. The sheep KAP8-2 gene, a new KAP8 family member that is absent in humans SpringerPlus · 2014 · 25 citations
    18. Alopecia Areata KARGER eBooks · 2008 · 24 citations
    19. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    20. Genetic basis of polycystic ovary syndrome Expert Review of Endocrinology & Metabolism · 2010 · 18 citations
    21. Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene 2012 · 17 citations
    22. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy The Application of Clinical Genetics · 2022 · 15 citations
    23. Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain 2018 · 14 citations
    24. Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene Yonsei Medical Journal · 2018 · 13 citations
    25. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
    26. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    27. The hair shaft: normality, abnormality, and genetics Clinics in Dermatology · 2001 · 11 citations
    28. The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata Medicine · 2019 · 9 citations
    29. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    30. Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil Journal of Dermatology · 2020 · 7 citations