Search
for

    Sort by

    Research 61–90 of 780

    1. Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease Journal of Cell Science · 2008 · 85 citations
    2. Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses Nature Genetics · 2015 · 73 citations
    3. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    4. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report BMC dermatology · 2018 · 18 citations
    5. The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) Molecular Genetics and Metabolism Reports · 2014 · 9 citations
    6. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    7. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    8. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
    9. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018 · 14 citations
    10. Generalised Glucocorticoid Resistance touchREVIEWS in Endocrinology · 2008 · 1 citations
    11. Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations Cells · 2023
    12. Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene Journal of Veterinary Internal Medicine · 2009 · 30 citations
    13. Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome The American Journal of Dermatopathology · 2005 · 31 citations
    14. Chrousos syndrome: from molecular pathogenesis to therapeutic management European Journal of Clinical Investigation · 2015 · 47 citations
    15. Aromatase deficiency in a male patient - Case report and review of the literature. Bone · 2016 · 36 citations
    16. The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria 2022 · 2 citations
    17. Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization Structure · 2017 · 24 citations
    18. Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma 2021
    19. Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease PloS one · 2019 · 5 citations
    20. Intratumoral <i>De Novo</i> Steroid Synthesis Activates Androgen Receptor in Castration-Resistant Prostate Cancer and Is Upregulated by Treatment with CYP17A1 Inhibitors Cancer research · 2011 · 402 citations
    21. Biotin and biotinidase deficiency Expert Review of Endocrinology & Metabolism · 2008 · 166 citations
    22. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    23. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full. Journal of Investigative Dermatology · 2002 · 69 citations
    24. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 2013 · 46 citations
    25. The nude gene and the skin Experimental Dermatology · 2001 · 41 citations
    26. Identification of Differentially Expressed Genes During a Wool Follicle Growth Cycle Induced by Prolactin Journal of Investigative Dermatology · 1999 · 26 citations
    27. Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer Cells · 2020 · 22 citations
    28. Genome-wide detection of RNA editing events during the hair follicles cycle of Tianzhu white yak BMC genomics · 2022
    29. Comparative Skin Transcriptomics Reveals Key Regulators of Cashmere Fiber Production in Inner Mongolian Goats Animals · 2026
    30. Expression of Signaling Components in Embryonic Eyelid Epithelium PloS one · 2014 · 5 citations