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    Research 181–210 of 1000+

    1. Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene Journal of Veterinary Medical Science · 2010 · 45 citations
    2. Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching (FRAP) Is an Integrated Measure of Receptor Function Molecular Medicine · 2004 · 31 citations
    3. Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene Clinical and Experimental Dermatology · 2006 · 19 citations
    4. Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review The Journal of Dermatology · 2018 · 9 citations
    5. Detection of a Novel Missense Mutations in Atrichia with Papular Lesions Annals of Dermatology · 2011 · 4 citations
    6. 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
    7. 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
    8. Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia Experimental Dermatology · 2005 · 7 citations
    9. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    10. Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot Human Genome Variation · 2026
    11. The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis PLoS Genetics · 2012 · 99 citations
    12. Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase PLoS Genetics · 2010 · 73 citations
    13. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    14. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    15. 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
    16. Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum Neurodegenerative Diseases · 2018 · 7 citations
    17. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    18. Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation Dermatologica Sinica · 2010 · 3 citations
    19. 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
    20. Growth of the Mouse Coat VII. Hair Cycles and Sebaceous Glands in Homozygous and Heterozygous Naked Mice Australian Journal of Biological Sciences · 1960 · 2 citations
    21. Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation Cell · 1993 · 578 citations
    22. Pleiotropic effects of the nude mutation. PubMed · 1975 · 9 citations
    23. 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
    24. Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes Journal of child neurology · 2012 · 15 citations
    25. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    26. A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population Neurological Sciences · 2015 · 21 citations
    27. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations
    28. The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) Molecular Genetics and Metabolism Reports · 2014 · 9 citations
    29. Transgenic mice display hair loss and regrowth overexpressing mutant <i>Hr</i> gene 2017
    30. MOUSE MODELS FOR THE STUDY OF HUMAN HAIR LOSS Dermatologic Clinics · 1996 · 36 citations