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    1. 1123 COPPER LOADING (CuL) STUDIES IN BRINDLED (Br) MOUSE HEMIZYGOTES AND HETEROZYGOTES Pediatric research · 1981
    2. L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy Clinica Chimica Acta · 1981 · 8 citations
    3. Site of beige (<i>bg</i>) and leaden (<i>ln</i>) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (<i>W</i><sup><i>sh</i></sup>) homozygotes Genetics Research · 1985 · 7 citations
    4. オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入 1991
    5. Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum Journal of Neuropathology & Experimental Neurology · 1985 · 23 citations
    6. Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant Human Genome Variation · 2026
    7. Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene Journal of The American Academy of Dermatology · 2000 · 9 citations
    8. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    9. Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother American Journal of Medical Genetics Part A · 2026
    10. SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor Journal of the Endocrine Society · 2019
    11. 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
    12. A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome AACE Clinical Case Reports · 2015 · 1 citations
    13. Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation Journal of dermatological science · 2016
    14. Abstract C4: Sp2: A regulator of stem cell differentiation and tumorigenesis Cancer Research · 2009
    15. GABRA2 Alleles Moderate the Subjective Effects of Alcohol, Which are Attenuated by Finasteride Neuropsychopharmacology · 2005 · 134 citations
    16. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    17. Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse Journal of Neuropathology & Experimental Neurology · 1991 · 11 citations
    18. Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11 Mammalian Genome · 2000 · 7 citations
    19. Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene Journal of Dermatological Science · 1994 · 6 citations
    20. The parathyroid hormone-related protein as a regulator of normal tissue functions Current Opinion in Endocrinology & Diabetes · 1994 · 4 citations
    21. Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development. Blood · 2004 · 2 citations
    22. The influence of ESR1 polymorphisms on selected hormonal, metabolic and mineral balance markers in women with hyperandrogenism Scientific Reports · 2022
    23. 921 Generation of a new rodent model of scleroderma Journal of Investigative Dermatology · 2019
    24. A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia 2014
    25. Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague Proceedings of The Japanese Society of Animal Models for Human Diseases · 2002
    26. <i>Hoxc13</i> mutant mice lack external hair Genes & Development · 1998 · 245 citations
    27. 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia The Year book of endocrinology · 2008
    28. Association of AR rs6152G/A gene polymorphism with susceptibility to polycystic ovary syndrome in Chinese women Reproduction, Fertility and Development · 2010 · 15 citations
    29. HuR ablation destabilizes Foxp3 mRNA and impairs regulatory T cell function, contributing to an autoimmune phenotype Frontiers in Immunology · 2025 · 1 citations
    30. An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia Cureus · 2024