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    Research 181–210 of 1000+

    1. Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2010 · 36 citations
    2. Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene 2015 · 22 citations
    3. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy 2022 · 1 citations
    4. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    5. Defective trophoblast function in mice with a targeted mutation of Ets2 Genes & Development · 1998 · 301 citations
    6. Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide Nature biotechnology · 2000 · 130 citations
    7. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    8. Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation American Journal Of Pathology · 2002 · 57 citations
    9. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor Molecular Genetics and Metabolism · 2009 · 50 citations
    10. Root hair growth from the pH point of view Frontiers in plant science · 2022 · 8 citations
    11. Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak Frontiers in Genetics · 2022 · 7 citations
    12. Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma Frontiers in Oncology · 2024
    13. An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess Endocrinology · 2013 · 27 citations
    14. The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71 Mammalian genome · 2010 · 75 citations
    15. Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K<sub>ATP</sub>Channel Mutations in Intact Cells 2023 · 1 citations
    16. 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
    17. The Success of Thread-embedding Therapy in Generating Hair Re-growth in Mice Points to Its Possibly Having a Similar Effect in Humans Journal of Pharmacopuncture · 2015 · 20 citations
    18. Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year JCRPE · 2022 · 1 citations
    19. Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene Mammalian Genome · 2022
    20. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    21. Clinical Impact of Molecular Diagnostics in Endocrinology Hormone Research in Paediatrics · 2002 · 2 citations
    22. Reply Journal of Investigative Dermatology · 2000 · 1 citations
    23. Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load Molecular genetics and metabolism · 2006 · 35 citations
    24. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex Nature · 2010 · 199 citations
    25. Type XVII collagen coordinates proliferation in the interfollicular epidermis eLife · 2017 · 124 citations
    26. K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) Represent the Type I Inner Root Sheath Keratins of the Human Hair Follicle Journal of Investigative Dermatology · 2006 · 93 citations
    27. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    28. 738 Cryo-EM and molecular dynamics of TRPV3 channel in activated state reveal structural features implicated in severe itch and hyperkeratosis 2023
    29. Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma 2021
    30. What's new in the pathogeneses and triggering factors of bullous pemphigoid The Journal of Dermatology · 2022 · 46 citations