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    Research 211–240 of 1000+

    1. Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions Journal of Investigative Dermatology · 2003 · 23 citations
    2. Molecular Genetics of Alopecias Current problems in dermatology · 2015 · 9 citations
    3. Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa 2022 · 5 citations
    4. Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism American Journal of Case Reports · 2020 · 3 citations
    5. Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus 2019 · 3 citations
    6. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    7. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    8. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Human Genetics · 2010 · 40 citations
    9. Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome British Journal of Dermatology · 2021 · 11 citations
    10. Homozygous whole body <i>Cbs</i> knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia ˜The œFASEB journal · 2022 · 7 citations
    11. 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR Journal of Investigative Dermatology · 2016
    12. Defective trophoblast function in mice with a targeted mutation of Ets2 Genes & Development · 1998 · 301 citations
    13. Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (<i>Hr<sup>rh-R</sup></i>) in the Hairless Gene (<i>Hr</i>) Veterinary pathology · 2010 · 10 citations
    14. The Critical Roles of Serum/Glucocorticoid-Regulated Kinase 3 (SGK3) in the Hair Follicle Morphogenesis and Homeostasis American Journal of Pathology · 2006 · 9 citations
    15. Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75 Journal of Investigative Dermatology · 2015 · 6 citations
    16. Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice JID Innovations · 2026
    17. Effects of the bovine slick mutation on heat stress responses and hair growth in mice 2020
    18. Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations International Journal of Molecular Sciences · 2022 · 6 citations
    19. Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep Journal of Advanced Research · 2023 · 2 citations
    20. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    21. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    22. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    23. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation Nature Communications · 2017 · 96 citations
    24. Phospholipase A2 Is Required for PIN-FORMED Protein Trafficking to the Plasma Membrane in the<i>Arabidopsis</i>Root The Plant Cell · 2010 · 84 citations
    25. 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
    26. 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
    27. Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses Nature Genetics · 2015 · 73 citations
    28. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    29. Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation American Journal Of Pathology · 2011 · 54 citations
    30. Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles Journal of Investigative Dermatology · 2002 · 53 citations