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    Research 241–270 of 806

    1. A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation 2019 · 21 citations
    2. Genetic disorders of keratin: are scarring alopecias a sub-set? Journal of Dermatological Science · 1994 · 14 citations
    3. Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75 Journal of Investigative Dermatology · 2015 · 6 citations
    4. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    5. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    6. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    7. In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis Pharmaceuticals · 2023
    8. Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma 2021
    9. Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan Pakistan Journal of Zoology · 2020
    10. PCSK9: From Nature’s Loss to Patient’s Gain Circulation · 2024
    11. Kin‐cohort analysis of <i>LRRK2</i>‐G2019S penetrance in Parkinson's disease Movement Disorders · 2011 · 47 citations
    12. The nude gene and the skin Experimental Dermatology · 2001 · 41 citations
    13. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    14. Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation Differentiation · 2009 · 35 citations
    15. Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins IntechOpen eBooks · 2021 · 1 citations
    16. Seasonal Variability in Transcript Expression of Type I and Type II Keratins in Wool Follicles of Lustrous Fleece-Producing Magra Sheep Journal of Natural Fibers · 2023 · 1 citations
    17. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    18. K <sub>ATP</sub> Channels and Cardiovascular Disease Circulation Research · 2013 · 144 citations
    19. Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype Developmental Dynamics · 2000 · 75 citations
    20. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    21. Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes 2021 · 11 citations
    22. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    23. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype PLOS genetics · 2019 · 24 citations
    24. Biotinidase deficiency characterized by skin and hair findings Clinics in Dermatology · 2020 · 10 citations
    25. Chrousos syndrome: from molecular pathogenesis to therapeutic management European Journal of Clinical Investigation · 2015 · 47 citations
    26. Beyond Expectations International review of cell and molecular biology · 2014 · 70 citations
    27. The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria 2022 · 2 citations
    28. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    29. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010 · 97 citations
    30. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations