Search
for

    Sort by

    Research 181–210 of 1000+

    1. Deletions in the <i>KAP6-1</i> gene are associated with fiber traits in cashmere-producing goats Animal biotechnology · 2021 · 1 citations
    2. Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia. PubMed · 2025
    3. <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia American Journal of Medical Genetics Part A · 2024
    4. Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: No association with female pattern hair loss identified Experimental Dermatology · 2012 · 18 citations
    5. HR Gene Variants Identified in Mexican Patients with Alopecia Areata Current Issues in Molecular Biology · 2023 · 6 citations
    6. Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata Journal of Investigative Dermatology · 2005 · 44 citations
    7. Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome The Application of Clinical Genetics · 2022 · 2 citations
    8. Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants Frontiers in Genetics · 2023 · 1 citations
    9. Spatiotemporal Expression and Haplotypes Identification of KRT84 Gene and Their Association with Wool Traits in Gansu Alpine Fine-Wool Sheep Genes · 2024
    10. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form Human mutation · 2008 · 98 citations
    11. Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia American Journal of Human Genetics · 2001 · 14 citations
    12. Hyperandrogenism in polycystic ovarian syndrome and role of CYP gene variants: a review Egyptian Journal of Medical Human Genetics · 2019 · 49 citations
    13. Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families Frontiers in Medicine · 2024 · 3 citations
    14. Unravelling the threads of central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2026
    15. A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice Neurobiology of aging · 2008 · 62 citations
    16. A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits Genetics selection evolution · 2021 · 11 citations
    17. Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits Animals · 2019 · 7 citations
    18. <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy Veterinary medicine and science · 2019 · 7 citations
    19. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations
    20. Ovine KRT81 Variants and Their Influence on Selected Wool Traits of Commercial Value Genes · 2024 · 4 citations
    21. A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair Journal of Medical Genetics · 2015 · 29 citations
    22. Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep Journal of Advanced Research · 2023 · 2 citations
    23. Sequence Variation in Caprine KRTAP6-2 Affects Cashmere Fiber Diameter Animals · 2022 · 2 citations
    24. Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree Frontiers in Genetics · 2025
    25. ACE2 and TMPRSS2 Potential Involvement in Genetic Susceptibility to SARS-COV-2 in Cancer Patients Cell Transplantation · 2020 · 38 citations
    26. Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy Experimental Dermatology · 2019 · 20 citations
    27. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity Journal of Rare Diseases · 2024
    28. Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia American Journal of Human Genetics · 2005 · 195 citations
    29. Male-pattern baldness susceptibility locus at 20p11 Nature Genetics · 2008 · 111 citations
    30. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations