Search
for

    Sort by

    Research 301–330 of 1000+

    1. 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
    2. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    3. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
    4. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    5. Tanshinone IIA pretreatment protects free flaps against hypoxic injury by upregulating stem cell-related biomarkers in epithelial skin cells BMC Complementary and Alternative Medicine · 2014 · 13 citations
    6. A case of extensive alopecia areata following Pfizer‐BioNTech BNT162b2 mRNA COVID‐19 vaccine with favorable outcome Journal of Cutaneous Immunology and Allergy · 2023 · 9 citations
    7. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    8. Gene detection in a family with monilethrix and treatment with 5% topical minoxidil Skin research and technology · 2022 · 2 citations
    9. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy 2022 · 1 citations
    10. <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis Animal Genetics · 2026
    11. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    12. Analysis of LncRNA and mRNA Expression Profiles in Skin Tissues of Super Merino Sheep and Small-Tailed Han Sheep 2023
    13. 316 Role of platelet and growth factor concentration in platelet rich plasma therapeutic response to alopecia Journal of Investigative Dermatology · 2022
    14. Regulation of stem cell function by protein ubiquitylation EMBO Reports · 2014 · 55 citations
    15. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    16. Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma The Journal of Pathology · 2007 · 50 citations
    17. Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization Structure · 2017 · 24 citations
    18. The Localization of Label-Retaining Cells in Mouse Nails Journal of Investigative Dermatology · 2007 · 22 citations
    19. Mechanisms of proton inhibition and sensitization of the cation channel TRPV3 The Journal of General Physiology · 2020 · 15 citations
    20. Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations PloS one · 2014 · 15 citations
    21. Hydroxytyrosol Alleviates Acute Liver Injury by Inhibiting the TNF-α/PI3K/AKT Signaling Pathway via Targeting TNF-α Signaling International Journal of Molecular Sciences · 2024 · 12 citations
    22. Copper Modulates Mitochondrial Oxidative Phosphorylation to Enhance Dermal Papilla Cells Proliferation in Rex Rabbits International Journal of Molecular Sciences · 2022 · 12 citations
    23. Genetic analysis of interleukin 18 gene polymorphisms in alopecia areata Journal of Clinical Laboratory Analysis · 2018 · 12 citations
    24. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin Genetics in medicine · 2018 · 10 citations
    25. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    26. Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan Genes · 2016 · 9 citations
    27. The potential of Clausena anisata (Willd.) Hook.f. ex Benth against Propionibacterium acnes South African journal of botany · 2018 · 7 citations
    28. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets Bone Research · 2016 · 7 citations
    29. Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous Diagnostics · 2022 · 5 citations
    30. Comparison of the impact of intermittent fasting diet alone or in conjunction with probiotic supplementation versus calorie-restricted diet on inflammatory, oxidative stress, and antioxidant capacity biomarkers in women with polycystic ovary syndrome: A randomized placebo-controlled trial Journal of Research in Medical Sciences · 2025 · 3 citations