46 citations
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May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
January 2004 in “Chinese Journal of Dermatology” Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
14 citations
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June 2012 in “Stem Cells” TACE/ADAM17 is essential for maintaining healthy hair and hair follicle stem cells.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
January 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
70 citations
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April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
January 2004 in “Molecular biotechnology” 108 citations
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April 2004 in “Medicinal Research Reviews” Steroid sulfatase inhibitors could help treat hormone-related disorders and cancers.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
February 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
2 citations
,
February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
37 citations
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January 1993 in “Journal of Investigative Dermatology”
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
June 2024 in “Synthetic and systems biotechnology” A fragment of human type XVII collagen shows great potential for skin health and wound healing.
31 citations
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April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
70 citations
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December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
77 citations
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February 2017 in “Stem Cell Reports” SHISA6 helps maintain certain stem cells in mouse testes by blocking signals that would otherwise cause them to differentiate.
58 citations
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June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
1 citations
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January 2013 July 2025 in “Genome biology” HT-scCAT-seq helps understand gene regulation in embryonic skin development.
34 citations
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January 2004 in “Genomics” A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
18 citations
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June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
February 2026 in “Applied Biosciences” The study found potential new DNA patterns in fertility genes, but further testing is needed.