12 citations
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February 2023 in “Applied and Environmental Microbiology” Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
6 citations
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March 1996 in “Journal of Investigative Dermatology” 46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
March 2016 in “The Journal of Urology” The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
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.
April 2022 in “Reactions Weekly”
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.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
36 citations
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November 2005 in “Forensic Science International” BioPlex-11 improves DNA profiling from telogen hair roots in forensic work.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
October 2025 in “Communications Medicine” Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
38 citations
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February 1989 in “Journal of Investigative Dermatology”
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
15 citations
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February 2021 in “Cells” Transfected cells with VEGF and FGF2 genes improve skin wound healing by enhancing blood flow and regeneration.
51 citations
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December 2006 in “Mammalian Genome”
January 2024 in “Inflammation and regeneration” Th22 cells are essential for Tβ15-induced hair growth in mice.
November 2023 in “Scientific reports” The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
36 citations
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March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
5 citations
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January 2015 in “Genetics and Molecular Research” Maize hybrids show better early growth due to complex gene interactions from their parent strains.
September 2022 in “Zenodo (CERN European Organization for Nuclear Research)”
July 2020 in “Indian journal of sexually transmitted diseases and AIDS” The document concludes that it's concerning when a teenage boy has both gonorrhea and syphilis at the same time.
November 2022 in “Zenodo (CERN European Organization for Nuclear Research)”
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
May 2023 in “Elsevier eBooks” The document's conclusion cannot be provided because the document is not readable or understandable.
86 citations
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
1 citations
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May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
K15 and Id3 are important in hair follicle regeneration, with K15 increasing in early stages and Id3 responding later.