23 citations
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July 1979 in “Canadian journal of biochemistry” Spironolactone reduces the number of androgen receptor sites in rat skin by blocking them with its metabolite.
October 2016 in “Letters in Drug Design & Discovery” 55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
22 citations
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November 2011 in “Journal of Analytical Toxicology” Scientists have developed a new method to detect steroid abuse in athletes using cell-based tests, which could be the future of anti-doping methods.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
101 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” 5α-reductase is essential for male sexual development and its inhibitors have potential in treating various conditions related to hormone action.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.
12 citations
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February 2023 in “Applied and Environmental Microbiology” Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
39 citations
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July 1987 in “Journal of Investigative Dermatology” Neurosteroids help control dopamine responses in the brain.
27 citations
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January 2017 in “Neuropsychopharmacology” The enzyme 5α-reductase is key in causing psychotic-like effects from sleep deprivation.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
1 citations
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September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
10 citations
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January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
6 citations
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September 2015 in “Journal of Medicinal Chemistry” The document confirms the structures of major metabolites of the CRTh2 antagonist Setipiprant and identifies minor metabolites.
42 citations
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May 1997 in “The Journal of Biochemistry” PAD type III enzyme is specific to rat skin and hair follicles.
253 citations
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April 2009 in “Journal of Biological Chemistry” p2y5, now called LPA6, is a receptor important for human hair growth.
123 citations
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December 1997 in “Calcified Tissue International” Higher androgen levels and site-specific AR expression cause sex-related skeletal differences, and certain steroids can boost AR expression and androgen effects in bone cells.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
16 citations
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March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
15 citations
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January 1993 in “DNA sequence” KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
August 2024 in “Steroids” The androgen receptor's shape-changing ability helps it function but can lead to cancer treatment resistance.
28 citations
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February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
6 citations
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March 2009 in “Journal of the European Academy of Dermatology and Venereology” Mexican patients had a lower incidence of skin reactions to drugs and no significant link between these reactions and the TNF2 gene variant.