1 citations
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November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
February 2020 in “Definitions” 5 Alpha-Reductase Inhibitors reduce the effects of testosterone by blocking its conversion into a stronger form.
64 citations
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March 2008 in “Neuropsychopharmacology”
4 citations
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September 2010 in “Medical Hypotheses”
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
13 citations
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August 1995 in “The Journal of Steroid Biochemistry and Molecular Biology” The activity of a specific rat enzyme in the prostate and epididymis is highly dependent on the acidity level.
56 citations
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December 2002 in “The Journal of Clinical Endocrinology & Metabolism” Human bone cells mainly produce a type 1 enzyme that may help regulate bone health.
12 citations
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June 2019 in “Psychoneuroendocrinology” Allopregnanolone is needed for certain brain processing issues caused by D1 dopamine receptor activation.
57 citations
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May 2014 in “Molecular Phylogenetics and Evolution” The research found how GPCR Class A Rhodopsin receptors are related and suggested possible substances they interact with.
62 citations
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January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
March 2010 in “The Journal of Urology” Methylation of the 5-AR2 gene may cause resistance to Finasteride in BPH patients.
39 citations
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February 2011 in “The Prostate/The prostate” Some men's prostate tissues have low enzyme levels due to genetic changes, possibly affecting treatment for prostate enlargement.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
11 citations
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May 1996 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The main enzyme found in pubic skin that could be targeted to treat excessive hair growth is 5 alpha-R2.
4 citations
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November 2024 in “Cell Biology and Toxicology” Blocking certain receptors in the lungs might help treat a specific type of asthma.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
49 citations
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January 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Selective non-steroidal inhibitors of 5α-reductase type 1 can help treat DHT-related disorders.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
58 citations
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February 2013 in “Journal of Biological Chemistry” LGR5 mainly stays inside cells, moving to the trans-Golgi network, and this process is important for its role in cell signaling.
May 2018 in “KU ScholarWorks (The University of Kansas)” Targeting 5α-reductase type 1 may help manage Tourette-like symptoms.
24 citations
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September 2005 in “Journal of Cellular Biochemistry” Retinoids increase steroid sulfatase activity in leukemia cells through RARα/RXR and involves certain pathways like phosphoinositide 3-kinase and ERK-MAP kinase.
63 citations
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November 1999 in “British journal of dermatology/British journal of dermatology, Supplement” Hair sensitivity to androgens is partly controlled by specific enzyme expressions in different hair areas.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
5 citations
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January 2025 in “Science Advances” 5α-reductase 2 is crucial for stress response in male rats.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
25 citations
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November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.