February 2024 in “Cancers” New treatments targeting androgen receptors show promise for drug-resistant prostate cancer.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
25 citations
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June 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
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.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
210 citations
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February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
22 citations
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October 2001 in “Biochemical Pharmacology” GI198745 is more potent and longer-lasting than finasteride, potentially better for treating hair loss.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
20 citations
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July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
1 citations
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November 2015 in “Cochrane library” 5-alpha-reductase inhibitors help treat urinary symptoms from an enlarged prostate.
23 citations
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June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
64 citations
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March 2008 in “Neuropsychopharmacology” June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
May 2018 in “KU ScholarWorks (The University of Kansas)” Targeting 5α-reductase type 1 may help manage Tourette-like symptoms.
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.
20 citations
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September 2005 in “Endocrinology” Certain changes to the B-ring of androgen receptor ligands can increase their effectiveness for potential treatments of muscle and bone conditions.
1 citations
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May 2020 in “Beilstein Journal of Organic Chemistry” Scientists made a sensor that can detect a specific type of RNA related to androgen receptors quickly and accurately.
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
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.
4 citations
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September 2010 in “Medical Hypotheses” 71 citations
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October 2014 in “The Journal of Steroid Biochemistry and Molecular Biology” Vitamin D receptor helps prevent skin cancer and supports skin health.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
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.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
15 citations
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February 2021 in “Scientific Reports” RNA aptamers can specifically block FGF5-related cell growth, potentially treating related diseases or hair disorders.