260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
4 citations
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May 2022 in “Genes & Diseases”
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
1 citations
,
May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
10 citations
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February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
45 citations
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January 2012 in “The Journal of Steroid Biochemistry and Molecular Biology” Too much AKR1C3 enzyme causes resistance to finasteride by increasing testosterone.
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.
1 citations
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June 2023 in “Animals” CRABP2 helps increase the growth of cells important for hair growth by activating a specific growth pathway.
October 2007 in “Revue du Rhumatisme”
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
1 citations
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January 2017 in “The Annals of Clinical and Analytical Medicine” Vitamin D receptor gene changes don't affect alopecia areata risk.
15 citations
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January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
1 citations
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September 2010 in “UEF eRepo (University of Eastern Finland)” Androgen receptors help prostate cancer cells grow and resist drugs.
April 2026 in “Communications Biology” The development of breeding tubercles in male zebrafish relies on a specific enzyme that processes hormones.
1 citations
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November 2023 in “SKIN The Journal of Cutaneous Medicine”
May 2021 in “The FASEB Journal” The research gives new understanding on how human steroid 5α-reductases work and how drugs like finasteride inhibit them, which could help in creating new drugs.
18 citations
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January 2013 in “Evidence-based Complementary and Alternative Medicine” Aconiti Lateralis Preparata Radix helps mouse stem cells grow and turn into bone cells faster than usual methods.
42 citations
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July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
41 citations
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April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
11 citations
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August 2014 in “PLoS ONE” GFRα2 is essential for controlling neuron size but not for target innervation in certain sensory neurons.
March 2023 in “The Journal of Urology” Higher SRD5A2 expression predicts better response to finasteride in treating urinary symptoms.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
5 citations
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December 2023 in “Current Biology” A feedback loop between LRH and RSL4 controls root hair growth in Arabidopsis.
9 citations
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September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.