October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
May 2012 in “Journal of Clinical Oncology” Taking 5-alpha reductase inhibitors might be linked to breast cancer in men.
45 citations
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July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
47 citations
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February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
February 2014 in “Revista Argentina de Cardiología” Androgens may increase arrhythmias in Brugada Syndrome, while Finasteride could reduce them.
64 citations
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March 2008 in “Neuropsychopharmacology”
9 citations
,
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.
82 citations
,
July 2012 in “Brain pathology” High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
1 citations
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November 2024 in “Cureus” Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
1 citations
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December 2024 in “Journal of Orthopaedic Research®” Aromoline and DRD4 are potential targets for osteoarthritis treatment.
4 citations
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February 2015 in “Journal of Clinical Laboratory Analysis” A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
The treatment was not recommended due to limited effectiveness and significant side effects.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene network led by RSL4 is crucial for early root hair growth in response to cold in Arabidopsis thaliana.
January 2008 in “OhioLink ETD Center (Ohio Library and Information Network)” SARMs work differently in tissues due to unique interactions and structures.
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
February 2020 in “Definitions” 5 Alpha-Reductase Inhibitors reduce the effects of testosterone by blocking its conversion into a stronger form.
6 citations
,
March 1996 in “Journal of Investigative Dermatology” FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
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.
The role of 5α-reductase-3 in prostate cancer is unclear and needs more research.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
March 2016 in “The Journal of Urology” The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
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.
The vitamin D receptor has many roles in the body beyond managing calcium, affecting the immune system, hair growth, muscles, fat, bone marrow, and cancer cells.
20 citations
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June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” Certain inhibitors can potentially treat prostate cancer and other hormone-dependent conditions by controlling sex hormone levels in cells.