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.
November 2008 in “British Journal of Hospital Medicine” Non-drug methods effectively managed agitation in a patient with a heart device, leading to improved mental function.
January 2004 in “Pharmaceutical biotechnology” Finasteride effectively inhibits the enzyme steroid 5 alpha-reductase II.
March 2021 in “Research Square (Research Square)” Strontium ranelate helps cartilage growth by blocking a specific cell pathway.
April 2024 in “The Journal of urology/The journal of urology” SRD5A2 methylation in blood can predict how well someone will respond to finasteride treatment.
50 citations
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October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
October 2022 in “Amplla Editora eBooks” Deep Brain Stimulation helps manage Parkinson's symptoms when medication isn't enough.
October 2023 in “Scientific Reports” Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
39 citations
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August 1998 in “FEBS Letters” Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
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.
104 citations
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May 2003 in “Endocrinology” Lampreys have a functional vitamin D receptor that may help detoxify harmful substances.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
January 2025 in “International Journal of Molecular Sciences” Non-liganded Vitamin D Receptor is crucial for healthy skin and hair.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
34 citations
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July 2009 in “Journal of Cell Science” ΔNp63α helps control a protein that stops cancer cells from spreading.
8 citations
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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.
1 citations
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September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
Lower DHT and higher testosterone levels increase brain activation but don't change behavior in heavy drinkers.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
54 citations
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May 2015 in “Endocrinology” Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.
2 citations
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February 2024 in “Journal of the European Academy of Dermatology and Venereology” The study created a 27-item measure to assess the impact of skin diseases.
June 2026 in “Precision medicine and engineering.” The hydrogel dressing RD@PVA helps heal diabetic wounds by reducing stress and improving blood vessel growth.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
April 2023 in “Journal of Investigative Dermatology” Some patients who had a severe drug reaction developed long-term hair loss.
42 citations
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August 2012 in “Psychoneuroendocrinology” Finasteride reduces certain behaviors caused by D1-like receptor agonists but not by D2-like receptor agonists in mice.
98 citations
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July 2006 in “Neuropsychopharmacology” 26 citations
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September 2005 in “Pharmacology Biochemistry and Behavior” 5alpha-reductase 2 is crucial for proper male brain development and sexual differentiation.
March 2024 in “EMBO molecular medicine” Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
February 2026 in “Trials” The Exfoliate-Dissolve-Repair skincare approach may effectively treat keratosis pilaris and reduce the need for corticosteroids.