6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
3 citations
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January 2009 in “Sen'i Gakkaishi” Using both TGA and DTDG in hair straightening reduces hair damage compared to using TGA alone.
62 citations
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January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
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.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
3 citations
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January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
May 2026 in “ACS Catalysis” Efficient enzyme function relies on specific residue interactions and structural coordination.
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.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
130 citations
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January 2000 in “Nature biotechnology” 20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
13 citations
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January 2005 in “Chemical and Pharmaceutical Bulletin” Smaller substituents at C-17 enhance the inhibitory activity of progesterone derivatives on 5alpha-reductase.
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
19 citations
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June 1999 in “Steroids” Different halogens on progesterone derivatives can either block or mimic male hormone effects, depending on their type and amount.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
48 citations
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June 2000 in “Japanese Journal of Cancer Research” Dimethylarsinic acid speeds up skin tumor growth in certain mice.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
May 2024 in “Journal of molecular structure” A new compound, 3a, effectively fights prostate cancer better than finasteride.
1 citations
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October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
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.
January 2007 in “日本看護学会抄録集 成人看護1” Certain amino acids in 5AR1 and 5AR2 are crucial for binding and resistance to Finasteride.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
October 2012 in “Sax's Dangerous Properties of Industrial Materials” 25 citations
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March 2004 in “Regulatory Toxicology and Pharmacology” Using testosterone-stimulated weanling rats can effectively replace castrated rats for anti-androgen testing, reducing animal stress.