34 citations
,
September 1997 in “Acta Dermato Venereologica” RXR agonists may promote hair growth in humans.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
15 citations
,
March 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” As skin cells mature, vitamin D receptor levels decrease while retinoid X receptor α levels increase.
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.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
January 2011 in “Nuclear Techniques” Lead levels in hair increased due to environmental exposure, while iron, copper, and zinc levels stayed stable.
75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
67 citations
,
August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
8 citations
,
January 2012 in “General and Comparative Endocrinology” 5α-Reductase helps regulate hormone action in toad testes, especially during breeding season.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
232 citations
,
January 2002 in “Mechanisms of development” Different enzymes are active in different parts of developing mouse organs.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
109 citations
,
February 2018 in “CB/Current biology” ERULUS controls root hair growth by regulating cell wall composition and pectin activity.
46 citations
,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
34 citations
,
March 2007 in “Biochemical and Biophysical Research Communications” Thioredoxin reductase 1 does not affect glucocorticoid receptor activity in hair follicle cells.
5 citations
,
August 2021 in “Journal of biological chemistry/The Journal of biological chemistry” Retinoic acid affects male and female muscle energy use and function differently.
January 2008 in “中山醫學大學醫學研究所學位論文” Danthron from Rhubarb causes melanoma cells to stop growing and die.
62 citations
,
January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The reconstructed skin model from hair follicles functions like human skin in processing chemicals and can be used to test ingredient safety.
57 citations
,
August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
11 citations
,
January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
79 citations
,
June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
33 citations
,
February 2016 in “Journal of Experimental Botany” ROOT HAIR SPECIFIC 10 (RHS10) reduces the length of root hairs in Arabidopsis plants.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
32 citations
,
May 2018 in “The Plant Cell” ERULUS is crucial for root hair growth by controlling calcium levels.
Lhx2 helps retinal cells respond to signals for eye development.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.