13 citations
,
November 2013 in “Journal of Endocrinology/Journal of endocrinology” Vitamin D receptor helps control hair growth genes in skin cells.
4 citations
,
April 2007 in “Journal of Pediatric Gastroenterology and Nutrition” A liver transplant patient with APECED had a rare VZV recurrence and pneumonia, treated successfully, but later died from other infections.
1 citations
,
December 2019 in “Canadian journal of ophthalmology” A girl with type 1 diabetes developed a serious eye condition very early, suggesting the need for earlier eye checks and that early treatment can work well.
277 citations
,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
January 1994 in “Toxicological Sciences” Lower dosages of 2-(difluoromethyl)-dl-ornithine might reduce side effects, supporting further research.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
January 1954 in “DMW - Deutsche Medizinische Wochenschrift” 71 citations
,
October 2014 in “The Journal of Steroid Biochemistry and Molecular Biology” Vitamin D receptor helps prevent skin cancer and supports skin health.
January 2018 in “Journal of Investigative Dermatology” Blocking certain pathways with kinase inhibitors may help treat cutaneous lupus erythematosus.
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.
81 citations
,
March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
3 citations
,
January 2025 in “SAGE Open Medical Case Reports” Deucravacitinib helped regrow hair and reduce plaques in a woman with discoid lupus erythematosus without side effects.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
3 citations
,
July 2025 in “Stem Cell Research & Therapy” lncRNA VIM-AS1 helps heal diabetic wounds by boosting energy production and reducing cell aging.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
1 citations
,
April 2019 in “Journal of Investigative Dermatology” Dupilumab is effective and safe for treating moderate-to-severe atopic dermatitis in adolescents.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
34 citations
,
July 2009 in “Journal of Cell Science” ΔNp63α helps control a protein that stops cancer cells from spreading.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
29 citations
,
January 2003 in “KARGER eBooks” HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” The document concludes that various skin conditions have specific characteristics and treatments, and highlights the importance of vitamin D in managing these dermatological issues.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
215 citations
,
September 2003 in “Journal of Biological Chemistry” Vitamin D receptor and hairless protein are essential for hair growth.
10 citations
,
June 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Vitamin D receptor helps protect skin cells from UV damage and supports their growth.
Vogt–Koyanagi–Harada disease can cause rare hair growth on normally hairless thumb skin.
60 citations
,
September 2004 in “Pediatric Dermatology” A girl developed vitiligo and psoriasis after hepatitis B treatment, and stopping the treatment didn't help.
45 citations
,
July 2025 in “Journal of Medicinal Chemistry” Vepdegestrant may become the first FDA-approved PROTAC degrader, marking a new era in drug development.