February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
1 citations
,
January 2021 in “Prague medical report” Men might have a version of the female disease, polycystic ovarian syndrome, shown by changes in hormone levels and early baldness, but more research is needed to fully understand it.
7 citations
,
April 1992 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Women with non-classical congenital adrenal hyperplasia have higher levels of certain steroids, which can be reduced by treatment.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
12 citations
,
January 1987 in “Ophthalmic Paediatrics and Genetics” Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
May 2020 in “Current developments in nutrition” Vitamin A affects the resting phase of hair growth, with both low and high levels increasing the number of hair follicles in this phase.
19 citations
,
December 1990 in “Journal of Histochemistry & Cytochemistry” Foreskin keratinocytes and SVK14 cells express certain cytochrome P450 enzymes, unlike hair follicle keratinocytes.
28 citations
,
April 2017 in “Journal of cosmetic dermatology” Low vitamin D can worsen pediatric alopecia areata.
1 citations
,
March 2022 in “Journal of Dermatological Science” Adding TERT and BMI1 to certain skin cells can improve their ability to create hair follicles in mice.
37 citations
,
April 2011 in “Journal of Biological Chemistry” LEF1 interacts with Vitamin D Receptor, affecting hair follicle regeneration and this could be linked to hair loss conditions.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
4 citations
,
July 1987 in “Laboratory Animals” Female rats aged 8 weeks are best for this model.
November 2024 in “Journal of Investigative Dermatology” Stimulating OR10J1 can promote hair growth and may help treat hair loss.
22 citations
,
January 2010 in “Humana Press eBooks” The vitamin D receptor can affect gene activity even without its usual hormone in hair and skin.
9 citations
,
August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
114 citations
,
May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
16 citations
,
May 1995 in “Biochemical and Biophysical Research Communications” Both enzyme forms can sulfate minoxidil.
January 2011 in “Medical Recapitulate” 5α-reductase enzyme affects hormone levels, influencing conditions like acne and hair loss.
Vitamin D receptor helps prevent skin tumors.
9 citations
,
August 1952 in “The Journal of Clinical Endocrinology & Metabolism” A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
17 citations
,
April 2007 in “Kidney international” Vitamin D boosts a specific gene activity in kidney cells that could improve heart and kidney function.
9 citations
,
October 2014 Vitamin D receptor helps prevent skin tumors.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
2 citations
,
May 2022 in “Diagnostics” Vitamin D levels in hair don't match those in blood, so hair isn't a reliable indicator of Vitamin D status.
12 citations
,
December 2016 in “The FASEB Journal” Lack of vitamin D receptor causes hair loss in mice by allowing certain genes to overactivate.