9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
May 2021 in “Journal of the Endocrine Society” A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
1 citations
,
January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzymes Tet1, Tet2, and Tet3 are important for the development of hair follicles and determining hair shape by controlling hair keratin genes.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Hemoglobin α acts as an antioxidant in skin cells, especially protecting hair follicle stem cells from UV damage.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.
April 2018 in “Journal of Investigative Dermatology” Stabilizing HIF1A in hair follicles increases glycolysis, which may help reduce oxidative stress and support hair growth.
January 2019 in “Springer eBooks” Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
29 citations
,
December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
1 citations
,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
5 citations
,
March 2023 in “Archives of dermatological research” Increased HIF-1α is linked to the inflammation and severity of hidradenitis suppurativa, suggesting treatments that lower HIF-1α could help.
3 citations
,
January 2017 in “Yonsei Medical Journal” Blocking 11β-HSD1 can lessen the harmful effects of glucocorticoids on hair growth cells.
64 citations
,
March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
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.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
September 2017 in “Journal of Investigative Dermatology” Stabilizing HIF-1A in hair follicles may reduce oxidative stress and promote hair growth by increasing glycolysis.
29 citations
,
July 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzymes Aldh1a2 and Aldh1a3 are involved in making retinoic acid in hair follicles and have different roles in hair growth.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
Blocking CXCR4 may help treat hidradenitis suppurativa.
29 citations
,
September 1990 in “Biochemical Journal” Enzyme purified and characterized for minoxidil sulphation in rat liver.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.