4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
81 citations
,
March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
2 citations
,
June 2012 in “Journal of Dermatological Science” The gene HDC is important for the development of hair follicles in newborn mice.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
35 citations
,
April 2009 in “Journal of Neuroscience Research” HDAC inhibitors help brain cells grow and improve brain function.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
October 2023 in “The Journal of Dermatology” The HSVS-A is an effective tool for quickly screening hair shedding in Asian women.
October 2014 in “Archives of Disease in Childhood” Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
January 2026 in “Figshare” January 2026 in “Figshare” 14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
10 citations
,
April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
The document's conclusion cannot be provided because the document is not available or cannot be read.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
January 2025 in “Pakistan Journal of Health Sciences” The Cyp11a1 gene variation has a weak link to PCOS, but higher di-hydro-testosterone levels are found in PCOS patients.
3 citations
,
December 2023 in “Aging” hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
7 citations
,
June 1989 in “Steroids” Researchers successfully made new compounds for hormone level tests, but one attempt led to an unexpected product, correcting a past error.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
2 citations
,
January 2009 in “Human cell culture”
January 1981 in “The Journal of Toxicological Sciences” Hydrocortisone 17-butyrate 21-propionate ointment caused reversible side effects like skin issues, weight gain, and organ changes in dogs.
8 citations
,
August 2022 in “BMC Veterinary Research” C57BL/6 mice and SD rats have different sweat gland and hair follicle patterns, useful for skin research.
1 citations
,
July 2021 in “Acta dermatovenerologica Croatica” Adalimumab significantly improved symptoms and quality of life in two patients with Hidradenitis Suppurativa.
April 2023 in “Journal of Investigative Dermatology” Skin cells and immune cells change in a skin condition called hidradenitis suppurativa, and a certain treatment can improve these changes.
Lhx2 helps retinal cells respond to signals for eye development.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
1 citations
,
November 2022 in “Journal of the Endocrine Society” Adults with classic congenital adrenal hyperplasia value medication that prevents weight gain from glucocorticoids the most.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
10 citations
,
January 2013 in “Stem Cells and Development” Scientists identified a unique type of human skin stem cell that could help with tissue repair.