36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
29 citations,
January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
27 citations,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
23 citations,
December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” Genetic discoveries are leading to new treatments for alopecia areata.
22 citations,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
15 citations,
September 2018 in “Hearing research” Rapamycin reduces age-related hearing cell loss in mice, but acarbose does not.
12 citations,
January 2021 in “International Journal of Biological Sciences” Scientists successfully edited a goat's genes to grow more and longer cashmere hair.
6 citations,
October 2020 in “Frontiers in cell and developmental biology” WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
6 citations,
September 2012 in “Our Dermatology Online” Retinoids are effective for various skin conditions and hair loss but have serious side effects, so low doses are recommended.
6 citations,
June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
3 citations,
January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
3 citations,
December 2022 in “Cells” Cannabinoids like CBD and THC may help treat non-cancer skin diseases, but more research is needed.
3 citations,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
3 citations,
January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
2 citations,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
1 citations,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
1 citations,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
1 citations,
January 2022 in “Springer eBooks” September 2024 in “Medicina” Certain gene variations may protect against skin issues and oxidative stress in women with PCOS.
February 2024 in “International Journal of Molecular Sciences” Hair loss in Androgenetic Alopecia is caused by genetics, aging, and lifestyle, leading to hair follicle shrinkage and related health risks.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
September 1973 in “Primates” 5 citations,
February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
5 citations,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
8 citations,
October 1988 in “Clinics in dermatology” The best animal model for studying male-pattern baldness is the stumptailed macaque, not rats or mice.
5 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
4 citations,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
70 citations,
January 2014 in “International review of cell and molecular biology” Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.