8 citations,
June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
5 citations,
July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
August 2014 in “Springer eBooks” Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
42 citations,
July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
7 citations,
March 2022 in “Frontiers in Genetics” The research found specific genes that may cause longer hair in Tianzhu White Yak.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
39 citations,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
30 citations,
October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
January 2012 in “Methods in pharmacology and toxicology” TRPV3 could be a target for treating pain, skin disorders, and hair problems, but more research is needed to create effective drugs.
December 1991 in “Annals of the New York Academy of Sciences” Keratin proteins are crucial for hair structure and strength.
78 citations,
October 2020 in “Experimental Dermatology” Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.
43 citations,
June 2018 in “Clinics in dermatology” People with atopic dermatitis are more likely to develop other skin conditions due to shared genetics and immune pathways.
36 citations,
October 1996 in “Dermatologic Clinics” Mice are useful for researching human hair loss and testing treatments, despite some differences between species.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
20 citations,
May 2016 in “Journal of Cosmetic Dermatology” Low vitamin D receptor levels found in hair loss patients; topical vitamin D treatment suggested.
6 citations,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
2 citations,
November 2015 in “Actas Dermo-Sifiliográficas” Epidermal stem cells show promise for future dermatology treatments due to ongoing advancements.
2 citations,
November 2011 in “InTech eBooks” Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
1 citations,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
1 citations,
February 2009 in “Journal of Investigative Dermatology” Lipase H is important for hair follicle function and shaping hair fibers.
1 citations,
May 2001 in “Pharmacology & Toxicology” Cyproterone acetate may cause liver cancer at high doses, but is considered safe at recommended doses for approved uses.
September 2023 in “Frontiers in cell and developmental biology” Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
223 citations,
January 2014 in “International Journal of Molecular Sciences” The conclusion is that proper signaling is crucial for hair growth and development, and errors can lead to cancer or hair loss.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
136 citations,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
49 citations,
October 2009 in “Cancer research” Disrupting Stat3 in hair follicle stem cells greatly reduces skin tumor formation.
30 citations,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.