1 citations,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
47 citations,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
17 citations,
May 2012 in “Journal of biological chemistry/The Journal of biological chemistry” Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
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.
December 2017 in “Elsevier eBooks” The vitamin D receptor helps maintain hair and bone health even without binding vitamin D.
16 citations,
December 2006 in “Expert Review of Dermatology” Hair follicles are essential for skin health, aiding in hair growth, wound healing, and immune function.
189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
January 2008 in “Springer eBooks” Thyroid disease can cause hair loss and treating thyroid problems might help with hair disorders.
120 citations,
February 2009 in “Apoptosis” Understanding how cells die in the skin is important for treating skin diseases and preventing hair loss.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
318 citations,
January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
854 citations,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
24 citations,
January 2018 in “Development” Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
57 citations,
July 2005 in “Genetics” Key genes are crucial for Drosophila wing development and could be insecticide targets.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
28 citations,
November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
6 citations,
December 2021 in “PLoS Genetics” Polycomb Repressive Complex 2 is not needed for hair regeneration.
29 citations,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
21 citations,
June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
66 citations,
January 2001 in “Vitamins and hormones” Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
100 citations,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
29 citations,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
50 citations,
July 1996 in “Cell” Chromosomal changes, including those in the WRN gene and rDNA, may significantly contribute to aging.
138 citations,
November 2015 in “Journal of Pharmacology and Experimental Therapeutics” Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
9 citations,
March 2022 in “Frontiers in Immunology” Foxp3+ Regulatory T Cells are important for immunity and tolerance, affect hair growth and wound healing, and their dysfunction can contribute to obesity-related diseases and other health issues.
124 citations,
December 2016 in “Pharmaceuticals” TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.
8 citations,
December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
40 citations,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
29 citations,
February 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Loss of Fz6 disrupts hair follicle and associated structures' orientation.