January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
53 citations,
February 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
43 citations,
January 2014 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
39 citations,
May 2019 in “The journal of immunology/The Journal of immunology” Malt1 protease is essential for regulatory T cell function and could be targeted to boost antitumor immunity.
22 citations,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
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.
5 citations,
October 2022 in “Frontiers in bioengineering and biotechnology” Ro stress hindered ginseng root growth and ginsenoside production, but increased certain hormones and affected gene regulation related to plant growth and stress responses.
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.
3 citations,
October 2023 in “Military Medical Research/Military medical research” Regulatory T cells help heal skin and grow hair, and their absence can lead to healing issues and hair loss.
2 citations,
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Hairless mammals have genetic changes in both their protein-coding and regulatory sequences related to hair.
1 citations,
February 2023 in “Plants” BB4CMU rice bran oil may help treat hair loss and gray hair.
1 citations,
December 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
FGF9 helps hair follicles grow in small-tailed Han sheep by affecting cell growth and certain signaling pathways.
May 2023 in “Frontiers in Immunology” Treg cell-based therapies might help treat hair loss from alopecia areata, but more research is needed to confirm safety and effectiveness.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
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.
76 citations,
June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
52 citations,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
25 citations,
August 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
8 citations,
June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
4 citations,
May 2021 in “The American Journal of Surgical Pathology” Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.
3 citations,
August 2023 in “Genes” The document concludes that various signaling pathways and genetic factors are crucial for chicken feather development, affecting poultry quality.
7 citations,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
May 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.