1 citations,
January 2020 in “Research Square (Research Square)” Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
216 citations,
November 1999 in “Fertility and Sterility” Testing basal 17-HP levels is a good way to screen for nonclassic adrenal hyperplasia in women with high androgen levels.
151 citations,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
54 citations,
January 2016 in “Cell reports” Activating β-catenin in different skin stem cells causes various types of hair growth and skin tumors.
75 citations,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
4 citations,
December 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Overactive Wnt signaling in mouse skin stem cells causes acne-like cysts and shrinking oil glands, which some treatments can partially fix.
2 citations,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
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.
9 citations,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
6 citations,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
1 citations,
February 2021 in “Scholars international journal of anatomy and physiology” Different forms of FGF5 either promote or inhibit hair growth.
December 2023 in “Frontiers in endocrinology” Excess androgens may cause PCOS, not just be a symptom.
August 2023 in “Research Square (Research Square)” Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
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.
87 citations,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
40 citations,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
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.
26 citations,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
22 citations,
November 2011 in “Journal of Analytical Toxicology” Scientists have developed a new method to detect steroid abuse in athletes using cell-based tests, which could be the future of anti-doping methods.
17 citations,
November 2017 in “Asian-Australasian journal of animal sciences” Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
6 citations,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
2 citations,
August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
2 citations,
December 2019 in “Journal of The European Academy of Dermatology and Venereology” Differences in gene expression and methylation patterns found in AGA patients suggest potential targets for future treatments.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists made a mouse that shows how a specific protein in the skin changes and affects hair growth and shape.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Activating β-catenin increases melanocytes and decreases Schwann cells.
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.
42 citations,
September 2015 in “Gene” FGF5s can block the effects of FGF5, which may help control hair growth in cashmere goats.