13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
11 citations
,
March 2014 in “Journal of The European Academy of Dermatology and Venereology” Hair loss gene linked to prostate issues.
29 citations
,
July 2013 in “The Journal of Sexual Medicine” Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
195 citations
,
June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
November 2023 in “Biology” N6-methyladenosine affects hair follicle development differently in Rex and Hycole rabbits.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
28 citations
,
July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
6 citations
,
March 1996 in “Journal of Investigative Dermatology”
February 2010 in “Journal of The American Academy of Dermatology” Methotrexate treatment for rheumatoid arthritis has a serious infection rate of about two per 100 patient-years.
48 citations
,
April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
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.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
January 2011 in “Linchuang pifuke zazhi” 2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
16 citations
,
June 1983 in “Journal of Neurochemistry” Copper therapy improved health and enzyme activity in mice with copper deficiency.
4 citations
,
December 2020 Methotrexate may help stabilize frontal fibrosing alopecia.
August 2019 in “Journal of Invertebrate Pathology” Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
October 2023 in “Cell & bioscience” A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
10 citations
,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
32 citations
,
July 2017 in “Oncotarget” Alternating treatment with two drugs could help cells in a rapid aging disease.