19 citations,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
5 citations,
February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
21 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
1 citations,
August 2019 in “Pediatric dermatology” Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.
March 2022 in “Journal of cosmetic dermatology” Botanical extracts can help treat hair loss in people with certain genetic conditions.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
July 2024 in “Journal of Dermatological Treatment” Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
62 citations,
August 2014 in “BMC Endocrine Disorders” New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
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.
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.
7 citations,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
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.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
3 citations,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
39 citations,
May 2011 in “Human Immunology” Genetics play a role in acne, but how exactly they contribute is not fully understood.
22 citations,
March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
75 citations,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
44 citations,
January 1999 in “Advances in pharmacology” The document concludes that the androgen receptor's structure and function are complex, affecting how it regulates genes and is involved in diseases like prostate cancer.
14 citations,
September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
9 citations,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
7 citations,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
7 citations,
December 1981 in “International Journal of Dermatology” Understanding genes can help diagnose and treat skin color disorders.
5 citations,
May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
2 citations,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
73 citations,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
13 citations,
November 2009 in “Journal of Dermatological Science” A gene mutation causes woolly hair in a Syrian patient.