36 citations
,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
July 2024 in “Indian Journal of Dermatology Venereology and Leprology” Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
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.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
50 citations
,
February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
1 citations
,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
January 2024 in “Australasian journal of dermatology (Print)” A boy's hair turned red because of genetic mutations, not lack of zinc.
372 citations
,
December 2004 in “Nature Genetics” 23 citations
,
January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
1 citations
,
April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
1 citations
,
April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
2 citations
,
January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
50 citations
,
April 2014 in “Nature Communications” The research identified new skin traits in mice, some linked to human skin conditions.
28 citations
,
August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.
1 citations
,
January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
7 citations
,
May 2005 in “Experimental Dermatology” Two mouse mutations cause similar hair loss despite different skin changes.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
A specific gene change in APCDD1 increases the risk of hair loss.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.