8 citations
,
May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
1 citations
,
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Injury boosts normal skin cell growth, reducing cancer cell advantage.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Genetic testing is crucial for diagnosing rare hair loss disorders.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
A specific gene change in APCDD1 increases the risk of hair loss.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Prss53 affects hair shape and bone development in rabbits.
80 citations
,
June 1997 in “The American Journal of Human Genetics” 2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
1 citations
,
July 2020 in “The Egyptian Journal of Hospital Medicine” The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
4 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
42 citations
,
April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
29 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
11 citations
,
March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
2 citations
,
February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
106 citations
,
March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
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.