25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
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.
A specific gene change in APCDD1 increases the risk of hair loss.
36 citations
,
September 2015 in “Forensic Science International: Genetics” Certain DNA variants can predict straight hair in Europeans but are not highly specific.
4 citations
,
April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
47 citations
,
April 2021 in “BMC Medical Genomics” Certain gene variants can influence acne risk and severity.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
32 citations
,
January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
4 citations
,
September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
2 citations
,
March 2024 in “International Journal of experimental research and review” Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
1 citations
,
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” PCOS is likely inherited in families, increasing risk for first-degree relatives.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
175 citations
,
August 1997 in “Nature Genetics” Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
5 citations
,
March 2021 in “F1000Research” A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.