5 citations
,
January 2020 in “Bioscience Reports” Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
5 citations
,
March 2005 in “Journal of The American Academy of Dermatology”
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
The naked mutation in mice causes hair loss and helps identify keratin genes.
2 citations
,
October 2024 in “Phenomics”
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Krox20 is important for maintaining stem cells in the skin and affects hair growth and color.
27 citations
,
June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
53 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” KAP genes show significant genetic variability, but its impact on hair traits is unclear.
4 citations
,
March 2024 in “Journal of Investigative Dermatology” SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
April 2019 in “Journal of Investigative Dermatology” Increasing COX-2 in mouse skin causes bigger sebaceous glands and thinner hair, but stopping COX-2 can reverse hair thinning.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
7 citations
,
November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
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.
14 citations
,
April 2016 in “PloS one” The KRTAP11-1 gene promoter is crucial for specific expression in sheep wool cortex.
October 2022 in “Journal for Research in Applied Sciences and Biotechnology” Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
16 citations
,
February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
48 citations
,
January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” XEDAR triggers a specific signaling pathway in cells.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
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.
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.