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.
A new genetic mutation was found causing hair and eye issues in a boy.
18 citations
,
September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
37 citations
,
February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
March 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Suppressing very long chain fatty acids is linked to skin cancer.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
11 citations
,
October 2017 in “Oncotarget” Gsdma3 affects hair growth by controlling Wnt5a, which influences hair cell development.
22 citations
,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
53 citations
,
October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
1 citations
,
March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
11 citations
,
October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
24 citations
,
January 2023 in “Cancer Research” AMPK activation may reduce melanoma risk in red-haired individuals.
638 citations
,
October 1997 in “Nature”
2 citations
,
August 2019 in “BMC Complementary and Alternative Medicine” Asiasari radix extract may be a potential treatment for melanoma because it selectively triggers cell death in melanoma cells by affecting p53 regulation.
42 citations
,
December 2016 in “Cell Death & Differentiation” Damaging mitochondrial DNA in mice speeds up aging due to increased reactive oxygen species, not through the p53/p21 pathway.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
114 citations
,
July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
18 citations
,
January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
54 citations
,
May 2001 in “Journal of Investigative Dermatology” Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
April 2010 in “Cancer Research” CDK4 levels affect the number of hair follicle stem cells in mice.
3 citations
,
March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
10 citations
,
May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.
1 citations
,
August 2023 in “Journal of cutaneous pathology” The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
49 citations
,
August 2004 in “The FASEB Journal” Mice with human skin protein K8 had more skin problems and cancer.
21 citations
,
June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
July 2022 in “Journal of Investigative Dermatology”