106 citations
,
March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
10 citations
,
January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
28 citations
,
March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
8 citations
,
March 2014 in “American Journal of Pathology” Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
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.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
4 citations
,
December 2012 in “Arquivos Brasileiros De Endocrinologia E Metabologia” A postmenopausal woman's masculine symptoms improved after surgery for a hormone-producing ovarian tumor.
February 2017 in “Cancer Causes & Control” Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
24 citations
,
June 2012 in “BMC Research Notes” The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
2 citations
,
January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
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.
23 citations
,
May 2013 in “Virology” HPV16 oncogenes disrupt the normal activity of hair follicle stem cells.
January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)” PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
7 citations
,
September 2006 in “Molecular Carcinogenesis” Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.
6 citations
,
December 2022 in “International Journal of Molecular Sciences” EZH2 is crucial for uterine gland development and female fertility.
57 citations
,
May 2014 in “Molecular Phylogenetics and Evolution” The research found how GPCR Class A Rhodopsin receptors are related and suggested possible substances they interact with.
18 citations
,
March 2004 in “The Journal of Urology” Hypospadiac rats showed abnormal genital development, useful for studying human hypospadias.
76 citations
,
June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The TRPV3 channel structure changes linked to severe itch and hyperkeratosis were identified using cryo-EM.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
9 citations
,
May 2019 in “Experimental Cell Research” HPV genes and estradiol increase a cancer-related signaling pathway, which may be targeted for cervical cancer treatment.
2 citations
,
November 2015 in “Journal of Investigative Dermatology” RANKL improves the immune response against herpes simplex virus by enhancing T cell activation and could help develop better treatments or vaccines.
Ribonucleotide excision repair is crucial to prevent skin cancer.
40 citations
,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
28 citations
,
July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
April 2023 in “Journal of Investigative Dermatology” Human TMEM2 does not break down hyaluronan but helps control its metabolism.