November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
February 2024 in “Future science OA” Loss of the Y chromosome and UTY gene activity increases cancer risk in men.
166 citations
,
September 2011 in “The Journal of Cell Biology” p63 controls Satb1 to help skin develop properly.
1 citations
,
January 1971 in “Acta dermato-venereologica” Mice hair follicles take in the amino acid cystine.
158 citations
,
December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
November 2025 in “Molecular and Cellular Biomedical Sciences” There is no significant link between the MMP-1 rs1799750 polymorphism and androgenetic alopecia in the Indonesian population.
6 citations
,
July 1994 in “Journal of Dermatological Science” Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
15 citations
,
June 2011 in “Journal of Investigative Dermatology” Overexpressing 14-3-3σ in mice skin reduces cell growth and hair density.
11 citations
,
January 1997 in “Journal of Dermatological Science” A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
2 citations
,
July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
1 citations
,
May 2011 in “Molecular Medicine Reports” The study investigated the association between the -866G/A polymorphism in the promoter of the uncoupling protein-2 (UCP2) gene and polycystic ovary syndrome (PCOS), a condition linked to obesity and insulin resistance. The research involved 277 PCOS patients and 152 healthy controls, using genotyping methods to analyze the UCP2 polymorphism. The results indicated no significant association between the -866G/A polymorphism and PCOS, with a P-value of 0.7168, suggesting that this genetic variation did not contribute to the pathogenesis of PCOS.
14 citations
,
February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
9 citations
,
February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
April 2019 in “Journal of the Endocrine Society” Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
4 citations
,
October 2001 in “Mycoses” A young cat had a rare fungal infection caused by Microsporum gypseum.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
62 citations
,
December 2007 in “Journal of biological chemistry/The Journal of biological chemistry” A specific chemical change in the S100A3 protein leads to the formation of a four-part structure important for hair formation.
25 citations
,
June 2017 in “Journal of Investigative Dermatology” HPV8 causes skin cancer by expanding specific skin stem cells.
27 citations
,
February 2003 in “European Journal Of Oral Sciences” SVpgC2a cells show abnormal growth and keratin changes, modeling early cancer development.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
88 citations
,
August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
5 citations
,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
2 citations
,
July 1994 in “Journal of Dermatological Science” Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
11 citations
,
December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
69 citations
,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
52 citations
,
October 2007 in “Molecular Therapy” Injecting lentiviral vectors into early gestation mice effectively targets skin stem cells for potential gene therapy.
141 citations
,
February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.