April 2019 in “Journal of Investigative Dermatology” Merkel cell carcinoma is most likely to recur within two years of diagnosis, and factors like immune suppression, being over 75, and male sex increase this risk.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
52 citations
,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
9 citations
,
June 2023 in “Human Genomics” MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.
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.
9 citations
,
January 2015 in “Medical hypotheses” TCDD disrupts skin stem cells, causing skin issues like chloracne.
7 citations
,
May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
34 citations
,
May 2001 in “Endocrinology” Mrp3 helps in wound healing and hair growth.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
11 citations
,
January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
5 citations
,
August 2019 in “iScience” Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
88 citations
,
August 2014 in “PLOS genetics” Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
3 citations
,
April 2023 in “Veterinary sciences” Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
3 citations
,
January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
4 citations
,
February 2023 in “International Journal of Stem Cells” The FTO gene hinders stem cells in hair follicles from becoming pigment cells.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
10 citations
,
December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
20 citations
,
January 2017 in “Experimental Dermatology” Igf1r helps regulate hair growth cycles.
41 citations
,
December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.