July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
8 citations
,
March 2020 in “Frontiers in Cell and Developmental Biology” Researchers created immortal human skin cells with constant testosterone receptor activity to study hair loss and test treatments.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
63 citations
,
April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
2 citations
,
July 1994 in “Journal of Dermatological Science” Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.
September 2023 in “British Journal of Dermatology” Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
4 citations
,
February 2023 in “International Journal of Stem Cells” The FTO gene hinders stem cells in hair follicles from becoming pigment cells.
42 citations
,
January 2014 in “BMC Genomics” Cetaceans lost hair genes to adapt to water.
1 citations
,
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
May 2023 in “Skin research and technology” A DNA aptamer helps promote hair growth by enhancing a key cell growth signal in hair follicle cells.
88 citations
,
June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
DNA methylation affects BMP7 gene expression, influencing cell growth in Hu sheep.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
1 citations
,
June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
36 citations
,
October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
6 citations
,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
16 citations
,
October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
12 citations
,
December 2016 in “The FASEB Journal” Lack of vitamin D receptor causes hair loss in mice by allowing certain genes to overactivate.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
13 citations
,
June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
3 citations
,
March 2023 in “Annals of the New York Academy of Sciences” Mutations in claudin-1 and claudin-3 cause hair loss in baby mice.
42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
Suppressing ODC activity reduces tumor growth in hair follicles.
7 citations
,
January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
1 citations
,
January 2018 in “Acta dermato-venereologica” A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
22 citations
,
December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.