18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
23 citations
,
January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
2 citations
,
December 2022 in “Pharmaceutics” The enzyme pyruvate kinase M2 helps hair regrowth and could be a potential treatment for hair loss.
September 2025 in “Arthritis Research & Therapy” BMS-470539 reduces skin fibrosis and inflammation.
Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
14 citations
,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
December 2011 in “University of Southern California Digital Library” High BMP signaling disrupts hair growth and balance in skin cells.
57 citations
,
January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
4 citations
,
December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
321 citations
,
January 2012 in “Cell stem cell” TGF-β2 helps activate hair follicle stem cells by counteracting BMP signals.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
28 citations
,
November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
January 2026 in “Biochemical Pharmacology” November 2025 in “Journal of Investigative Dermatology” PCFCL may have unrecognized subtypes and needs more research.
24 citations
,
May 2022 in “Frontiers in Endocrinology” Activating brown fat may help manage PCOS symptoms.
4 citations
,
December 2024 in “European Journal of Medicinal Chemistry” New pyrazole-based inhibitors show promise for treating metabolic diseases and other conditions.
6 citations
,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
June 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 represses root hair formation by inhibiting a specific gene.
February 2026 in “International Journal of Molecular Sciences” New biological pathways and potential treatment targets for male pattern baldness were identified.
November 2024 in “Journal of Investigative Dermatology” Bimekizumab quickly improves psoriasis symptoms and skin at the molecular level.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
Pygo2 is important for early growth and progression of intestinal tumors, and could be a target for treating cancers with certain mutations.
60 citations
,
September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
253 citations
,
April 2009 in “Journal of Biological Chemistry” p2y5, now called LPA6, is a receptor important for human hair growth.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.