January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
28 citations
,
October 2014 in “Development” Fz3 and Fz6 can partially replace each other in tissue polarity and axon guidance.
April 2017 in “The FASEB Journal” Eating more vitamin A changes hair growth-related proteins in mice, affecting hair cycle stages.
1 citations
,
July 1991 in “PubMed” MRI can show unusual brain changes in adrenomyeloneuropathy.
18 citations
,
July 2016 in “Genetica” BMP4 gene is crucial for hair follicle development in Liaoning cashmere goats.
1 citations
,
September 2023 in “Genes” DNA methylation likely doesn't cause different lambskin patterns in Hu sheep.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” GATA6 is important for maintaining and differentiating cells in a key area of human skin.
72 citations
,
June 2001 in “Journal of Investigative Dermatology” S100A4 and S100A6 proteins may activate stem cells for hair follicle regeneration and could be potential targets for hair loss treatments.
23 citations
,
August 1975 in “Experimental Biology and Medicine” Copper supplements during pregnancy improve survival and development in mutant mice.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
10 citations
,
January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
4 citations
,
February 2016 in “Clinical Pharmacology & Therapeutics” Hair follicle samples effectively show how well the drug MK-0752 targets and engages with the Notch pathway.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
2 citations
,
August 2020 in “CRC Press eBooks” Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
12 citations
,
March 2004 in “Journal of Investigative Dermatology”
5 citations
,
September 2011 in “Cell stem cell” Epigenetic changes are crucial for hair follicle stem cells to function properly.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
October 2024 in “SPIRE - Sciences Po Institutional REpository” Glypicans help hair follicle stem cells differentiate by interacting with specific receptors, influencing hair growth.
9 citations
,
November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
12 citations
,
October 1996 in “Dermatologic clinics” Advances in genetics may lead to targeted treatments for hair disorders.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
14 citations
,
June 2012 in “Stem Cells” TACE/ADAM17 is essential for maintaining healthy hair and hair follicle stem cells.
25 citations
,
May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
September 2025 in “Cosmetics” NMN supplements may improve hair quality and appearance in middle-aged women.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.