13 citations
,
January 2021 in “Scientific Reports” Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
7 citations
,
December 1970 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” 287 citations
,
July 2001 in “Journal of Cell Science” The study found 65 intermediate filament genes, including new keratins, and suggested updating keratin naming.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
January 2008 in “Journal of Clinical Dermatology” Integrin alpha-6 and p63 proteins may play a role in hair loss and are important for hair growth and maintenance.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
53 citations
,
March 2003 in “Journal of Investigative Dermatology” Human skin cells have a high-affinity system for biotin transport, crucial for skin health.
175 citations
,
August 1997 in “Nature Genetics” 20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
January 1999 in “Journal of Investigative Dermatology” 99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
November 2022 in “Journal of Investigative Dermatology” A new tool helps study hair follicle cells to develop better treatments for hair disorders.
71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” DORN1 receptor affects eATP-induced stomatal changes but not eADP in Arabidopsis thaliana.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
4 citations
,
August 2018 in “Journal of cellular biochemistry” Acid inside cells speeds up aging and turns on aging signs in mice.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
August 2001 in “The Journal of Cell Biology” A new keratin gene was found in mice, explaining hair growth.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
April 2026 in “Cellular and Molecular Immunology” SPT6 prevents excessive skin inflammation by blocking a feedback loop.
9 citations
,
June 2017 in “Pharmacological Reports” ATP-sensitive potassium channels play a role in chloroquine-induced itch in mice.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
46 citations
,
June 2013 in “Journal of structural biology” High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
44 citations
,
May 1997 in “Journal of Biological Chemistry” The human keratin 6a gene's specific sequences trigger expression in skin layers after injury.
30 citations
,
October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
32 citations
,
February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
1 citations
,
May 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.