September 2017 in “Journal of Investigative Dermatology” Hair follicle cells change their DNA packaging during growth cycles and when grown in the lab.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
39 citations
,
January 2016 in “PubMed” Understanding how EDC genes are regulated can help develop better drugs for skin diseases.
27 citations
,
February 2020 in “EMBO Reports” MEX3A is crucial for maintaining intestinal stem cells in mice.
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.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
13 citations
,
March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
10 citations
,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Krox20 is important for maintaining stem cells in the skin and affects hair growth and color.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
2 citations
,
May 1979 in “PubMed” Monilethrix is not caused by a metabolic defect.
46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
1 citations
,
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
16 citations
,
June 1983 in “Journal of Neurochemistry” Copper therapy improved health and enzyme activity in mice with copper deficiency.
January 2025 in “Frontiers in Cell and Developmental Biology” Hox proteins help maintain keratinocyte identity by regulating miRNA expression.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
3 citations
,
March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
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.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
January 2018 in “Indian Dermatology Online Journal” DM and AA may share a common cause.
December 2022 in “Journal of neurodevelopmental disorders” Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
10 citations
,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
94 citations
,
July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
136 citations
,
March 1998 in “Oncogene” Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
48 citations
,
June 2000 in “Japanese Journal of Cancer Research” Dimethylarsinic acid speeds up skin tumor growth in certain mice.
3 citations
,
May 2025 in “Journal of Ovarian Research” m6A deregulation plays a key role in PCOS and could lead to new treatments.
1 citations
,
October 2023 in “BMC Genomics” miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.