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.
67 citations
,
December 1990 in “The journal of cell biology/The Journal of cell biology” Researchers found genes for cysteine-rich proteins that form the protective layer of hair in humans and sheep.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
MITF and WNT3A are key in Dun Mongolian horse pigmentation.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
7 citations
,
October 2018 in “BMC genomics” Key genes can rewire networks, changing skin appendage types.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Ezh2 controls skin development by balancing signals for dermal and epidermal growth.
9 citations
,
March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
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.
35 citations
,
August 2009 in “Differentiation” Desmoglein 4 is controlled by specific proteins that affect hair growth.
11 citations
,
January 2018 in “Acta dermato-venereologica” Researchers found specific genes in the part of hair follicles that could help treat hair disorders.
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.
97 citations
,
March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
November 2023 in “npj regenerative medicine” Skin spheroids with both outer and inner layers are key for regrowing skin patterns and hair.
14 citations
,
February 2008 in “Stem Cells and Development” Seven genes are highly expressed in both germ-line and hematopoietic stem cells.
4 citations
,
October 2018 in “Cell Stem Cell” Hox genes control hair growth patterns in mammals by regulating stem cell activity in the skin.
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.
12 citations
,
December 2003 in “Gene” The ovine Hoxc-13 gene is crucial for hair formation and may have other skin functions.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
19 citations
,
January 2015 in “Development” Hoxc8 gene helps start mammary gland development by controlling specific signals.
10 citations
,
June 2022 in “Development” Gene regulation evolved differently in mouse and chicken skin, but remained stable in their trunks.
9 citations
,
July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
30 citations
,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.