10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
2 citations
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May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
Defective nuclear transport may cause gene expression changes in Progeria.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
60 citations
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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.
23 citations
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January 2014 in “International Journal of Biological Sciences” African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
2 citations
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July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
13 citations
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November 2018 in “Animal Genetics” A new gene variant causes curly coats in some dog breeds.
42 citations
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July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
27 citations
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November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
303 citations
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October 2000 in “Nature” RXRα is crucial for hair growth and skin cell function.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
July 2025 in “Journal of Investigative Dermatology”