9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
99 citations
,
July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
28 citations
,
March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
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.
10 citations
,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
February 2026 in “Pediatric Dermatology” 4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
2 citations
,
April 2018 in “Journal of Investigative Dermatology” Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.
1 citations
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May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
44 citations
,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
114 citations
,
July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
January 2004 in “Chinese Journal of Dermatology” Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
29 citations
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January 2010 in “Methods in Enzymology” The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
76 citations
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April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.