Mutations in the hairless protein gene cause hair loss.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
109 citations
,
June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
3 citations
,
June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Researchers made a detailed map of gene activity for different parts of human hair follicles to help create targeted hair disorder treatments.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
10 citations
,
May 2007 in “Oncology Reports” Colorectal cancer's ability to spread is due to changes in many genes, not just one.
3 citations
,
October 2019 in “EMBO molecular medicine” Targeting NCoR1 can help treat heart enlargement and dysfunction.
12 citations
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December 2003 in “Gene” The ovine Hoxc-13 gene is crucial for hair formation and may have other skin functions.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
74 citations
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October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
36 citations
,
March 2011 in “Stem Cell Reviews and Reports”
26 citations
,
September 2020 in “Journal of the European Academy of Dermatology and Venereology” A certain genetic variant in the androgen receptor may predict the severity of COVID-19 in men.
3 citations
,
February 2023 in “Journal of Investigative Dermatology” Ch55 may help reduce skin scarring and fibrosis.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
9 citations
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April 1999 in “Mammalian Genome” Acidic keratin genes are on CFA9 and basic keratin genes are on CFA27 in dogs.
40 citations
,
December 2010 in “Human Genetics” 2 citations
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December 2024 in “Gene Reports” Higher IL-37 levels are linked to more severe alopecia areata, but the gene variation doesn't affect disease risk.
16 citations
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August 2022 in “Nature Communications” ROR2 is essential for hair follicle stem cell renewal and maintenance.
April 2023 in “Journal of Investigative Dermatology” IL-17 plays a key role in severe hair loss in chronic alopecia areata.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
January 2006 in “Chinese Journal of Dermatology” Shorter GGC triplet repeats in the androgen receptor gene are linked to less hair loss in Han men.