18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
February 2009 in “Journal of The American Academy of Dermatology” Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
47 citations
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August 2016 in “American Journal Of Pathology” Fibroblast changes in systemic sclerosis may help understand disease severity and treatment.
Digit ratio likely doesn't predict male hair loss.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.
49 citations
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June 2019 in “eLife” Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
April 2018 in “Journal of Investigative Dermatology” Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
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.
48 citations
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May 2019 in “Genome Biology” Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
May 2025 in “Experimental Dermatology” A new genetic tool improves the study of hair growth and potential hair disorder treatments.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
115 citations
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March 2019 in “Nature Communications” Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found markers indicating that cells responsible for hair color are differentiating in specific areas of the hair follicle.
22 citations
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May 2007 in “Molecular Biotechnology”
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
1 citations
,
July 2023 in “Journal of Animal Science and Biotechnology” The SOSTDC1 gene is crucial for determining sheep wool type.
April 2005 in “Journal of Investigative Dermatology” Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
40 citations
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December 2010 in “Human Genetics”
3 citations
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January 2022 in “Journal of Infection” Some early COVID-19 mutations in patients predicted future common virus mutations.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
141 citations
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February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
44 citations
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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.
27 citations
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April 2011 in “International journal of legal medicine” In situ DNA labeling in hair can help predict forensic DNA analysis success.
5 citations
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September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.