139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
77 citations
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April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
9 citations
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
30 citations
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August 2010 in “American Journal of Clinical Dermatology” Cetuximab can cause eyelash growth, which is rare but manageable.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
February 2017 in “Cancer Causes & Control” Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
28 citations
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October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
April 2018 in “Journal of Investigative Dermatology” Finasteride helps female-pattern hair loss.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
10 citations
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February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
8 citations
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April 2018 in “Journal of the European Academy of Dermatology and Venereology” Certain genetic variations can make people more likely to experience hair loss and low white blood cell count from azathioprine.
76 citations
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June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
75 citations
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September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
June 2025 in “British Journal of Dermatology” Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
20 citations
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July 2005 in “Experimental dermatology” The fuzzy gene is crucial for controlling hair growth cycles.
14 citations
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July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
21 citations
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January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
6 citations
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December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
15 citations
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January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
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.
10 citations
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May 2007 in “Oncology Reports” Colorectal cancer's ability to spread is due to changes in many genes, not just one.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
103 citations
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.