147 citations
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April 1997 in “Oncogene” Overexpressing IGF-1 in mice leads to skin abnormalities and tumors.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
412 citations
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January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
6 citations
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March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
136 citations
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March 1998 in “Oncogene” Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
77 citations
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January 1980 in “Carcinogenesis” TPA is about 50 times more effective at promoting tumors than MZ.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
October 2023 in “BMC endocrine disorders” A pineal tumor caused a boy's early puberty, which changed from peripheral to central after treatment.
December 2004 in “SUNScholar (Stellenbosch University)” Certain genetic markers can indicate a person's risk of developing prostate cancer.
September 2024 in “Journal of the American Academy of Dermatology”
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The protein p21 is more abundant in normal skin cells than in melanoma cells and may help protect against melanoma, with UVB light affecting its levels.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
17 citations
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May 2011 in “Gene Therapy” Using polyethylenimine-DNA to deliver the hTERT gene can stimulate hair growth and may be useful in treating hair loss, but there could be potential cancer risks.
Ribonucleotide excision repair is crucial to prevent skin cancer.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
3 citations
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July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
January 2013 in “Faculty of Health; Institute of Health and Biomedical Innovation” Four genetic risk areas related to male-pattern baldness were identified, with WNT signaling playing a role in its development.
Defective nuclear transport may cause gene expression changes in Progeria.
5 citations
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
November 2022 in “Journal of Investigative Dermatology” Rare genetic variants in 125 genes are linked to male-pattern hair loss.
July 2012 in “European journal of cancer” MPA increases cancer spread by boosting Eph A2 activity.
5 citations
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March 2005 in “Journal of The American Academy of Dermatology”
5 citations
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May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.