May 2004 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Vitamin E affects liver metabolism, enhancing stress resistance, reducing blood clotting, and altering hormone processing.
March 2026 in “Journal of Investigative Dermatology”
November 2022 in “Journal of Investigative Dermatology” Dynlt3 is important for melanosome transport and skin coloration.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
10 citations
,
August 2020 in “Drug metabolism and drug interactions” The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
14 citations
,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
September 1999 in “Molecular Carcinogenesis” Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
8 citations
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October 2012 in “Transgenic Research” Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The study identified key genes and pathways linked to hair disorders, aiding precision medicine.
222 citations
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August 2014 in “Cell Metabolism” Mitochondrial Complex I reduces inflammation and increases bone breakdown by affecting certain immune cells.
26 citations
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June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
153 citations
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June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
1 citations
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January 2008 22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.
1 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Certain genes are linked to the risk of developing Alopecia Areata.
44 citations
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December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
65 citations
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August 2016 in “Metabolic brain disease” Children with autism have lower levels of essential and toxic trace elements in their hair.
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.
2 citations
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February 2025 in “PLoS ONE” Key proteins influence wool quality by affecting hair follicle development in sheep.
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.