Recent research from Michigan Medicine takes aim at the a variant in gene SCN1B, which causes a severe form of developmental epileptic encephalopathy.
A team led by University of Pittsburgh School of Public Health geneticists has shown, for the first time, that a gene "silencer" that resides in junk DNA is directly sparing people from a devastating ...
Researchers at Washington University School of Medicine in St. Louis have conducted a longitudinal study on an individual ...
What is Zollinger-Ellison syndrome? Zollinger-Ellison syndrome (ZES) is a rare digestive disorder. If you have ZES, you likely have 1 or more tumors in the first part of the small intestine, the ...
To search for mutations, we designed overlapping primer pairs to amplify the complete ORNT1 ORF in overlapping segments. We generated first strand cDNA with primers DV3459 (antisense, 5 ...
Gene mutation in diabetic patients with lung adenocarcinoma: a real-world retrospective cohort study
Purpose: The incidence of lung cancer is closely associated with diabetes; however, it remains unclear whether diabetes influences the genetic mutations present in lung cancer. Therefore, we will ...
Their findings, published in Nature Aging, describe a never-before-seen link between the two most accepted explanations: random genetic mutations and predictable epigenetic modifications.
Summary: A new study has uncovered a direct link between somatic mutations and epigenetic modifications, challenging established views on aging. Researchers found that random genetic mutations drive ...
Results from 4 healthy controls (WT; 1-4), 1 patient with Activating p110 Delta Syndrome 2 (APDS2) due to the p85α Δexon11 variant, and 3 patients with PIK3CA-Related Overgrowth Spectrum (PROS) caused ...
Health authorities and researchers are closely examining the mutations found in the virus extracted from the 65-year-old man, who was infected through contact with backyard birds contaminated by ...
Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause ... including fragile X syndrome and myotonic dystrophy, are caused by expansions of ...
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