UNIVERSITY OF CALIFORNIA – LOS ANGELES HEALTH SCIENCES Researchers at the UCLA Jonsson Comprehensive Cancer Center have confirmed that a large number of genetic variants of unknown significance are in fact verified mutations that predispose patients to a rare hereditary syndrome that increases the risk of kidney cancer. By functionally characterizing the behavior of these mutations, researchers and...
Tag: <span>gene mutations</span>
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Researchers study gene mutations in children with ‘uncombable hair syndrome’
by Bob Yirka, Medical Xpress Credit: Unsplash/CC0 Public Domain A large international team of researchers has conducted a genotypic spectrum analysis for uncombable hair syndrome (UHS) and in so doing has found two pathogenic missense variants in PADI3 that account for the majority of cases. In their paper published in JAMA Dermatology, the group describes how...
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GENE MUTATIONS DRIVE BILE DUCT CANCER
The paper in Cell Reports details the cooperation of two known cancer genes, Arid1a and Kras, and how they disable tumor suppressor activity. When both genes are mutated—particularly Arid1a—the pathways that usually shut down tumor activity cannot perform. The goal is to use the data to find drugs that could restore the normal function of a mutated Arid1a, to...
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Gene mutations from patients with debilitating seizure and movement disorder created in mice
UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE IMAGE: MICE GENETICALLY ENGINEERED TO CARRY MUTATIONS THAT MAKE THE KCNMA1 ION CHANNEL MORE ACTIVE (LEFT) ARE HUNCHED AND IMMOBILIZED AFTER A STRESS TEST WHICH TRIGGERS INVOLUNTARY IMMOBILITY; NORMAL MICE (MIDDLE) SHOW TYPICAL MOUSE BEHAVIOR, AND THOSE WITH A MUTATION CAUSING REDUCED KCNMA1 ION CHANNEL ACTIVITY APPEAR RESTLESS. CREDIT:...
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Fruit fly study uncovers functional significance of gene mutations associated with autism
by Molly Chiu, Baylor College of Medicine Credit: Pixabay/CC0 Public Domain About 1 in 44 children in the U.S. are diagnosed with autism spectrum disorder (ASD) by the age of 8, according to the 2018 Centers for Disease Control and Prevention surveillance. How a child’s DNA contributes to the development of ASD has been more of...