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Your search for “DNA Mutations” returned 153 results

Overlooked ‘Housekeeping’ Gene Plays Unexpected Role in Seizures

August 26, 2020

Molecules known as tRNAs are often overlooked in study of disease processes. Researchers have now found that a mutation in a tRNA gene called n-Tr20—expressed only in the brain—can disrupt the landscape of entire cells, leading to chain reactions that alter brain function and behavior.

GIST Tumors Linked to NF1 Mutations, Genetic Testing Needed

August 18, 2017

…a high frequency of gastrointestinal stromal tumors (GISTs) with mutations of the NF1 gene.

Breaking Bad: How Shattered Chromosomes Make Cancer Cells Drug-Resistant

December 23, 2020

UC San Diego and Ludwig Cancer Research scientists describe how a phenomenon known as “chromothripsis” breaks up chromosomes, which then reassemble in ways that ultimately promote cancer cell growth.

Finding Keys to Glioblastoma Therapeutic Resistance

August 25, 2014

…to drug therapy. The answer lies not in the DNA sequence of the tumor, but in its epigenetic signature. These findings have been published online as a priority report in the journal Oncotarget.

Hard to Study Mutations Implicated in the Expression of Genes Associated with Schizophrenia and More

November 5, 2019

Hard-to-study mutations in the human genome, called short tandem repeats, known as STRs or microsatellites, are implicated in the expression of genes associated with complex traits including schizophrenia, inflammatory bowel disease and even height and intelligence.

Using CRISPR to Reverse Retinitis Pigmentosa and Restore Visual Function

April 21, 2017

…San Diego Health, with colleagues in China, have reprogrammed mutated rod photoreceptors to become functioning cone photoreceptors, reversing cellular degeneration and restoring visual function in two mouse models of retinitis pigmentosa.

Genomic Study Revealing Among Diverse Populations with Inherited Retinal Disease

October 19, 2021

An international team of researchers has broadened and deepened understanding of how inherited retinal dystrophies (IRDs) affect different populations of people and, in the process, have identified new gene variants that may cause the diseases.

Researchers Engineer Bacteria That Can Detect Tumor DNA

August 10, 2023

Creating new technologically advanced sensors, scientists from UC San Diego and Australia have engineered bacteria that detect the presence of tumor DNA in live organisms. Their innovation could pave the way to new biosensors capable of identifying various infections, cancers and other diseases.

Evolutionary Stalling: Researchers Explore the Boundaries of Natural Selection

August 18, 2020

What are the boundaries of natural selection? Research published in PNAS shows that even natural selection has a tough time optimizing performance simultaneously across multiple components of the cell. They call the concept “evolutionary stalling.”

Locking Down the Big Bang of Immune Cells

September 21, 2017

…that ignored pieces of DNA play a critical role in the development of immune cells called T cells. These areas activate a change in the 3D structure of DNA that brings together crucial elements necessary for T cell formation. This “big bang” discovery may be unfolding throughout the animal and…

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