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Your search for “Mutations” returned 422 results

Precision Medicine Identifies Key Recurring Mutation in Head and Neck Cancers

Researchers at UC San Diego School of Medicine and Moores Cancer Center report that an investigational drug candidate called tipifarnib showed promise in treating key recurring mutation in head and neck cancers.

A World Without Color – Researchers Find Gene Mutation That Strips Color, Reduces Vision

…Diego Health System have identified a previously unknown gene mutation that underlies this disorder.

NBT: Intro video of ‘Control-independent mosaic single nucleotide variant detection with DeepMosaic’

In this scientific presentation, UC San Diego researchers describe using machine learning to train an artificial neural network to spot tiny mutations in genetic sequences better and faster than human eyes.

Iron Buildup in Brain Linked to Higher Risk for Movement Disorders

UC San Diego researchers report that individuals with two copies of a gene mutation show evidence of substantial iron buildup in regions of the brain, raising risk for movement disorders like Parkinson’s disease.

Single Gene Mutation Linked to Diverse Neurological Disorders

…California, San Diego School of Medicine, says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimer’s, Parkinson’s and Huntington’s diseases.

Potential Nutritional Therapy for Childhood Neurodegenerative Disease

…San Diego School of Medicine have identified the gene mutation responsible for a particularly severe form of pontocerebellar hypoplasia, a currently incurable neurodegenerative disease affecting children. Based on results in cultured cells, they are hopeful that a nutritional supplement may one day be able to prevent or reverse the condition.

Researchers Find Fertility Genes Required for Sperm Stem Cells

…testes in mice. The investigators also linked RHOX gene mutations to male infertility in humans.

Dysfunction in Neuronal Transport Mechanism Linked to Alzheimer’s Disease

…California San Diego School of Medicine have confirmed that mutation-caused dysfunction in a process cells use to transport molecules within the cell plays a previously suspected but underappreciated role in promoting the heritable form of Alzheimer’s disease (AD), but also one that might be remedied with existing therapeutic enzyme inhibitors.

UC San Diego’s Bioengineering Team Uses TSCC at SDSC for Bioinformatics Tool

Over 18 million people worldwide are annually diagnosed with cancer, with each case hiding many mutations in its genome. Understanding these mutations furthers cancer research, while also providing a deeper understanding to create possible cures, therapies and prevention strategies.

Gene Mutation Found for Aggressive Form of Pancreatic Cancer

Researchers at the University of California, San Diego School of Medicine have identified a mutated gene common to adenosquamous carcinoma (ASC) tumors – the first known unique molecular signature for this rare, but particularly virulent, form of pancreatic cancer.