Mutations – Newsemia

NF1 glioblastoma clonal profiling reveals KMT2B mutations as potential somatic oncogenic events

NewsemiaDecember 10, 2019

by NewsemiaDecember 10, 201900

Although glioblastoma (GBM) is a common malignant brain tumor in older adults in the general population, the incidence of GBM is increased in the neurofibromatosis...

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Rutgers researchers identify small mutations for AML and MDS through deep DNA sequencing

NewsemiaDecember 10, 2019

by NewsemiaDecember 10, 201900

Deep DNA sequencing analysis conducted by Rutgers Cancer Institute of New Jersey investigators examining genomic differences within tumors for prediction of disease relapse in certain...

Cardiology

Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.

NewsemiaDecember 7, 2019

by NewsemiaDecember 7, 201900

Related Articles Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia. Atherosclerosis. 2019 Nov 29;292:143-151 Authors: Lamiquiz-Moneo I, Restrepo-CÃ³rdoba MA, Mateo-Gallego...

Biology

Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity

NewsemiaDecember 4, 2019

by NewsemiaDecember 4, 201900

Niemann-Pick type C1 (NPC1) protein is essential for the transport of externally derived cholesterol from lysosomes to other organelles. Deficiency of NPC1 underlies the progressive...

Neurology

Autism-related genetic mutations occur in aging brains of Alzheimer’s patients

NewsemiaNovember 27, 2019

by NewsemiaNovember 27, 201900

Genomic autism-related ADNP mutations were found in postmortem olfactory bulbs and hippocampi of Alzheimer’s patients. Source link...

Neurology

How common are single gene mutations as a cause for lacunar stroke?: A targeted gene panel study

NewsemiaNovember 27, 2019

by NewsemiaNovember 27, 201900

Objectives To determine the frequency of rare and pertinent disease-causing variants in small vessel disease (SVD)-associated genes (such as NOTCH3, HTRA1, COL4A1, COL4A2, FOXC1, TREX1,...

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Researchers discover new mutations in gene associated with disease that causes the heart to weaken

NewsemiaNovember 17, 2019

by NewsemiaNovember 17, 201900

Researchers from the Intermountain Healthcare Heart Institute in Salt Lake City have identified new mutations in a gene commonly associated with non-ischemic dilated cardiomyopathy (NIDC),...

Pharma / Biotech

FDA Clears First Next-Gen Sequencing Test for HIV-1 Drug Resistance Mutations

NewsemiaNovember 13, 2019

by NewsemiaNovember 13, 201900

It is the first and only HIV-1 genotyping next-gen sequencing technology authorized for marketing in the United States Source link...

Neurology

Transcriptomic networks implicate neuronal energetic abnormalities in three mouse models harboring autism and schizophrenia-associated mutations

NewsemiaNovember 8, 2019

by NewsemiaNovember 8, 201900

Transcriptomic networks implicate neuronal energetic abnormalities in three mouse models harboring autism and schizophrenia-associated mutations Source link...

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Chemotherapy can cause drug-resistant mutations in pediatric ALL patients who relapse

NewsemiaNovember 4, 2019

by NewsemiaNovember 4, 201900

Chemotherapy has helped make the most common childhood cancer one of the most curable, but researchers have evidence that the treatment may also prime some...

Neurology

Relationships between DMD mutations and neurodevelopment in dystrophinopathy

NewsemiaOctober 22, 2019

by NewsemiaOctober 22, 201900

Objective We performed a prospective, cross-sectional analysis of neurodevelopmental concerns and psychosocial adjustment in relation to DMD mutations in young steroid-naive boys with dystrophinopathy. Methods...

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Vertex Announces Reimbursement of Cystic Fibrosis Medicines SYMDEKO® (tezacaftor/ivacaftor and ivacaftor) for Eligible Patients Ages 12 and Older, and ORKAMBI® (lumacaftor/ivacaftor) in Children Ages 2 to 5, With Certain CFTR Mutations in Australia

NewsemiaOctober 20, 2019

by NewsemiaOctober 20, 201900

LONDON–(BUSINESS WIRE)–Vertex announced reimbursement of SYMDEKO for eligible patients ages 12 and older, and ORKAMBI for children ages 2 to 5 in Australia. Source link...

Pediatrics

Subtle Mitochondrial DNA Mutations Alter Expression of Nuclear Genes, with Profound Clinical Effects

NewsemiaOctober 16, 2019

by NewsemiaOctober 16, 201900

Subtle changes in the DNA of mitochondria, the tiny power plants in cells, can have profound consequences for a patient’s health. Research on biological mechanisms...

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Higher levels of genetic mutations linked to improved outcomes in lung cancer patients

NewsemiaSeptember 28, 2019

by NewsemiaSeptember 28, 201900

According to new findings by Yale Cancer Center scientists, higher levels of genetic mutations in a tumor biopsy are linked to improved clinical outcomes in...

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Researchers perform thousands of mutations to understand amyotrophic lateral sclerosis

NewsemiaSeptember 23, 2019

by NewsemiaSeptember 23, 201900

Amyotrophic lateral sclerosis (ALS) is a devastating and incurable nervous system disease that affects nerve cells in the brain and spinal cord, causing loss of...

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Patients with metastatic colorectal cancer harboring certain BRAF mutations may respond to anti-EGFR

NewsemiaSeptember 12, 2019

by NewsemiaSeptember 12, 201900

Patients with metastatic colorectal cancer harboring a subset of non-V600 mutations in the BRAF gene, known as class 3 BRAF mutations, were more likely to...

Biology

Limits to Compensatory Mutations: Insights from Temperature-Sensitive Alleles

NewsemiaSeptember 10, 2019

by NewsemiaSeptember 10, 201900

Abstract Previous experiments with temperature-sensitive mutants of the yeast enzyme orotidine 5′-phosphate decarboxylase (encoded in gene URA3) yielded the unexpected result that reversion occurs only...

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Researchers identify mutations associated with treatment sensitivity, resistance in NSCLC

NewsemiaSeptember 9, 2019

by NewsemiaSeptember 9, 201900

BARCELONA —STK11 and KEAP1 mutations appeared associated with poorer outcomes among patients with metastatic non-small cell lung cancer regardless of treatment with chemotherapy or immunotherapy,...

Gastroenterology

Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations

NewsemiaSeptember 7, 2019

by NewsemiaSeptember 7, 201900

Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations Source link...

Gastroenterology

Comprehensive characterization of RAS mutations in colon and rectal cancers in old and young patients

NewsemiaAugust 24, 2019

by NewsemiaAugust 24, 201900

Comprehensive characterization of RAS mutations in colon and rectal cancers in old and young patients Source link...