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News tagged with mutations

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Calcium-binding protein mutations found in heart rhythm disorders

A team led by Vanderbilt University investigators has discovered two new genes – both coding for the signaling protein calmodulin – associated with severe early-onset disorders of heart rhythm. The findings, reported ...

Cardiology created Feb 06, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Researchers discover enzyme behind breast cancer mutations

Researchers at the University of Minnesota have uncovered a human enzyme responsible for causing DNA mutations found in the majority of breast cancers. The discovery of this enzyme – called APOBEC3B – may change the way ...

Cancer created Feb 06, 2013 | popularity 4.5 / 5 (2) | comments 1 | with audio podcast

Air pollution primes children for asthma-related cockroach allergy

An allergic reaction to cockroaches is a major contributor to asthma in urban children, but new research suggests that the insects are just one part of a more complex story. Very early exposure to certain components of air ...

Immunology created Feb 06, 2013 | popularity 5 / 5 (1) | comments 0

Study finds potential to match tumors with known cancer drugs

When it comes to gene sequencing and personalized medicine for cancer, spotting an aberrant kinase is a home run. The proteins are relatively easy to target with drugs and plenty of kinase inhibitors already exist.

Cancer created Feb 05, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Zebrafish reveals central regulator for development of brain histamine system

Research has shown that mutations in the psen1 gene are common in the familial forms of Alzheimer's disease, and the Presenilin-1 protein that the gene encodes is known to be involved in the cleavage of the amyloid precursor ...

Neuroscience created Feb 05, 2013 | popularity not rated yet | comments 0

Mutations in ASXL3 cause problems similar to Bohring-Opitz syndrome

Mutations which affect the gene ASXL3 cause a novel syndrome similar to Bohring-Opitz syndrome, finds a study published in BioMed Central's open access journal Genome Medicine. This molecular definition distinguishes these ...

Genetics created Feb 04, 2013 | popularity 5 / 5 (1) | comments 0

Some cancer mutations slow tumor growth

A typical cancer cell has thousands of mutations scattered throughout its genome and hundreds of mutated genes. However, only a handful of those genes, known as drivers, are responsible for cancerous traits ...

Cancer created Feb 04, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

AB blood type strong risk factor for venous blood clots

The non-O ABO blood type is the most important risk factor for venous thromboembolism (blood clots in veins), making up 20% of attributable risk for the condition, according to a new study in CMAJ (Canadian Medical Associati ...

Diseases, Conditions, Syndromes created Feb 04, 2013 | popularity not rated yet | comments 0 | with audio podcast

Scientists investigate inherited causes of autism

Autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric conditions. Yet, most genetic links to ASD found in recent years have involved de novo mutations, which are not passed from parent to child, ...

Genetics created Feb 04, 2013 | popularity not rated yet | comments 0

Examining the so-called Basque mutation of Parkinson's

The relationship between genetics and Parkinson's has been investigated for more than a decade, but it is only over the last few years that significant results have begun to be obtained. The first mutations related to the ...

Parkinson's & Movement disorders created Feb 01, 2013 | popularity not rated yet | comments 0

Genome-wide atlas of gene enhancers in the brain online

Future research into the underlying causes of neurological disorders such as autism, epilepsy and schizophrenia, should greatly benefit from a first-of-its-kind atlas of gene-enhancers in the cerebrum (telencephalon). ...

Genetics created Jan 31, 2013 | popularity 4.6 / 5 (5) | comments 0 | with audio podcast

A new mechanism that contributes to the evolution of cancer

Cancer arises from the accumulation of mutations and structural changes in chromosomes, which in some cases give rise to combinations that favour the growth or expansion of the disease. In this context, chromosomes tend to ...

Cancer created Jan 31, 2013 | popularity 5 / 5 (1) | comments 0

Sirtuin protein discovery opens door to potential 'molecular fountain of youth'

A new study led by researchers at the University of California, Berkeley, represents a major advance in the understanding of the molecular mechanisms behind aging while providing new hope for the development of targeted treatments ...

Medical research created Jan 31, 2013 | popularity 4.9 / 5 (17) | comments 6 | with audio podcast

One of the key circuits in regulating genes involved in producing blood stem cells is deciphered

Researchers from the group on stem cells and cancer at IMIM (Hospital del Mar Medical Research Institute) have deciphered one of the gene regulation circuits which would make it possible to generate hematopoietic blood cells, ...

Genetics created Jan 31, 2013 | popularity 5 / 5 (1) | comments 0

Researchers generate mutant mouse model useful in treatment of neuromuscular diseases

Researchers at the University of Granada have produced for the first time in the world mice lacking the coenzyme Q10, a rare mitochondrial disease prevailingly affecting children. The researchers needed three ...

Genetics created Jan 29, 2013 | popularity not rated yet | comments 0