Mutation News and Research

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Certain food and lifestyle habits can turn on or off expression of cancer related genes

Research performed at the Center of Research and Advanced Studies (Cinvestav) has identified that certain food and lifestyle habits can turn on or off the expression of cancer related genes.

21 Oct 2013

Hereditary high blood cholesterol overlooked and untreated worldwide

Hereditary high blood cholesterol leads to premature heart disease. It is overlooked and untreated virtually worldwide -- including in Europe. This is a major problem as the disease is dangerous for health. However, this disease is easy to diagnose and treat, according to the conclusion of a consensus report from the European Atherosclerosis Society.

21 Oct 2013

Genetic mutation found to restore translational balance in mice

In a biological quirk that promises to provide researchers with a new approach for studying and potentially treating Fragile X syndrome, scientists at the University of Massachusetts Medical School (UMMS) have shown that knocking out a gene important for messenger RNA (mRNA) translation in neurons restores memory deficits and reduces behavioral symptoms in a mouse model of a prevalent human neurological disease.

21 Oct 2013

New small-molecule inhibitor shows promising results in drug-resistant melanoma, breast cancer

LEE011, a small-molecule inhibitor of cyclin-dependent kinases (CDK) 4/6 being developed by Novartis Oncology, showed promising results in drug-resistant melanoma and drug-resistant breast cancer when tested in combination with other targeted therapies, and based on these preclinical results, several phase I clinical trials were launched recently, according to results presented here at the AACR-NCI-EORTC International Conference on Molecular Targets and Cancer Therapeutics, held October 19-23.

21 Oct 2013

Study finds inherited GATA3 gene variation increases risk of developing pediatric leukemia

Research led by St. Jude Children's Research Hospital scientists has linked an inherited gene variation to a nearly four-fold increased risk of developing a pediatric acute lymphoblastic leukemia (ALL) subtype that is associated with a poor outcome.

21 Oct 2013

Study: Pds5 proteins modulate behavior of cohesins to ensure proper division of cells

Cohesins are protein complexes that join the two copies of each chromosome-called sister chromatids-to ensure that they are shared fairly between the daughter cells during cell division. In this way, each daughter cell receives exactly the same genetic information from the parent cell.

19 Oct 2013

Five Research Units established to uncover physiological basis for cognitive processes, cultural techniques

The Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) is establishing five new Research Units. This was decided by the DFG Senate at its October meeting. The purpose of the research collaborations is to offer researchers the possibility to pursue current, pressing issues in their subject areas and to establish innovative work directions.

19 Oct 2013

RNA-based gene expression test potentially determine presence or absence of BRAF V600E mutation

Veracyte, Inc., a molecular diagnostics company pioneering the field of molecular cytology, today announced preliminary study results suggesting the potential for an RNA-based gene expression test to accurately detect the BRAF V600E gene mutation in thyroid nodule fine needle aspiration (FNA) samples.

19 Oct 2013

Research: Hypermutation in cancer is more frequent in inactive X chromosome

Every case of cancer originates from changes in a person's genetic material (mutations). These usually occur as "somatic mutations" in individual cells during an individual's lifetime, rather than being inherited from a person's parents.

19 Oct 2013

Study shows how two miRNAs regulate FOXP2 gene implicated in speech, language impairments

A study led by Xiaoching Li, PhD, at the LSU Health Sciences Center New Orleans Neuroscience Center of Excellence, has shown for the first time how two tiny molecules regulate a gene implicated in speech and language impairments as well as autism disorders, and that social context of vocal behavior governs their function.

18 Oct 2013

HBV-infected men more likely to develop liver cancer

A team of researchers has identified a novel mutation in the hepatitis B virus (HBV) in Korea that appears only in men and could help explain why HBV-infected men are roughly five times more likely than HBV-infected women to develop liver cancer.

18 Oct 2013

Researchers identify novel gene mutation that causes common variable immunodeficiency

A 30-year-old woman with a history of upper respiratory infections had no idea she carried an immunodeficiency disorder - until her 6-year-old son was diagnosed with the same illness.

18 Oct 2013

Jain Foundation Steps Up Efforts To Find Cure For Muscular Dystrophy

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17 Oct 2013

Scientists identify recessive gene mutation that reduces certain protein affecting brain development

Though worlds apart, four unrelated families have been united in a medical mystery over the source of a rare inherited disorder that results in their children being born with abnormal brain growth and severe functional impairments.

17 Oct 2013

BRAF inhibitor vemurafenib effective for patients with papillary thyroid cancer

Mutations in a gene that codes for the enzyme BRAF kinase have been associated with increased risk for papillary thyroid cancer. An early-stage clinical trial of the BRAF inhibitor vemurafenib resulted in either a partial response or stable disease in patients with PTC and BRAF mutations.

17 Oct 2013

Scientists uncover faulty brain mechanism that may underlie schizophrenia in humans

Working with mice genetically engineered to display symptoms of schizophrenia, neuroscientists at the RIKEN-MIT Center for Neural Circuit Genetics at the Picower Institute for Learning and Memory at MIT have uncovered a faulty brain mechanism that may underlie schizophrenia and other psychiatric disorders in humans.

17 Oct 2013

Scientists identify 127 mutated genes that appear to drive development of tumors in the body

Examining 12 major types of cancer, scientists at Washington University School of Medicine in St. Louis have identified 127 repeatedly mutated genes that appear to drive the development and progression of a range of tumors in the body. The discovery sets the stage for devising new diagnostic tools and more personalized cancer treatments.

17 Oct 2013

Researchers discover why women with BRCA gene develop breast and ovarian cancer

Researchers announced today in the journal Lancet Oncology that they are well on the way to discovering why women with the faulty genes BRCA 1 and BRCA 2, one of which was inherited by the actress Angelina Jolie, develop breast and ovarian cancer rather than other cancers.

17 Oct 2013

Jain Foundation Steps Up Efforts To Find Cure For Muscular Dystrophy

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16 Oct 2013

Trovagene launches pharmaceutical alliance to monitor lung cancer patients' EGFR mutational status

Trovagene, Inc., a developer of cell-free molecular diagnostics, today announced that it will collaborate with a pharmaceutical company to evaluate Trovagene's proprietary, urine-based, cell-free DNA technology for the detection of certain epidermal growth factor receptor mutations associated with lung cancer.

16 Oct 2013

Mutation News and Research

Certain food and lifestyle habits can turn on or off expression of cancer related genes

Hereditary high blood cholesterol overlooked and untreated worldwide

Genetic mutation found to restore translational balance in mice

New small-molecule inhibitor shows promising results in drug-resistant melanoma, breast cancer

Study finds inherited GATA3 gene variation increases risk of developing pediatric leukemia

Study: Pds5 proteins modulate behavior of cohesins to ensure proper division of cells

Five Research Units established to uncover physiological basis for cognitive processes, cultural techniques

RNA-based gene expression test potentially determine presence or absence of BRAF V600E mutation

Research: Hypermutation in cancer is more frequent in inactive X chromosome

Study shows how two miRNAs regulate FOXP2 gene implicated in speech, language impairments

HBV-infected men more likely to develop liver cancer

Researchers identify novel gene mutation that causes common variable immunodeficiency

Jain Foundation Steps Up Efforts To Find Cure For Muscular Dystrophy

Scientists identify recessive gene mutation that reduces certain protein affecting brain development

BRAF inhibitor vemurafenib effective for patients with papillary thyroid cancer

Scientists uncover faulty brain mechanism that may underlie schizophrenia in humans

Scientists identify 127 mutated genes that appear to drive development of tumors in the body

Researchers discover why women with BRCA gene develop breast and ovarian cancer

Jain Foundation Steps Up Efforts To Find Cure For Muscular Dystrophy

Trovagene launches pharmaceutical alliance to monitor lung cancer patients' EGFR mutational status

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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