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Common genetic polymorphisms can increase risk of autism spectrum disorders

The causes of autism and autism spectrum disorder (ASD) are complex, and contain elements of both nature (genes) and the environment. New research published in BioMed Central's open access journal Molecular Autism shows that common genetic polymorphisms (genetic variation) can add up to an increased risk of ASD.

15 Oct 2012

Genetic basis of uterine fibroids uncovered

A mutation located near the fatty acid synthase gene is associated with an increased predisposition for uterine leiomyomata or fibroids, suggest US study findings.

8 Oct 2012

NFKB1 gene variant may reduce risk of lung cancer

A variant in a gene involved with inflammation and the immune response is linked with a decreased risk of lung cancer. That is the finding of an analysis published early online in CANCER, a peer-reviewed journal of the American Cancer Society. The results add to the growing body of literature implicating these processes in the development of lung cancer.

8 Oct 2012

Researchers discover 8 new loci associated with susceptibility to atopic dermatitis

Researchers at the RIKEN Center for Genomic Medicine (CGM) and their colleagues have identified 8 new loci associated with susceptibility to atopic dermatitis in the Japanese population.

8 Oct 2012

Progress toward preventing initial and recurrent episodes of C. diff infection

Surgeons are making progress toward preventing initial and recurrent episodes of clostridium difficile colitis (C. difficile or C. diff), a vicious bacterial infection that is estimated to affect about 336,000 people each year, typically patients on antibiotics.

6 Oct 2012

New spontaneous genetic mutations play a significant role in schizophrenia

Columbia University Medical Center (CUMC) researchers have identified dozens of new spontaneous genetic mutations that play a significant role in the development of schizophrenia, adding to the growing list of genetic variants that can contribute to the disease.

4 Oct 2012

Genetic profile predicts postradiation erectile dysfunction

Scientists have identified a group of genetic markers that can predict the risk for erectile dysfunction after radiotherapy for prostate cancer.

1 Oct 2012

People with SIRT1 genetic variation more likely to develop vibration-induced white finger disease

Vibration-induced white finger disease (VWF) is caused by continued use of vibrating hand held machinery (high frequency vibration >50 Hz), and affects tens of thousands of people. New research published in BioMed Central's open access journal Clinical Epigenetics finds that people with a genetic polymorphism (A2191G) in sirtuin1 (SIRT1), a protein involved in the regulation of endothelial NOS (eNOS), are more likely to suffer from vibration-induced white finger disease.

1 Oct 2012

Scientists discover 12 genetic markers for ED in prostate cancer patients after radiotherapy

In the first study of its kind, a research team led by Mount Sinai School of Medicine and Albert Einstein College of Medicine of Yeshiva University discovered 12 genetic markers associated with the development of erectile dysfunction (ED) in prostate cancer patients who were treated with radiation.

27 Sep 2012

Genome-wide epigenomic screening can pinpoint thyroid disease-associated variants

Genome-wide epigenomic screening can pinpoint disease-associated variants and identify novel genetic-epigenetic interactions in autoimmune thyroid diseases, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.

24 Sep 2012

BGI Tech achieves whole exome sequencing analysis of total degraded DNA from FFPE samples

BGI Tech Solutions Co., Ltd., a subsidiary company of BGI, announced today that they have achieved whole exome sequencing analysis of total degraded DNA as low as 200 ng from formalin fixed paraffin embedded (FFPE) samples.

19 Sep 2012

Mitochondrial variations unlikely cause of osteoarthritis

Researchers have been unable to confirm a link between the development of osteoarthritis and maternally inherited mitochondrial DNA variants.

17 Sep 2012

Study discovers pathways that govern instability of GAA/TTC repeats

A study of more than 6,000 genes in a common species of yeast has identified the pathways that govern the instability of GAA/TTC repeats. In humans, the expansions of these repeats is known to inactivate a gene - FXN - which leads to Friedreich's ataxia, a neurodegenerative disease that is currently incurable. In yeast, long repeats also destabilize the genome, manifested by the breakage of chromosomes.

11 Sep 2012

Sifting through the junk with ENCODE

The first large-scale results from the ENCylopedia Of DNA Elements Consortium have shed light on possible functions of large areas of the genome previously thought of as “junk DNA.”

10 Sep 2012

Researchers identify genetic variations linked with onset of Barrett's oesophagus

Genetic variations that are linked with the onset of Barrett's oesophagus (BE), a pre-cancerous condition of the lower end of the gullet, have been identified for the first time. The discovery of variations in regions on two chromosomes makes it possible to develop screening tests for people at high risk of developing the disease.

10 Sep 2012

Study sheds new light on why most bone marrow transplant patients suffer acute GVHD

A team of scientists led by a bone marrow transplant researcher at Fred Hutchinson Cancer Research Center has shed new light on why most bone marrow transplant patients who receive tissue-matched cells from unrelated donors still suffer acute graft-versus-host disease (GVHD).

6 Sep 2012

Medivir strengthens hepatitis C platform

Medivir AB, announced today that it has acquired preclinical research stage assets from Novadex Pharmaceuticals AB. The acquisition includes intellectual property and prodrug technologies in order to further strengthen Medivir's hepatitis C platform and know how.

5 Sep 2012

Researchers identify several genetic factors linked to C-reactive protein

African Americans have higher blood levels of a protein associated with increased heart-disease risk than European Americans, despite higher "good" HDL cholesterol and lower "bad" triglyceride levels. This contradictory observation now may be explained, in part, by a genetic variant identified in the first large-scale, genome-wide association study of this protein involving 12,000 African American and Hispanic American women.

31 Aug 2012

Glaucoma and cell death: an interview with Dr. Vivek Gupta

Glaucoma is normally caused by increased pressure of aqueous humour fluid in the eye. A defining feature of this disease is destruction of a particular type of cells in the retina called retinal ganglion cells and excavation of the optic disc region.

31 Aug 2012

Dabigatran exposure may RE-LY on genetics

Researchers have found that variants in the ABCB1 and CES1 genes are associated with increased dabigatran plasma levels in patients taking the oral anticoagulant.

30 Aug 2012