Gene Mutations Current Events | Gene Mutations News | 2
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New links in the cystic fibrosis chain uncover potential therapeutics
Cystic fibrosis (CF) is an inherited disease caused by mutations in the CFTR gene. Each mutation has number of effects on the cells of the lungs. view more (2007-10-19)
Study finds BRAF mutations in colorectal cancer cause resistance to anti-EGFR therapy
European researchers have found that metastatic colorectal cancer patients with a mutation in the BRAF gene do not respond to anti-EGFR therapy with cetuximab and panitumumab. view more (2008-10-23)
Gene discovery may shed light on kidney disease
In a finding that may have broader implications for understanding kidney disorders, genetics researchers at The Children's Hospital of Philadelphia have identified a second gene that gives rise to Alagille syndrome, a genetic developmental disease that affects multiple organs. view more (2006-08-01)
Clues to gene expression in cystic fibrosis will guide research
Genetics tests could help provide cystic fibrosis (CF) patients with targeted treatment in future, pilot study authors suggest. Results from a French clinical trial published today in BMC Medicine show how a small percentage of CF sufferers with a rare genetic stop mutation responded positively to gentamicin treatment. view more (2007-03-29)
Male infertility: Scientists discover candidate gene for impaired spermatogenesis
Lausanne, Switzerland: Researchers in the Netherlands believe they have identified a gene that is involved in causing infertility in men. Dr Judith Gianotten told the European Society of Human Reproduction and Embryology annual meeting in Lausanne today (Wednesday 4 July) that the ZNF214 gene is probably a candidate gene for impaired... view more... (2001-07-03)
Lack of potential mates has lead to "sloppy" gene control and risk of disease for humans
Our evolutionary ancestors' lack of choice in the mating game has left modern humans exposed to disease, according to new research published in the journal PLOS Biology tomorrow (Tuesday 25 January 2005). view more (2005-01-24)
Gene mutation improves leukemia drug's effect
Gene mutations that make cells cancerous can sometimes also make them more sensitive to chemotherapy. A new study led by cancer researchers at Ohio State University shows that a mutation present in some cases of acute leukemia makes the disease more susceptible to high doses of a particular anticancer drug. view more (2008-06-18)
Study questions 'cost of complexity' in evolution
Higher organisms do not have a "cost of complexity" - or slowdown in the evolution of complex traits - according to a report by researchers at Yale and Washington University in Nature. view more (2008-04-01)
Oocyte-specific gene mutations cause premature ovarian failure
Mutations in a gene called FIGLA cause premature ovarian failure in at least a percentage of women who suffer from the disorder, said researchers from Baylor College of Medicine in Houston and Shandong University in China in a report that appears online today in the American Journal of Human Genetics. view more (2008-05-23)
SCIENTISTS TAKE A STEP CLOSER TO UNDERSTANDING BREAST CANCER GENEWorld first for Imperial Cancer Research Fund
Scientists from the Imperial Cancer Research Fund are the first in the world to solve the structure of an important region of a protein molecule made by the XRCC1 gene which has a role in human DNA repair. The same region is also found in the BRCA1 gene which is involved in breast cancer. Their findings now explain why some genetic changes can... view more... (1998-11-03)
Gene mutation may influence age at onset of Parkinson's disease
The number of mutations in a gene previously found to be associated with early-onset Parkinson's disease may influence the age at which the condition develops; even individuals who carry just one mutated copy may be more susceptible to Parkinson's disease. view more (2006-06-13)
Gene chip technology will lead to quick and accurate genetic testing for cystic fibrosis
A single genetic test that is capable of detecting all mutations involved in the development of cystic fibrosis could be just a few years away, the 20th annual conference of the European Society of Human Reproduction and Embryology heard today (Monday 28 June). Researchers at Monash University in Melbourne, Australia, have discovered that recently... view more... (2004-06-28)
How Rett Syndrome mutation targets the brain
Researchers have pinpointed why mutations that cause Rett Syndrome (RTT)-among the leading causes of mental retardation in females-specifically target the brain rather than other body tissues. view more (2006-10-19)
Making Blind Zebrafish See
Scientists in the Conway Institute of Biomolecular & Biomedical Research have restored the sight of blind zebrafish whose eyes failed to develop due to a genetic mutation. The findings, published this week in Developmental Biology, are exciting first steps on a long road to understanding eye diseases in humans. Dr. Breandan Kennedy and his... view more... (2004-07-01)
Researchers propose new ultrasound screening criteria for diagnosing polycystic kidney disease
Modification of the current screening criteria are needed for diagnosing patients with autosomal dominant polycystic disease (ADPKD), according to a study appearing in the January 2009 issue of the Journal of the American Society Nephrology (JASN). The results suggest that some patients with a milder form of the disease may otherwise be... view more... (2008-10-22)
Evolution coup: Study reveals how plants protect their genes
Unlike animals and humans, plants can't run and hide when exposed to stressful environmental conditions. So how do plants survive? view more (2009-09-11)
What are the characteristics of clarithromycin-resistant Helicobacter pylori?
Clarithromycin is currently one of the antibiotics used for eradication of Helicobacter pylori. However, reports of H. pylori resistance to this antibiotic are increasing worldwide. view more (2009-07-16)
High-throughput oncogene mutation detection in human cancers by mass spectrometry-based genotyping
Researchers have devised a new method to detect a spectrum of known gene mutations in a variety of cancer genes that they say is both sensitive and cost-effective. view more (2006-09-14)
MGH Cancer Center researchers find new gene associated with Wilms tumor
Researchers at the Massachusetts General Hospital (MGH) Cancer Center have discovered a novel gene mutation associated with Wilms tumor, the most common pediatric kidney cancer. view more (2007-01-05)
Study reveals why certain ovarian cancers develop resistance to platinum-based chemotherapy
A team of researchers led by Fred Hutchinson Cancer Research Center has identified a new mechanism that explains why some recurrent ovarian tumors become resistant to treatment with commonly used platinum-based chemotherapy drugs such as cisplatin and carboplatin. They describe their research online Feb. 10 in the journal Nature. view more (2008-02-11)
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