Gene Mutation Current Events | Gene Mutation News | 2
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New gene discovered for new form of intellectual disability
The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP). view more (2008-04-24)
A new gene for familial cancer was found
A research group at the University of Helsinki, Finland, has found a gene defect that causes hereditary colorectal cancer and defects in dentition. The finding was published online on March 23 in the American Journal of Human Genetics. The groups led by professors Sinikka Pirinen and Irma Thesleff at the Institute of Dentistry and Institute of... view more... (2004-03-26)
Why is Apert's syndrome so common when mutation rate is so low?
Aperts syndrome is a condition caused by a mutation that produces fused fingers and toes, and alters cranial development in affected children. view more (2007-08-28)
Genetic abnormality may increase risk of blood disorders
Researchers at Memorial Sloan-Kettering Cancer Center (MSKCC) have shown for the first time that a tendency to develop some blood disorders may be inherited. view more (2009-03-16)
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)
New clues to amyloidoses ?
Familial amyloid polyneuropathy (FAP), a hereditary disease characterised by abnormal deposits of insoluble protein in the organs, results from a mutation in a single gene (the transthyretin or TTR gene). Nevertheless, disease incidence and age of onset can vary significantly between patients what have always puzzled scientists. Now, in the latest... view more... (2005-02-18)
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)
Gene mutations - possible link to meningitis
Gene mutations may account for a third of all meningococcal meningitis in the UK scientists heard today (Thursday 19 September) at the Society for General Microbiology autumn meeting at Loughborough University. "We have used family studies to calculate that differences in a person`s genetics account for at least one third of the risk of... view more... (2002-08-28)
Neurological disorder in golden retriever dogs caused by a mutation in mitochondrial DNA
Sensory ataxic neuropathy (SAN) is a recently identified neurological disorder in Golden Retriever dogs with onset during puppyhood. view more (2009-05-29)
Poor prognosis linked to BRCA1 mutations - but may be improved by chemotherapy
Breast cancer patients have a lower chance of long-term survival if they carry an inherited mutation in the BRCA1 gene, according to research published in Breast Cancer Research this week. However, the poor prognosis associated with the mutated gene is mitigated by chemotherapy. The breast cancer susceptibility genes, BRCA1 and BRCA2, were... view more... (2003-10-20)
Cambridge led team discovers gene mutation which prevents carriers from feeling pain
Researchers have discovered a gene mutation which prevents the otherwise healthy carriers from sensing pain, after studying three related families with a rare genetic disorder in northern Pakistan. view more (2006-12-14)
Benefit of cancer prevention surgery differs between women with BRCA1 and BRCA2 mutations
The surgical removal of the ovaries has been widely adopted as a cancer-risk-reducing strategy for women with either BRCA1 or BRCA2 mutations. view more (2008-02-12)
UNC study: Scientists identify chemical compound that may stop deadly brain tumors
Researchers at the University of North Carolina at Chapel Hill School of Medicine have identified a compound that could be modified to treat one of the most deadly types of cancer, and discovered how a particular gene mutation contributes to tumor growth. view more (2009-04-10)
The risk factors of abdominal venous thrombosis
Abdominal venous thrombosis may present as BCS or SVT. Hereditary and acquired risk factors have been implicated in the etiopathogenesis of abdominal venous thrombosis view more (2008-10-13)
Toxic Bile Damages the Liver
Researchers at the Heidelberg University Hospital have discovered a new genetic disease that can lead to severe liver damage. Because a protective component of the bile is missing, the liver cells are exposed to the toxic components of the bile, resulting in cirrhosis of liver, a transformation of liver cells into connective tissue with a gradual... view more... (2008-10-27)
Researchers discover gene mutation thought to control energy levels
This study focused on the gene for AMPK (adenosine monophosphate-activated protein kinase), which controls the amount of energy in our cells by becoming active when fuel stores start to deplete, such as during exercise. view more (2007-09-19)
Regulatory T cells require WASp if they are to prevent self-destruction
In humans, mutation of the gene encoding a protein known as WASp leads to susceptibility to infections and systemic autoimmunity. view more (2007-01-12)
Inherited cancer mutation is widespread in America
A gene mutation responsible for the most common form of inherited colon cancer is older and more common than formerly believed, according to a recent study. view more (2008-04-18)
Tool Helps Identify Gene Function in Soybeans, Could Lead to Better Crop Performance, say MU Researchers
In the race for bioengineered crops, sequencing the genome could be considered the first leg in a multi-leg relay. view more (2008-12-02)
Study uncovers mechanism of drug resistance in form of lung cancer
Dana-Farber Cancer Institute researchers and their colleagues have demonstrated that a genetic error so scarce it can't be detected with some standard screening equipment is often responsible for the loss of effectiveness of front-line drugs against non-small cell lung cancer. view more (2006-09-07)
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