Gene Mutations Current Events | Gene Mutations News | 10
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Researchers identify gene causing rare form of cleft palate
The identification of a gene that causes a rare form of the congenital defect, cleft palate, may offer an important insight into human development and the mechanisms involved in the condition. Researchers led by Dr Philip Stanier from Imperial College have found that the sex-linked form of cleft palate (CPX) and an associated form of the disorder... view more... (2001-09-14)
Standing up to paraplegia with gene therapy
Elena Rugarli and colleagues from the National Neurological Institute in Milan have used gene therapy to save sensory and skeletal muscle nerve fibers from degeneration in mice with hereditary spastic paraplegia (HSP). view more (2005-12-16)
Mutant gene causes severe kidney disease in infants
Scientists at the University of Michigan Medical School have discovered a previously unknown cause for a severe, early-onset form of kidney disease and renal failure in children: recessive mutations in a gene called phospholipase C epsilon or PLCE1. view more (2006-11-06)
Columbia geneticists uncover new gene involved in determining hair texture and density in humans
A Columbia University Medical Center research team has discovered a new gene involved in determining hair texture in humans. view more (2008-02-26)
MRI Superior to Mammography for Screening Women at High Risk for Breast Cancer
Magnetic resonance imaging (MRI) of the breast is significantly more sensitive than mammography and ultrasound for diagnosing familial breast cancer, according to researchers at Germany's University of Bonn. view more (2003-06-12)
Low HDL cholesterol from gene variation not associated with increased risk of ischemic heart disease
Lower levels of high-density lipoprotein (HDL) cholesterol due to a gene mutation is not associated with an increased risk of ischemic heart disease, according to a study in the June 4 issue of JAMA. view more (2008-06-04)
THE VALUE OF CYSTIC FIBROSIS SCREENING (p 789)
Research published in this week's issue of THE LANCET concludes that screening babies for cystic fibrosis provides the opportunity for more reliable prenatal diagnosis of the disease. The value of screening for the currently incurable disease cystic fibrosis has been the subject of debate over the past few years. Virginie Scotet and colleagues... view more... (2000-08-30)
Not just humans benefit from animal biotechnology
Laboratory animals are the source of major discoveries and breakthroughs in biology, not just in tackling disease but also unravelling fundamental molecular processes. Delegates at a recent research conference organised by the European Science Foundation (ESF) and Wellcome Trust heard how technology capable of analysing animal genes across the... view more... (2007-10-25)
Enzyme defect leads to hyperinsulinism
A recent study in the Journal of Biological Chemistry confirms that mutations in an enzyme called glutamate dehydrogenase can cause congenital hyperinsulinism. view more (2006-05-25)
Worth a thousand words: Hopkins researchers paint picture of cancer-promoting culprit
They say that a picture can be worth a thousand words. This especially is true for describing the structures of molecules that function to promote cancer. Researchers at Johns Hopkins have built a three-dimensional picture of an enzyme often mutated in many types of cancers. view more (2008-01-07)
New strategy rapidly identifies cancer targets
In a step toward personalized medicine, Howard Hughes Medical Institute investigator Brian J. Druker and colleagues have developed a new technique to identify previously unknown genetic mutations that can trigger cancerous growth. view more (2006-07-17)
New study warns against linking ethnic identity to breast cancer genes
Genetic research over the past decade has linked Ashkenazi Jewish ethnicity to an increased risk for hereditary breast cancer, so much so that certain gene mutations have become known as "Jewish ancestral mutations." view more (2006-10-27)
Association between famine and schizophrenia may yield clues about inherited diseases and conditions
The higher risk of schizophrenia among offspring of expectant mothers living through famine could help us understand the genetic basis for that debilitating mental disorder. view more (2006-08-02)
Cold Spring Harbor Laboratory Scientists Devise Potential Approach To Treat Spinal Muscular Atrophy
In the neuromuscular disease called spinal muscular atrophy, or SMA, a protein deficiency caused by a single gene mutation leads to serious damage in growing nerve cells and the muscles they control. view more (2008-04-07)
In some cases, genetic resistance takes on a life of its own
For those concerned with the troublesome effects of genetic resistance to drugs and pesticides, the conventional wisdom of evolution offers a reassuring word. view more (2005-08-09)
U-M researchers discover new genes that fuse in cancer
Using new technologies that make it easier to sequence the human genome, researchers at the University of Michigan Comprehensive Cancer Center have identified a series of genes that become fused when their chromosomes trade places with each other. view more (2009-01-12)
Rare genetic mutations protect against hypertension
Howard Hughes Medical Institute (HHMI) researchers have found that rare mutations in three genes contribute to blood pressure variation in the general population. view more (2008-04-07)
Tiny, spontaneous gene mutations may boost autism risk
Tiny gene mutations, each individually rare, pose more risk for autism than had been previously thought, suggests a study funded in part by the National Institute of Mental Health, a component of the National Institutes of Health. view more (2007-03-16)
Evolution in action: Our antibodies take 'evolutionary leaps' to fight microbes
With cold and flu season in full swing, the fact that viruses and bacteria rapidly evolve is apparent with every sneeze, sniffle, and cough. A new report in the January 2009 issue of The FASEB Journal, explains for the first time how humans keep up with microbes by rearranging the genes that make antibodies to foreign invaders. This research fills... view more... (2009-01-06)
New findings offer more complete view of breast cancer gene mutations in US population
A large study funded by the National Institutes of Health today provided the clearest picture yet of the prevalence in the U.S. population of mutations in two genes associated with an increased risk of breast cancer. view more (2006-08-16)
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