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Posts tagged: genetic

Molecular Link Established Between Genetic Defect And Heart Malformation

February 8, 2012
UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called SHP-2 distort the shape of cardiac muscle cells so they are unable to form a fully ...

Parkinson’s disease: Study of live human neurons reveals the disease’s genetic origins

February 7, 2012
Parkinson's disease researchers at the University at Buffalo have discovered how mutations in the parkin gene cause the disease, which afflicts at least 500,000 Americans and for which there is no cure.

Genetic Variant Increases Risk Of Common Type Stroke

February 7, 2012
A genetic variant that increases the risk of a common type of stroke has been identified by scientists in a study published online in Nature Genetics. This is one of the few genetic variants to date to be associated with risk of stroke and the discovery opens up new possibilities ...

More Accurate Diagnosis Of Genetic Mutations Expected Using New Virtual Tool

February 7, 2012
DNA sequencing to detect genetic mutations can aid in the diagnosis and selection of treatment for cancer. Current methods of testing DNA samples, Sanger sequencing and pyrosequencing, occasionally produce complex results that can be difficult or impossible to interpret. Scientists at the Johns Hopkins University School of Medicine have developed ...

Researchers describe genetic basis of endometriosis

February 7, 2012
Researchers at Yale School of Medicine have, for the first time, described the genetic basis of endometriosis, a condition affecting millions of women that is marked by chronic pelvic pain and infertility. The researchers' discovery of a new gene mutation provides hope for new screening methods.

‘ROCK’ off: Study establishes molecular link between genetic defect and heart malformation

February 6, 2012
CHAPEL HILL, N.C. UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called SHP-2 distort the shape of cardiac muscle cells so they are ...

‘ROCK’ off: Study establishes molecular link between genetic defect and heart malformation

February 6, 2012
UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called SHP-2 distort the shape of cardiac muscle cells so they are unable to form a fully ...

New virtual tool may provide more accurate diagnosis of genetic mutations

February 6, 2012
DNA sequencing to detect genetic mutations can aid in the diagnosis and selection of treatment for cancer. Current methods of testing DNA samples, Sanger sequencing and pyrosequencing, occasionally produce complex results that can be difficult or impossible to interpret. Scientists at the Johns Hopkins University School of Medicine have developed ...

Pyromaker can more accurately identify complex genetic mutations

February 6, 2012
DNA sequencing to detect genetic mutations can aid in the diagnosis and selection of treatment for cancer. Current methods of testing DNA samples, Sanger sequencing and pyrosequencing, occasionally produce complex results that can be difficult or impossible to interpret. Scientists at the Johns Hopkins University School of Medicine have developed ...

Scientists identify genetic variant that increases risk of ischemic stroke

February 6, 2012
A genetic variant that increases the risk of a common type of stroke has been identified by scientists in a study published online in Nature Genetics today. This is one of the few genetic variants to date to be associated with risk of stroke and the discovery opens up new ...

New virtual tool may provide more accurate diagnosis of genetic mutations

February 6, 2012
(Elsevier Health Sciences) DNA sequencing to detect genetic mutations can aid in the diagnosis and selection of treatment for cancer. Current methods of testing DNA samples, Sanger sequencing and pyrosequencing, occasionally produce complex results that can be difficult or impossible to interpret. Scientists at the Johns Hopkins University ...

‘ROCK’ off: Study establishes molecular link between genetic defect and heart malformation

February 6, 2012
(University of North Carolina School of Medicine) UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called SHP-2 distort the shape of cardiac muscle cells so ...