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New human syndrome features craniosynostosis, maxillary hyperplasia, delayed tooth eruption, extra teeth

Researchers at the University of Helsinki, Finland, have described a new, recessively inherited human syndrome featuring craniosynostosis, maxillary hyperplasia, delayed tooth eruption and extra teeth. The researchers also identified causative mutations in a gene IL11RA.

8 Jul 2011

Collaborative research discovers broadly acting antibody against influenza viruses

Annually changing flu vaccines with their hit-and-miss effectiveness may soon give way to a single, near-universal flu vaccine, according to a new report from scientists at The Scripps Research Institute and the Dutch biopharmaceutical company Crucell. They describe an antibody that, in animal tests, can prevent or cure infections with a broad variety of influenza viruses, including seasonal and potentially pandemic strains.

8 Jul 2011

ACMG presents new guideline on genetic counseling, testing for AD

When is it appropriate to perform genetic testing for Alzheimer disease, and what information do patients need to understand their risk? The June issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics presents a new practice guideline on genetic counseling and testing for AD.

8 Jul 2011

Researchers identify cellular origin of malignant glioma

Using a mouse genetic system co-developed by researchers at the University of Oregon and Stanford University, a research team led by UO biologist Hui Zong has isolated the cellular origin for malignant glioma, a deadly human brain cancer.

8 Jul 2011

Study illuminates roles of two nearly identical proteins in cancer development

Scripps Research Institute scientists have discovered a basic mechanism that can enable developing cancer cells to sustain abnormal growth. The finding is expected to lead to the targeting of this mechanism with drugs and diagnostic techniques.

7 Jul 2011

TGen presents two key studies at 14th World Conference on Lung Cancer

The Translational Genomics Research Institute (TGen) is presenting two key studies, including one today, at the 14th World Conference on Lung Cancer, July 3-7 in Amsterdam.

7 Jul 2011

Review of non-smoker patient with lung cancer to be presented at IASLC conference

A first-of-its-kind study of a patient with lung cancer who never smoked will be presented today by TGen and the Virginia G. Piper Cancer Center at Scottsdale Healthcare at the 14th World Conference on Lung Cancer, July 3-7 in Amsterdam.

6 Jul 2011

Scientists discover three unexpected RNAs involved in diabetes cell-death pathway

Excess nutrients, such as fat and sugar, don't just pack on the pounds but can push some cells in the body over the brink. Unable to tolerate this "toxic" environment, these cells commit suicide.

6 Jul 2011

Never smokers' lung adenocarcinomas show greater genome instability

Lung adenocarcinomas in people who have never smoked show greater genome instability than those in smokers, supporting the theory that lung cancer in never smokers arises through different pathways, according to research presented at the 14th World Conference on Lung Cancer in Amsterdam, hosted by the International Association for the Study of Lung Cancer.

5 Jul 2011

PET imaging technique may identify TKI-responsive lung cancer

A non-invasive PET imaging technique may identify lung cancers that respond best to tyrosine kinase inhibitors (TKIs), allowing doctors to better select patients for personalized therapy, according to research presented at the 14th World Conference on Lung Cancer in Amsterdam, hosted by the International Association for the Study of Lung Cancer.

5 Jul 2011

LCMC finds 9.6% of lung cancer patients with ALK rearrangement

ALK rearrangement has been found in 9.6% of lung cancer patients tested in the Lung Cancer Mutation Consortium, and MET amplification in another 4.1%, reflecting how many patients might benefit from targeted therapies such as crizotinib, according to research presented at the 14th World Conference on Lung Cancer in Amsterdam, hosted by the International Association for the Study of Lung Cancer.

5 Jul 2011

Erlotinib phase III study results on lung cancer presented at IASLC conference

In the first phase III study to include Western lung cancer patients, first-line treatment with erlotinib (Tarceva) nearly doubled progression-free survival compared with chemotherapy, according to research presented at the 14th World Conference on Lung Cancer in Amsterdam, hosted by the International Association for the Study of Lung Cancer.

5 Jul 2011

Fruit flies with poor posture help scientists understand human intellectual disability

Clumsy fruit flies with poor posture are helping an international team of scientists understand inherited intellectual disability in humans - and vice versa.

5 Jul 2011

Shared environment influences susceptibility to autism more than previously thought

The largest and most rigorous twin study of its kind to date has found that shared environment influences susceptibility to autism more than previously thought.

5 Jul 2011

Women can have successful pregnancy after recurrent miscarriage

In a subset of the ALIFE study, which investigated the effect of aspirin alone or combined with low-molecular-weight heparin, compared to placebo, on the live birth rate in women with unexplained RM, the researchers looked at the length of time between the moment of randomisation to the moment of the first day of last menstruation before the subsequent pregnancy.

4 Jul 2011

Amyloid peptide Aβ43 may serve as biomarker for diagnosis of Alzheimer's

Researchers at the RIKEN Brain Science Institute (BSI) and their collaborators have shed light on the function of a little-studied amyloid peptide in promoting Alzheimer's disease.

4 Jul 2011

Virus-tested sweetpotato foundation seeds proven to increase yields

Sweetpotato is gaining popularity in the United States, where health-conscious consumers have created increased demand for the tasty, versatile food. According to the U.S. Department of Agriculture, per capita consumption of the crop increased over 24% from 1998-2008 and the value of the U.S. sweetpotato crop in 2009 exceeded $400 million.

2 Jul 2011

Scientists use statistical approach to assess order of genetic abnormalities in cancers

Zeroing in on the early cell mutations that enable a cancer to grow is one of the best ways to find a personalized therapy to stop it. Scientists were able to use a statistical approach for the first time to map out the order in which these abnormalities form to analyze the pattern of DNA changes in advanced skin and ovarian tumors.

2 Jul 2011

U-M researchers a step closer to developing treatments for aging and chronic diseases

As our bodies first form, developing cells are a lot like children put on the school bus with their names and addresses pinned to their shirts. The notes identify one as a future heart cell, another as a liver cell, a third as a neuron. And that's what they each grow up to be. But once those cells reach adulthood, changes to those original marching orders caused by aging, disease and other stressors like smoking can precipitate a kind of identity crisis, researchers at the University of Michigan Health System have found.

2 Jul 2011

Small molecule treatment holds promise for Usher syndrome

New treatment approach shall soon be ready for use in Usher syndrome patients / Publication in "Human Gene Therapy".

1 Jul 2011

Mutation News and Research

New human syndrome features craniosynostosis, maxillary hyperplasia, delayed tooth eruption, extra teeth

Collaborative research discovers broadly acting antibody against influenza viruses

ACMG presents new guideline on genetic counseling, testing for AD

Researchers identify cellular origin of malignant glioma

Study illuminates roles of two nearly identical proteins in cancer development

TGen presents two key studies at 14th World Conference on Lung Cancer

Review of non-smoker patient with lung cancer to be presented at IASLC conference

Scientists discover three unexpected RNAs involved in diabetes cell-death pathway

Never smokers' lung adenocarcinomas show greater genome instability

PET imaging technique may identify TKI-responsive lung cancer

LCMC finds 9.6% of lung cancer patients with ALK rearrangement

Erlotinib phase III study results on lung cancer presented at IASLC conference

Fruit flies with poor posture help scientists understand human intellectual disability

Shared environment influences susceptibility to autism more than previously thought

Women can have successful pregnancy after recurrent miscarriage

Amyloid peptide Aβ43 may serve as biomarker for diagnosis of Alzheimer's

Virus-tested sweetpotato foundation seeds proven to increase yields

Scientists use statistical approach to assess order of genetic abnormalities in cancers

U-M researchers a step closer to developing treatments for aging and chronic diseases

Small molecule treatment holds promise for Usher syndrome

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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