Navigation Links
Study finds new genes that cause Baraitser-Winter syndrome, a brain malformation
Date:2/29/2012

SEATTLE -- Scientists from Seattle Children's Research Institute and the University of Washington, in collaboration with the Genomic Disorders Group Nijmegen in the Netherlands, have identified two new genes that cause Baraitser-Winter syndrome, a rare brain malformation that is characterized by droopy eyelids and intellectual disabilities.

"This new discovery brings the total number of genes identified with this type of brain defect to eight," said William Dobyns, MD, a geneticist at Seattle Children's Research Institute. Identification of the additional genes associated with the syndrome make it possible for researchers to learn more about brain development. The study, "De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome," was published online February 26 in Nature Genetics.

The brain defect found in Baraitser-Winter syndrome is a smooth brain malformation or "lissencephaly," as whole or parts of the surface of the brain appear smooth in scans of patients with the disorder. Previous studies by Dr. Dobyns and other scientists identified six genes that cause the smooth brain malformation, accounting for approximately 80% of affected children. Physicians and researchers worldwide have identified to date approximately 20 individuals with Baraitser-Winter syndrome.

While the condition is rare, Dr. Dobyns said the team's findings have broad scientific implications. "Actins, or the proteins encoded by the ACTB and ACTG1 genes, are among the most important proteins in the function of individual cells," he said. "Actins are critical for cell division, cell movement, internal movement of cellular components, cell-to-cell contact, signaling and cell shape," said Dr. Dobyns, who is also a University of Washington professor of pediatrics. "The defects we found occur in the only two actin genes that are expressed in most cells," he said. Gene expression is akin to a "menu" for conditions like embry
'/>"/>

Contact: Mary Guiden
mary.guiden@seattlechildrens.org
206-987-7334
Seattle Children's
Source:Eurekalert

Page: 1 2

Related medicine news :

1. Despite Treatment, Employees with Depression Generate Higher Absentee Costs, According to Thomson Reuters Study
2. American Council on Exercise (ACE) Study Reveals Kettlebells Provide Powerful Workout in Short Amount of Time
3. TV drama can be more persuasive than news program, study finds
4. Study carried out into biological risks of eating reptiles
5. Neuroimaging study may pave way for effective Alzheimers treatments
6. Study finds racial gaps continue in heart disease awareness
7. Luth Researchs IndicatorEDG(TM) Study Finds Americans Hopes of Achieving Their Dreams Are Fading
8. First blinded study of venous insufficiency prevalence in MS shows promising results
9. Soothing infants with food focus of childhood obesity study
10. People with anxiety disorder less able to regulate response to negative emotions, study shows
11. American Heart Association Rapid Access Journal Report: Study Finds Racial Gaps Continue in Heart Disease Awareness, Low Knowledge of Heart Attack Warning Signs Among Women
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/22/2014)... With the Affordable Care Act (ACA) open ... American Institutes for Research (AIR) finds that three out of ... insurance, but 42 percent say they are not likely or ... up for coverage. , The AIR survey found wide gaps ... to calculate correctly how much they owe for a routine ...
(Date:10/22/2014)... Losing Weight Your Body’s Way , In a ... the face, it certainly can be difficult to choose the ... extra favor by doing it the healthy way? Set aside ... to your body, exercise regularly, and choose foods with the ... weight; you need to exercise more and eat less. Despite ...
(Date:10/22/2014)... Akeso Biomedical, Inc. , a ... of bacterial infections, microbial biofilms, and chronic wounds, announced ... of directors. , Dr. Sinskey is ... Massachusetts Institute of Technology, or MIT. He has been ... Sinskey also holds positions as Co-Director of the Malaysia-MIT ...
(Date:10/22/2014)... Haelle HealthDay Reporter , TUESDAY, ... adult men may lead to increased blood pressure, according to ... similar rise in blood pressure for young adult women or ... adult women drank lightly or moderately, their risk of high ... "This finding parallels studies in older adult men and women," ...
(Date:10/22/2014)... Dennis Thompson HealthDay Reporter ... who was diagnosed with Ebola while working for NBC News ... can leave the special isolation unit at Nebraska Medical Center in ... the hospital said Tuesday. A blood test confirmed by the ... 33, can head home to Providence, R.I., NBC News ...
Breaking Medicine News(10 mins):Health News:Many Americans Fail to Ask Basic Questions Before Signing Up for Health Insurance, National Survey Finds 2Health News:Many Americans Fail to Ask Basic Questions Before Signing Up for Health Insurance, National Survey Finds 3Health News:Many Americans Fail to Ask Basic Questions Before Signing Up for Health Insurance, National Survey Finds 4Health News:ReductionGuruMD Presents Ways to Improve Your Weight Loss Results 2Health News:Akeso Biomedical Appoints Dr. Anthony J. Sinskey to Board of Directors 2Health News:Binge Drinking May Boost Blood Pressure in Young Men 2Health News:Binge Drinking May Boost Blood Pressure in Young Men 3Health News:Binge Drinking May Boost Blood Pressure in Young Men 4Health News:U.S. Cameraman Treated for Ebola 'Free' of the Virus 2Health News:U.S. Cameraman Treated for Ebola 'Free' of the Virus 3
... the American Physical Society,s (APS) Division of Fluid Dynamics ... across the physical sciences, engineering, and medicine. Topics include: ... quirks of flying; why coffee spills; and how rain ... The meeting will take place November 20-22, 2011, ...
... experience more chronic musculoskeletal pain, suggests a new study led ... women over the age of 18 were surveyed on their ... the analysis were fibromyalgia, sciatica, chronic neck pain, chronic back ... all over the body. Results showed that women who ...
... a medical device company publicly traded on the Tel-Aviv ... Journal of Heart Failure, a peer reviewed medical ... results of a 72-patients, randomized, controlled study which demonstrated ... home setting can significantly relieve symptoms of heart failure ...
... an advance toward a much-needed early diagnostic test for Alzheimer,s ... develop AD have high blood levels of a protein linked ... ACS, Journal of Proteome Research. Theo Luider ... already have AD, and the numbers are rising with the ...
... at Johns Hopkins have modified HIV in a way that ... Their work, they say in a report published online September ... major hurdle in HIV vaccine development and lead to new ... immune response, rather than triggering it, making it a tough ...
... 28 (HealthDay News) -- Just like extremely premature babies, infants ... lung function at ages 8 to 9, but in these ... they are teenagers, research shows. "There has been a ... birth can have on the lung function of children, but ...
Cached Medicine News:Health News:APS Division of Fluid Dynamics meeting: Highlights and media registration 2Health News:APS Division of Fluid Dynamics meeting: Highlights and media registration 3Health News:APS Division of Fluid Dynamics meeting: Highlights and media registration 4Health News:APS Division of Fluid Dynamics meeting: Highlights and media registration 5Health News:Study shows link between smoking and chronic pain in women 2Health News:European Journal of Heart Failure publishes new randomized controlled clinical study of RESPeRATE 2Health News:Hide-and-seek: Altered HIV can't evade immune system 2Health News:Lung Function of Late Preemies May Improve With Age 2
(Date:10/22/2014)... , Oct. 22, 2014  AcelRx Pharmaceuticals, Inc. ... results from the  IAP310 study have been published ... a peer-reviewed journal with broad, multidisciplinary readership. ... evaluating the safety and efficacy of Zalviso, also ... (SSTS), for the treatment of post-operative pain in ...
(Date:10/22/2014)... SHANGHAI , Oct. 22, 2014 /PRNewswire/ ... FMI ) and WuXi PharmaTech (Cayman) Inc. (NYSE: ... Foundation Medicine,s comprehensive genomic profiling to biopharmaceutical companies conducting ... Under the terms of the collaboration, Foundation ... laboratory component of Foundation Medicine,s FoundationOne® assay at the ...
(Date:10/20/2014)... Oct. 20, 2014  Indianapolis interventional medical device ... Toronto -based 3D visualization leader Synaptive ... Neurological Surgeons Annual Meeting that they have joined ... surgery. The collaboration is the first of its ... improve patient outcomes. NICO,s BrainPath® interventional access technology ...
Breaking Medicine Technology:AcelRx Announces Publication of Zalviso Phase 3 Abdominal Trial Results 2Foundation Medicine and WuXi PharmaTech Announce Strategic Collaboration to Offer Best-in-Class Comprehensive Genomic Profiling in China 2Foundation Medicine and WuXi PharmaTech Announce Strategic Collaboration to Offer Best-in-Class Comprehensive Genomic Profiling in China 3Foundation Medicine and WuXi PharmaTech Announce Strategic Collaboration to Offer Best-in-Class Comprehensive Genomic Profiling in China 4Foundation Medicine and WuXi PharmaTech Announce Strategic Collaboration to Offer Best-in-Class Comprehensive Genomic Profiling in China 5Indianapolis' NICO Corporation and Toronto's Synaptive Medical, Inc. Announce First-Ever Intervention-Visualization Partnership with Goal to Improve Standard of Care in Neurosurgery 2Indianapolis' NICO Corporation and Toronto's Synaptive Medical, Inc. Announce First-Ever Intervention-Visualization Partnership with Goal to Improve Standard of Care in Neurosurgery 3Indianapolis' NICO Corporation and Toronto's Synaptive Medical, Inc. Announce First-Ever Intervention-Visualization Partnership with Goal to Improve Standard of Care in Neurosurgery 4Indianapolis' NICO Corporation and Toronto's Synaptive Medical, Inc. Announce First-Ever Intervention-Visualization Partnership with Goal to Improve Standard of Care in Neurosurgery 5
... Helmer Platelet Agitators feature ... with non-slip texture coating ... circulation for your platelets. ... to be used in ...
... Helmer platelet agitators offer a wide range ... allow the drawer storage platform to agitate ... which wear down and squeak. Sturdy, one-piece ... uniform air circulation for your platelets., ,i.Series ...
Platelet agitator....
Platelet agitator....
Medicine Products: