Navigation Links
Study Uncovers Mutation Responsible for Noonan Syndrome

Scientists have discovered that mutations in a gene known as SOS1 account for many cases of Noonan syndrome (NS), a common childhood genetic //disorder which occurs in one in 1,000-2,500 live births. NS is characterized by short stature, facial abnormalities, and learning disabilities, as well as heart problems and predisposition to leukemia.

Led by researchers at Harvard Medical School-Partners Healthcare Center for Genetics and Genomics (HPCGG) and Beth Israel Deaconess Medical Center (BIDMC), the findings are reported in the December issue of Nature Genetics, which appears on-line today.

'Noonan syndrome is the most common single gene cause of congenital heart disease,' explains co-senior author Benjamin Neel, MD, PhD, Director of the Division of Cancer Biology at BIDMC and professor of medicine at Harvard Medical School (HMS).

'Although previous work had identified mutations in the PTPN11 gene as the cause of Noonan syndrome in nearly 50 percent of cases [and mutations in an oncogene known as KRAS in a small subset of severe cases] the identity of the gene or genes responsible for fully half the cases had not been elucidated,' Neel said.

To identify candidate genes, a group led by HMS instructor Amy Roberts, MD, and director of HPCGG Raju Kucherlapati, PhD, conducted genetic analysis of over 100 children with Noonan syndrome. This large cohort of NS patients had neither PTPN11 nor KRAS mutations.

'From this group, we identified SOS1 mutations in approximately 20 percent of the cases,' explains Kucherlapati, the Paul C. Cabot professor of genetics at HMS. After modeling the positions of the mutations on crystal structures of SOS1, the scientists made recombinant versions of the mutants and expressed them in mammalian cells, where it was discovered that they promoted excessive activation of RAS and its downstream target, MAP kinase, the same pathway activated by PTPN11 mutations.

'These results
'"/>




Page: 1 2

Related medicine news :

1. Tomato Sauce reduces Cancer Risk- Study
2. Study on obesity and heart failure
3. National Lung Study in the process
4. Study casts doubt on keyboard ills
5. Study reveals how stress can make you sick
6. Study reveals how stress can make you sick
7. Study supports vegetable diet
8. Study to look at early surgery to treat epilepsy
9. Its Never Too Late to Stop Smoking,Study Finds
10. New Technique to Study Infants Brain.
11. Groundbreaking Study Gives Hope For Patients With Kidney Cancer
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Study Uncovers Mutation Responsible for Noonan Syndrome

(Date:7/10/2014)... (Boston) Emergency Medical Service (EMS) responders felt better ... receiving focused tactical training according to a new study ... This is the first study to specifically examine the ... scene where a shooter has not yet been neutralized ... , Incidents such as the Columbine High School shooting, ...
(Date:7/10/2014)... baby" an infant seemingly cured of HIV that was reported ... infection in The New England Journal of Medicine ... two years of not taking antiretroviral therapy without evidence of ... in the case. , "Certainly, this is a ... staff involved in the child,s care, and the HIV/AIDS research ...
(Date:7/10/2014)... of Huddersfield could help to improve the quality of ... such as butter, mayonnaise, yoghurt and fruit drinks ... for her work. , Katerina gained her MSc degree ... now she has embarked on research for a PhD. ... is investigating the potential of carbohydrates extracted from the ...
(Date:7/10/2014)... men with localized prostate cancer were more likely ... received less effective treatments and survived for shorter ... depressed, a UCLA study has found. , The ... factors such as bias against the mentally ill, ... man,s lack of investment in his general health ...
(Date:7/9/2014)... DC (July 10, 2014) If you think winning is ... for kids think again: Winning along with other mental bonuses ... of which falls into one of 11 big fun factors, ... winning is all important when it comes to the "fun" ... and quantify what goes into this elusive conceptuntil now. , ...
Breaking Medicine News(10 mins):Health News:Active shooter training increases comfort level of emergency responders 2Health News:'Mississippi Baby' now has detectable HIV, researchers find 2Health News:'Mississippi Baby' now has detectable HIV, researchers find 3Health News:World interest in research work on the benefits of the Okra plant 2Health News:Depressed men with prostate cancer are diagnosed later stage, get less effective therapies 2Health News:Being a good sport ranks as the top 'fun' factor in study of youth sports 2Health News:Being a good sport ranks as the top 'fun' factor in study of youth sports 3
... Republic International Corporation (NYSE: ORI ) ... of the regular quarterly cash dividend of 17 cents per ... 2009 to shareholders of record on March 4, 2009.The latest ... approved for the second quarter of 2008. The rate ...
... as Asian AffiliateNEW YORK and SINGAPORE, Feb. 26 ... prevention services, has signed an affiliation agreement with ... group based in Singapore and a subsidiary of ... medicine programs throughout Asia. Under the agreement, ParkwayHealth ...
... 274 adults with intellectual disabilities currently receiving funding ... , Washington, DC(February 23, 2009)The Supports Intensity ... for people with intellectual disability based on individual ... tool, unlike adaptive behavior instruments or other measures ...
... the UCSF-Gladstone Institute for Virology and Immunology Center for ... of the next generation of HIV/AIDS researchers and clinician ... in the American Journal for Public Health ... the AJPH website, the program focuses on overcoming challenges ...
... PARK, Ill., Feb. 26 Abbott ( NYSE: ABT ),today ... (AMO). AMO is now a wholly owned subsidiary of ... The acquisition of AMO enhances and strengthens ... leadership position in the large and,growing eye care market. ...
... today announced results for the fourth quarter and year ended December 31, 2008. Highlights from continuing operations for the ... Financial Results, (amounts in millions, except per share amounts), ... Q4 ... ...
Cached Medicine News:Health News:U.S. Preventive Medicine(R), ParkwayHealth Sign Affiliation Agreement to Jointly Deliver Preventive Medicine Services in Asia 2Health News:U.S. Preventive Medicine(R), ParkwayHealth Sign Affiliation Agreement to Jointly Deliver Preventive Medicine Services in Asia 3Health News:Supports Intensity Scale is effective for identifying needs in people with intellectual disability 2Health News:Effective mentoring critical to HIV/AIDS research efforts 2Health News:Abbott Completes Acquisition of Advanced Medical Optics 2Health News:Carriage Services Announces Fourth Quarter 2008 Results 2Health News:Carriage Services Announces Fourth Quarter 2008 Results 3Health News:Carriage Services Announces Fourth Quarter 2008 Results 4Health News:Carriage Services Announces Fourth Quarter 2008 Results 5Health News:Carriage Services Announces Fourth Quarter 2008 Results 6Health News:Carriage Services Announces Fourth Quarter 2008 Results 7Health News:Carriage Services Announces Fourth Quarter 2008 Results 8Health News:Carriage Services Announces Fourth Quarter 2008 Results 9Health News:Carriage Services Announces Fourth Quarter 2008 Results 10Health News:Carriage Services Announces Fourth Quarter 2008 Results 11Health News:Carriage Services Announces Fourth Quarter 2008 Results 12Health News:Carriage Services Announces Fourth Quarter 2008 Results 13Health News:Carriage Services Announces Fourth Quarter 2008 Results 14Health News:Carriage Services Announces Fourth Quarter 2008 Results 15Health News:Carriage Services Announces Fourth Quarter 2008 Results 16Health News:Carriage Services Announces Fourth Quarter 2008 Results 17
(Date:1/14/2014)... Dynamic Healthcare Services, Inc. ("DHS"), a portfolio company of ... Home Medical Equipment, Inc. ("Progressive") of Clarion, PA ... acquisition were not disclosed. Progressive is a ... range of sleep, mobility, and respiratory products to customers in ...
(Date:1/14/2014)... , Jan. 14, 2014 Animal Emergency Critical Care, a ... Leesburg, Virginia is the first in ... chamber. Dr. Susan M. Barnes , Medical ... Barnes and husband, Dr. Cole Taylor , are avid scuba ...
(Date:1/14/2014)... NineSigma , Inc., the leading innovation partner to organizations ... May 14-16, 2014 at the Global Center for Health ... This is the premier industry event for ... open innovation. Participants will learn how world-changing innovation is ...
Breaking Medicine Technology:Dynamic Healthcare Services Completes Progressive Home Medical Equipment of Clarion, PA Investment 2Dynamic Healthcare Services Completes Progressive Home Medical Equipment of Clarion, PA Investment 3Hyperbaric Veterinary Medicine (hvm) Announces Animal Emergency Critical Care Installs A Small Animal Hyperbaric Chamber 2Expect the Unexpected from Leading Global Innovators at NineSigma Leadership Summit, Sharing Winning Strategies to Advance Innovation 2Expect the Unexpected from Leading Global Innovators at NineSigma Leadership Summit, Sharing Winning Strategies to Advance Innovation 3Expect the Unexpected from Leading Global Innovators at NineSigma Leadership Summit, Sharing Winning Strategies to Advance Innovation 4
Non-Illuminated Trial Lens Set is an attractive set of trial lenses worked to a high standard of accuracy....
Trial Lens Sets....
... disc test (P/N LD15C) include a durable ... instructions. P/N LD15C also includes a Plexiglas ... covers for the test subjects fingers ( ... color discs). Beware that these finger cots ...
Opti-Free Express multi-purpose disinfecting solution lasting comfort No Rub formula provides triple action protection for your contact lenses....
Medicine Products: