Navigation Links
Rare developmental disorder linked to tumor-suppressing protein, Stanford researchers find
Date:8/3/2014

CHARGE, which affects 1 in 10,000 babies, is an acronym whose letters stand for some of the more common symptoms of the condition: coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness.

Originally, the researchers were examining the tumor-suppressive properties of the protein, called p53, not investigating developmental disorders. But when a mouse model developed a strange set of deficiencies, the researchers followed a trail of clues that led them to link p53 with CHARGE syndrome.

"It was a very big surprise and very intriguing," said Jeanine Van Nostrand, PhD, lead author of a paper describing the research and a former Stanford graduate student, now at The Salk Institute for Biological Studies. "P53 had never before been shown to have a role in CHARGE."

The paper will be published online Aug. 3 in Nature. The senior author is Laura Attardi, PhD, professor of radiation oncology and of genetics.

Cellular quality control regulator

The researchers originally created a mouse model that expressed a mutated form of the protein, known as p53, to investigate the behavior of p53 in suppressing tumors. Mice expressing only the mutated protein survived. But to their surprise, heterozygous mice, or those with one copy of the mutated p53 and one normal copy, developed symptoms of CHARGE and died in utero.

P53 is a cellular quality-control regulator. When it spots an ailing cell, it triggers other proteins to kill the cell or arrest its division. In a developing human or mouse, other proteins switch off p53 so it doesn't inadvertently kill important cells. The mutated form of p53 created by the researchers had a disabled off-switch, but it also couldn't communicate with other proteins to spark the cellular death. Therefore, a mouse containing only the mutated p53 surv
'/>"/>

Contact: Rosanne Spector
manishma@stanford.edu
650-725-5374
Stanford University Medical Center
Source:Eurekalert

Page: 1 2

Related medicine news :

1. DC Adventure Team Challenge Thrills Developmentally-Disabled Participants
2. Pop.Earth & Root Health Launch Colorado Yoga Program for Children with Autism Spectrum Disorder & Developmental Disabilities
3. Developmental psychologist explains her lifes work studying the mysteries of the mind
4. Zebrafish research meeting to highlight advances in genetics and developmental biology
5. RSNA: Brain Chemical Ratios Help Predict Developmental Delays in Preterm Infants
6. Brain chemical ratios help predict developmental delays in preterm infants
7. Congenital heart defects affects long-term developmental outcome
8. Researchers call for health-care changes to help adults with developmental disabilities
9. New study on neurodevelopmental effects of prenatal exposure to paracetamol
10. Focus on developmental approach to obesity in children and adolescents
11. Let's Help Children Read - A New Vision of Reading Readiness Through Developmental Movement from Katie Johnson, Author of Red Flags for Primary Teachers
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/1/2015)... (PRWEB) , ... September 01, 2015 , ... ... it is now offering the MonaLisa Touch® , an innovative vaginal health ... MonaLisa Touch® is a new hormone-free treatment for atrophic vaginitis, a condition that ...
(Date:9/1/2015)... ... , ... The Jerry Segal Classic to benefit the patients of Magee Rehabilitation ... in Lafayette Hill, PA. Over the past 26 years, the Classic, organized by the ... designed to support patients and their families during their time at Magee Rehabilitation Hospital. ...
(Date:9/1/2015)... Francisco, Calif. (PRWEB) , ... September 01, 2015 ... ... to corporations, law firms and government entities, announced today that it has hired ... Senior Discovery Consultant. In this capacity, Sanderson will be responsible for establishing ...
(Date:9/1/2015)... New York, New York (PRWEB) , ... September 01, 2015 , ... ... of Zecurion Zlock Mac , its groundbreaking new version of endpoint DLP developed ... testing of Zlock Mac, in which more than 100 IT and information security professionals ...
(Date:9/1/2015)... D.C. (PRWEB) , ... September 01, 2015 , ... Two ... better cross cultural relations through food and dining. , Recently named “the next ... and Luigi Diotaiuti are known for telling the whole story behind food and reclaiming ...
Breaking Medicine News(10 mins):Health News:Houston's Plaza OB/GYN Now Offering the MonaLisa Touch® 2Health News:Houston's Plaza OB/GYN Now Offering the MonaLisa Touch® 3Health News:The 26th Jerry Segal Classic Returns to Benefit Patients of Magee Rehabilitation Hospital 2Health News:The 26th Jerry Segal Classic Returns to Benefit Patients of Magee Rehabilitation Hospital 3Health News:Former NFL Standout Scott Sanderson Joins eDiscovery Leader Discovia 2Health News:Zecurion Announces Endpoint Security for Mac 2Health News:Chefs Amy Riolo and Luigi Diotaiuti Embark on Culinary Diplomatic Quest to Build Bridges through Global Cuisine 2Health News:Chefs Amy Riolo and Luigi Diotaiuti Embark on Culinary Diplomatic Quest to Build Bridges through Global Cuisine 3Health News:Chefs Amy Riolo and Luigi Diotaiuti Embark on Culinary Diplomatic Quest to Build Bridges through Global Cuisine 4
... LAS VEGAS, Jan. 8 CardioVascular,BioTherapeutics, Inc. (OTC Bulletin ... United States opened for patient enrollment for,its ACORD Phase ... heart,disease. The sites are University of California ... Lauderdale, FL. , Mercy Hospital ...
... or defer purchases of imaging IT systems, according ... According to Millennium Research Group,s (MRG,s) US ... report, the budgetary constraints facing many health care ... archiving and communication systems (PACS), radiology information systems ...
... Isis Pharmaceuticals, Inc. (Nasdaq: ISIS ) announced ... Morgan Healthcare Conference in San Francisco, CA. Stanley T. ... an overview of the Company and an update on recent ... PT (2:30 p.m. ET) on Monday, January 12, 2009. ...
... Degrees Band Founder Urges Youth to Become Organ Donors ... Jeff Timmons, the founder of the pop band ... Resolution for all of his fans - sign up ... life. (Photo: http://www.newscom.com/cgi-bin/prnh/20090108/NY56781 )Named the celebrity ...
... 30 million Americans in the U.S. are,functionally illiterate and ... grow up illiterate(1). The need for additional tools to ... President-Elect Barack Obama,has pledged $10 billion toward early childhood ... has set the standard for how best to,use interactive ...
... company standardizes on AVG Network Edition , ... ... Healthcare, founded in 1999, provides behavioral healthcare services for people ... behavioral problems. The company has 23 locations across Pennsylvania, with ...
Cached Medicine News:Health News:CVBT Opens Two Additional Sites for Its ACORD Phase II Heart Trial 2Health News:Budgetary Constraints on Health Care Facilities to Affect PACS, RIS, and CVIS Markets 2Health News:Isis Pharmaceuticals to Present at the J.P. Morgan Healthcare Conference 2Health News:Jeff Timmons and the Heather Trew Foundation Join Forces to Promote Organ Donations 2Health News:U.S. Department of Education-Funded Study Demonstrates, WordWorld, PBS KIDS(R) Television Series Works as Critical Early Literacy Tool 2Health News:U.S. Department of Education-Funded Study Demonstrates, WordWorld, PBS KIDS(R) Television Series Works as Critical Early Literacy Tool 3Health News:U.S. Department of Education-Funded Study Demonstrates, WordWorld, PBS KIDS(R) Television Series Works as Critical Early Literacy Tool 4Health News:Walling Data and AVG Restore Pyramid Healthcare's Efficiency 2Health News:Walling Data and AVG Restore Pyramid Healthcare's Efficiency 3Health News:Walling Data and AVG Restore Pyramid Healthcare's Efficiency 4
(Date:9/1/2015)... --NOWDiagnostics Inc., based in Springdale, Ark. , ... Canada , a move that brings the company ... have greater access to information concerning their health. ... blood-based rapid tests that allow health care providers to ... ailments and diseases. ZBx Corporation, a Toronto ...
(Date:9/1/2015)... , Sept. 1, 2015  Dr. Cindy ... Labs , the cannabis testing subsidiary of DigiPath, Inc. ... Group about the lack of consistency in today,s ... online resource for medical cannabis information, she explained that ... because their lack of uniform requirements makes standardization impossible. ...
(Date:9/1/2015)... 1, 2015   Alpha Imaging LLC , a leading distributor ... announced today that they have been awarded exclusive rights to ... in Michigan.   The new territory supplements Alpha Imaging,s existing Shimadzu sales ... Ohio , Indiana , ... , West Virginia , Delaware ...
Breaking Medicine Technology:NOWDiagnostics Inc. Acquires Canada's ZBx Corporation 2NOWDiagnostics Inc. Acquires Canada's ZBx Corporation 3DigiPath Labs CSO Dr. Cindy Orser Calls for Uniform Standards for Cannabis Safety Testing 2DigiPath Labs CSO Dr. Cindy Orser Calls for Uniform Standards for Cannabis Safety Testing 3Alpha Imaging Expands Shimadzu Territory 2
... Medical Systems (NYSE: VAR ) today announced that ... N.A. to repurchase $250 million of its common stock under ... revolving credit facility with Bank of America, N.A. to increase ... Under the accelerated repurchase agreement, Varian will pay $250 ...
... Boehringer Ingelheim Pharmaceuticals, Inc. (BIPI) today announced ... trial evaluating the safety and pharmacokinetics of dabigatran ... valves.(1) The 12-week study will compare three doses ... 300mg bid) to warfarin in patients with both ...
Cached Medicine Technology:Varian Medical Systems Announces $250 Million Accelerated Stock Repurchase; Increases Its Revolving Credit Facility 2Varian Medical Systems Announces $250 Million Accelerated Stock Repurchase; Increases Its Revolving Credit Facility 3Boehringer Ingelheim to Launch RE-ALIGN™ Trial to Evaluate Dabigatran Etexilate in Patients with Mechanical Heart Valves 2Boehringer Ingelheim to Launch RE-ALIGN™ Trial to Evaluate Dabigatran Etexilate in Patients with Mechanical Heart Valves 3Boehringer Ingelheim to Launch RE-ALIGN™ Trial to Evaluate Dabigatran Etexilate in Patients with Mechanical Heart Valves 4Boehringer Ingelheim to Launch RE-ALIGN™ Trial to Evaluate Dabigatran Etexilate in Patients with Mechanical Heart Valves 5Boehringer Ingelheim to Launch RE-ALIGN™ Trial to Evaluate Dabigatran Etexilate in Patients with Mechanical Heart Valves 6Boehringer Ingelheim to Launch RE-ALIGN™ Trial to Evaluate Dabigatran Etexilate in Patients with Mechanical Heart Valves 7
... a whole blood hematology control manufactured specifically ... 120, and the Coulter AcT5diff instruments. The ... white cell differential, positioning the populations within ... systems. The product offers 105-day closed-vial stability ...
... assayed hematology control, offers complete assay values ... with the Coulter GENS, STKS, MAXM and ... stability, 105-day closed-vial stability and is available ... 4.0ml pierceable cap vial is compatible with ...
Abiomed introduces its new intra-aortic balloon (IAB); an easy-to-insert, minimally invasive technology designed to enhance blood flow to the heart and other organs for patients with diminished heart...
Diagnosoft HARP is designed for rapid analysis of tagged cardiac MR images using the HARP technology, which is packaged into an intuitive, easy-to-use graphic user interface....
Medicine Products: