Navigation Links
Without this protein, embryonic development halts
Date:5/13/2010

Chromosome 22q11 deletion syndrome (also known as DiGeorge syndrome) is the most common human chromosome deletion syndrome, having an estimated incidence of at least one in 4,000 live births. It has a range of severity but a multisystem impact, with symptoms that may include congenital heart defects, immunologic and endocrine abnormalities, cleft palate, gastrointestinal problems, and neuropsychiatric abnormalities.

Nearly three-quarters of patients identified with this deletion syndrome have cardiac defects, and research into the underlying biology of this disorder has uncovered new knowledge of biological processes in both congenital heart disease and early embryonic development.

In the May 2010 issue of Experimental Biology and Medicine, Jason Z. Stoller, M.D., of The Children's Hospital of Philadelphia, collaborating with Jonathan A. Epstein, M.D., scientific director of the Penn Cardiovascular Institute of the University of Pennsylvania, report on an important interaction of two proteins, Ash2l and Tbx1, during early mammalian development. "In humans and other mammals, the heart is among the first organs to develop," said Stoller. "Greater knowledge of biological events that occur in the earliest stages of development helps us to better understand both normal and abnormal heart development."

In cell and animal studies, the researchers discovered that Ash2l, a core component of a protein complex responsible for epigenetic modifications, is absolutely essential to early embryogenesis; without this protein, mouse embryos did not survive past the first few days of gestation.

The region of chromosome 22 that is most commonly lost in DiGeorge syndrome contains more than 30 genes, among them the gene for the transcription factor Tbx1. The Tbx family of nuclear transcription factor proteins shares a T-box, a conserved DNA binding domain that mediates regulation of downstream genes. In 2005, Epstein and Stoller identified
'/>"/>

Contact: John Ascenzi
ascenzi@email.chop.edu
267-426-6055
Society for Experimental Biology and Medicine
Source:Eurekalert

Page: 1 2

Related medicine news :

1. Enjoy Pregnancy Without Foot Pain: Foot and Ankle Surgeon Offers Guidelines
2. Myth Debunked: Baby Shower Gifts CAN Be Personalized Without Knowing Name Or Gender
3. Love handles repurposed for breast reconstruction in women without enough belly fat
4. Epione Helps Women Get Ready for Bikini Season without Hitting the Gym
5. Recent Studies Show MAstertuck℠ Technique Removes Large Amounts of Body Fat without Tummy Tuck Surgery
6. Real Men Don't Take Erectile Dysfunction Drugs Without a Prescription
7. SensiblyCelibate.com Encourages Relationships Without the Pressures of Becoming Intimate Too Prematurely
8. Should Cholesterol Drugs Be Used By Those Without High Cholesterol?
9. Pregnant women can receive breast cancer chemotherapy without endangering health of their babies
10. Adritech Software Releases Website Realizer, a Website Builder to Create Websites without Any Programming Knowledge
11. Palladians Distinguished Clinicians Present at APTAs National CSM Convention in San Diego on Evidenced Informed Management of Chronic Low Back Pain Without Surgery
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/31/2015)... (PRWEB) , ... July 31, 2015 , ... Indosoft, Inc., ... builder in Q-Suite 5.9. Q-Suite is their flagship contact center ACD system for ... the agent script display logic shows the script components to the agent only when ...
(Date:7/31/2015)... ... July 31, 2015 , ... ... contributor for LeadingAge’s Center for Aging Services Technologies (CAST) Medication Management Technologies whitepaper. ... and post-acute care providers understand the benefits of using medication management technologies ...
(Date:7/31/2015)... ... July 31, 2015 , ... ... Hospital's Karmanos Center for Natural Birth . The Karmanos Center for ... safe natural childbirth experience. With nurses and caregivers that are trained in holistic ...
(Date:7/31/2015)... ... , ... New Energy Works Timberframers invites the public to join their timber ... from 9am – 12pm. Timber frame raisings are special, celebrating both craft ... the culmination of months of effort, planning, fundraising, and dreaming takes shape. , ...
(Date:7/31/2015)... (PRWEB) , ... July 31, 2015 , ... ... of All Types " from NBC talked about a woman’s unfortunate experience having ... performed sclerotherapy on her face, which resulted in blistering, swelling, bruising, and pain. ...
Breaking Medicine News(10 mins):Health News:Q-Suite 5.9 Adds Validation Tools to Call Center Software Agent Screen 2Health News:LeadingAge Selects Eldermark Case Study to Highlight Medication Error Reduction Results 2Health News:LeadingAge Selects Eldermark Case Study to Highlight Medication Error Reduction Results 3Health News:Timber Frame Raising: Granary District Stage Amphitheater Timber Frame Hand-Raising by New Energy Works Timberframers 2Health News:Timber Frame Raising: Granary District Stage Amphitheater Timber Frame Hand-Raising by New Energy Works Timberframers 3Health News:Dermatologists Discuss Rise in Unqualified Practitioners of Cosmetic Dermatology 2Health News:Dermatologists Discuss Rise in Unqualified Practitioners of Cosmetic Dermatology 3
... 4 Eric Jansen has joined the ASG, Inc., ... Development), Jansen will work out of ASG,s Grayslake office. ... him into our organization. Eric has a strong business ... look forward to his expanding ASG,s presence throughout the ...
... May 4 Neogen Corporation (Nasdaq: NEOG ... leading developer, manufacturer and marketer of test kits to ... drugs in forensic and animal samples.Based in St. Joseph, ... 20 years, and offers approximately 40 products. In addition ...
... 4 May is Older Americans Month. ... the contributions of the 37 million older Americans ... this report from Ovations - A UnitedHealth Group ... Registered journalists can access video, audio, text, graphics ...
... Women will be flocking to this ZERONA™ laser doctor ... The ZERONA™ lipo-laser is a new body-sculpting procedure ... invasive surgery, and it is taking Los Angeles by ... Dr. Troy Don DC QME out of Rancho Cucamonga ...
... Association (ISA ) is proud to attend the 11th ... , South Africa on May 5th and ... will be participating in the invitation-only event. Two members of the ... will represent Illinois farmers and the soybean checkoff. An Exciting ...
... Richard Junghans, MD, associate professor of surgery at Boston ... Research was named principal investigator of a grant to ... modified to fight their disease. Junghans along with colleagues ... Impact Award, from the Department of Defense Breast Cancer ...
Cached Medicine News:Health News:Neogen Acquires International Diagnostic Systems 2Health News:ZERONA™ Laser Liposuction: New Non-Surgical, Pain-Free Technology Emerges in the Los Angeles Area 2Health News:ZERONA™ Laser Liposuction: New Non-Surgical, Pain-Free Technology Emerges in the Los Angeles Area 3Health News:Illinois Soybean Association to Participate in Global Child Nutrition Forum in South Africa 2
(Date:7/30/2015)...  Amgen (NASDAQ: AMGN ) today announced the appointment ... Warburg Pincus LLC, to the Amgen Board of Directors. ... and the deep, global experience he brings in the ... Bradway , chairman and chief executive officer of Amgen. "Fred,s breadth ... well." Mr. Hassan has been Partner and Managing ...
(Date:7/30/2015)... Ohio , July 30, 2015  Cleveland Clinic ... OMTEC® 2015 keynote address last month that industry is ... in order to gain the efficiencies—and develop the transformational ... Dr. Barsoum,s comments were preceded by Doug ... entrepreneur and OMTEC moderator, who stressed that industry must ...
(Date:7/30/2015)...  Growth of the U.S. nonprescription market is primarily ... users to the OTC market. Due to an increasingly ... switch activity over the next five years with several ... brands entering the market into existing categories. ... (even those with low to moderate likelihood), the market ...
Breaking Medicine Technology:Amgen Announces Appointment Of Fred Hassan To Board Of Directors 2Amgen Announces Appointment Of Fred Hassan To Board Of Directors 3Orthopaedic Surgery Reimbursement Shifts to Episode of Care 2Rx-to-OTC Switches -- Game Changers for the U.S. OTC Drugs Market through 2019, Sees Kline 2Rx-to-OTC Switches -- Game Changers for the U.S. OTC Drugs Market through 2019, Sees Kline 3
... , SAN DIEGO, Sept. 11 Calixa ... development and commercialization of novel antibiotics for the treatment ... in 20 posters at the Interscience Conference on Antimicrobial ... San Francisco on September 12 to 15, 2009. ...
... , , , ... preliminary schedule of events at the Cardiovascular Research Foundation,s (CRF) ... September 21st to Friday, September 25th, in San Francisco, CA. ... the world,s largest events for those performing cardiac diagnostics and ...
Cached Medicine Technology:Calixa Therapeutics to Make Multiple Presentations on CXA-101 and CXA-101/tazobactam at the 49th Annual Interscience Conference on Antimicrobial Agents and Chemotherapy 2Calixa Therapeutics to Make Multiple Presentations on CXA-101 and CXA-101/tazobactam at the 49th Annual Interscience Conference on Antimicrobial Agents and Chemotherapy 3Calixa Therapeutics to Make Multiple Presentations on CXA-101 and CXA-101/tazobactam at the 49th Annual Interscience Conference on Antimicrobial Agents and Chemotherapy 4InfraReDx to Showcase the LipiScan(TM) Coronary Imaging System at the Cardiovascular Research Foundation's (CRF) Annual Transcatheter Cardiovascular Therapeutics (TCT) Scientific Meeting 2
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
... a national reference laboratory and a worldwide ... ARUP offers an extensive test menu of ... clinical and anatomic pathology. Owned by the ... more than half of the nation's university ...
... national reference laboratory and a worldwide leader ... offers an extensive test menu of highly ... and anatomic pathology. Owned by the University ... than half of the nation's university teaching ...
... a national reference laboratory and a worldwide ... ARUP offers an extensive test menu of ... clinical and anatomic pathology. Owned by the ... more than half of the nation's university ...
Medicine Products: