Navigation Links
Case Western Reserve University uncovers genetic basis for some birth defects
Date:11/10/2008

CLEVELAND November 10, 2008 A multidisciplinary research team at Case Western Reserve University led by Gary Landreth, Ph.D., a professor in the School of Medicine's Department of Neurosciences, has uncovered a common genetic pathway for a number of birth defects that affect the development of the heart and head. Abnormal development of the jaw, palate, brain and heart are relatively common congenital defects and frequently arise due to genetic errors that affect a key developmental pathway.

The research, titled "Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development" is published in the November 10 issue of the Proceedings of the National Academy of Sciences of the United States of America.

Landreth, also the senior author of the study, developed a mouse model of these disorders by removing a gene central to this developmental pathway, called ERK2. He, together with Dr. William Snider at the University of North Carolina, discovered that the mice missing the gene for ERK2 in neural crest cells had developmental defects resembling those of human patients with a deletion that includes this gene. The patients have features that are similar to DiGeorge syndrome, which is associated with cardiac and palate defects. Interestingly, the ERK2 gene is central to a well-known pathway already associated with a different distinct group of cardiac and craniofacial syndromes that include Noonan, Costello, Cardiofaciocutaneous syndrome, and LEOPARD syndrome.

Landreth enlisted the help of Michiko Watanabe, Ph.D., professor of Pediatrics at Case Western Reserve University School of Medicine to look at the mouse hearts. She and her team found that they had characteristic heart defects resembling those seen in the patients with ERK2 deletions.

"Given Dr. Watanabe's findings, we determined that we had in fact developed animal models that mimicked the human deletion syndrome,"
'/>"/>

Contact: Christina Thompson
christina.a.thompson@case.edu
216-368-3635
Case Western Reserve University
Source:Eurekalert  

Page: 1 2

Related biology news :

1. Western diet linked to increased risk of colon cancer recurrence
2. UT Southwestern researchers identify hundreds of genes controlling female fertility
3. Northwestern to expose most deadly infectious diseases in 3-D
4. Northwestern study looks at sensing, movement and behavior
5. Tiny dust particles from Asian deserts common over western United States
6. Threatened bird species finds home at Western
7. BMI criteria for obesity surgery should be lowered, UT Southwestern researcher suggests
8. UT Southwestern secures $5 million NIH grant for lupus research
9. UT Southwestern scientist honored among best in Texas research
10. Western Groundfish Conference to be held in Santa Cruz on Feb. 4-8
11. Stem-cell transplantation improves muscles in MD animal model, UT Southwestern researchers report
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Case Western Reserve University uncovers genetic basis for some birth defects
(Date:7/27/2015)... 27, 2015  Synaptics Inc. (NASDAQ: SYNA ... today announced that Huawei has selected the Synaptics ... its stylish smartwatch. Huawei chose the state-of-the-art ClearPad ... power and highly responsive human interface qualities such ... also required a classic round watch face and ...
(Date:7/21/2015)... 21, 2015 Today, ZTE announced its Android ... well as expected revenues in 2015 that relate to sales of ... guidance of approximately 2,200 MSEK for 2015. Jörgen Lantto, ... smartphone manufacturer in China and we are ... 5 for Axon , its ...
(Date:7/13/2015)... Calif. , July 13, 2015 ... developer of human interface solutions, today announced sampling ... touch and display driver integration (TDDI) product targeting ... the first to combine Synaptics , best-in-class ... proven display driver technology developed in the company,s ...
Breaking Biology News(10 mins):Synaptics Touchscreen Solution Powers New Huawei Watch 2Synaptics Touchscreen Solution Powers New Huawei Watch 3FPC's Touch Fingerprint Sensor FPC1025 in ZTE's Smartphone Axon 2Synaptics Announces Sampling of Second Generation TDDI Solutions 2Synaptics Announces Sampling of Second Generation TDDI Solutions 3
... Dec. 14, 2012 A fast growing, flesh-eating fungus ... Joplin, Mo., according to two new studies based on ... and the U.S. Centers for Disease Control and Prevention ... caused by the fungus Apophysomyces , according to ...
... their peers as fellows of the American Association for ... of Medicine,s Linzhao Cheng, Ph.D., of the Department of ... and Duojia Pan, Ph.D., of the Department of Molecular ... around the world. AAAS fellows are honored for their ...
... The Sackler Institute for Nutrition Science at the ... the World Health Organization, has developed an unprecedented ... policy makers, and global leaders. Developed through research ... nutrition science and public health, the agenda identifies ...
Cached Biology News:Fungus responsible for 5 deaths in the wake of massive tornado 2Fungus responsible for 5 deaths in the wake of massive tornado 33 Johns Hopkins researchers named AAAS Fellows 2The Sackler Institute unveils a global research agenda for nutrition science 2
(Date:7/30/2015)... -- AACC welcomed thousands of medical professionals and ... & Clinical Lab Expo in Atlanta ... revolutionary advancements in clinical testing technology and research ... diagnose patients quickly and accurately and make sure ... As of Wednesday, July 29, more than 17,500 ...
(Date:7/30/2015)... USA (PRWEB) , ... July 30, 2015 , ... ... microsystems, has appointed Francois Vieillard as Sales & Marketing Director. , With ... Francois Vieillard will be responsible for reinforcing Tronics’ business development activities worldwide. He ...
(Date:7/30/2015)... VANCOUVER, Washington , July 30, 2015 ... "Biosimulation Market, by Product (Software, Molecular Modeling, PB/PK, PKPD, ... (Drug Discovery & Development, Preclinical, Clinical Trial), by End ... the Biosimulation Market is expected to reach USD 2,107.99 ... at a CAGR of 15.29%. Browse ...
(Date:7/30/2015)... , July 30, 2015   Aratana ... pet therapeutics company focused on the licensing, development ... animals, today announced that its strategic partner VetStem ... dose confirmation study of AT-016, an adipose-derived allogeneic ... the treatment of osteoarthritis pain in dogs. ...
Breaking Biology Technology:Innovative Research on Cancer, Heart Disease, and Infectious Diseases Draws More than 17,500 Attendees to 2015 AACC Annual Meeting 2Innovative Research on Cancer, Heart Disease, and Infectious Diseases Draws More than 17,500 Attendees to 2015 AACC Annual Meeting 3Innovative Research on Cancer, Heart Disease, and Infectious Diseases Draws More than 17,500 Attendees to 2015 AACC Annual Meeting 4Tronics appoints Francois Vieillard as Sales and Marketing Director 2Biosimulation Market Worth 2,107.99 Million USD by 2020 2Biosimulation Market Worth 2,107.99 Million USD by 2020 3Biosimulation Market Worth 2,107.99 Million USD by 2020 4Aratana Therapeutics Announces Positive Pilot Field Study for AT-016 2Aratana Therapeutics Announces Positive Pilot Field Study for AT-016 3Aratana Therapeutics Announces Positive Pilot Field Study for AT-016 4Aratana Therapeutics Announces Positive Pilot Field Study for AT-016 5
... Carl ... , ... March 17, 2010 -- Carl Zeiss, a leading provider of microscopy solutions ... promotions. For a limited time, and only available online, these special web promotions include ...
... ... announced the availability of Centrifuge 1.8, the latest version of its groundbreaking data visualization ... ... a leading provider of next generation business intelligence software, today announced the availability of ...
... TAMPA, Fla. (March 16, 2010)Approximately half of Americans ... at some point during the course of their ... applies heat directly in the tumor causing cancer ... surrounding healthy liver, contributes to prolongation of their ...
Cached Biology Technology:Carl Zeiss Offers Online Promotions 2Centrifuge Releases New Data Visualization Software 2Centrifuge Releases New Data Visualization Software 3Living longer: Colon cancer patients gain time with radiofrequency ablation treatment 2Living longer: Colon cancer patients gain time with radiofrequency ablation treatment 3
... Microarrays designed for genome-wide microRNA expression profiling ... Paraflo microfluidic on-chip synthesis platform. These microarrays ... microRNA Expression Profiling Service. Probe ... all known cow microRNAs (108 unique mature ...
... legendary MSn performance of the LTQ, incorporating ... Thermo Scientifics innovations in ion trap technology. ... only mass spectrometer that offers multiple dissociation ... Q Collision Induced Dissociation (PQD) is a ...
... kits reduce the time and expense of ... sterile equipment to reduce the risk of ... for one animal, including swivel, tubing, tether ... cut to the exact lengths you specify, ...
... The MSQ™ Plus is a ... on the market for both LC and ... triple orthogonal Atmospheric Pressure Ionization (API) source ... MSQ Plus is compatible with existing LC ...
Biology Products: