Navigation Links
In Rare Disorder, a Familiar Protein Disrupts Gene Function
Date:5/27/2009

-Knowledge May Improve Diagnosis for Children with Cornelia deLange Syndrome-

PHILADELPHIA, May 27 /PRNewswire-USNewswire/ -- An international team of scientists studying a rare genetic disease discovered that a bundle of proteins with the long-established function of keeping chromosomes together also plays an important role in regulating genes in humans.

When gene regulation is disrupted in the multisystem genetic disease Cornelia deLange syndrome (CdLS), children may suffer missing hands or fingers, mental retardation, growth failure, cleft palate, heart defects, and other impairments. For families and patients, better knowledge of how those genes perturb normal development may enable researchers to design better diagnostic tests for the disease, and also provide targets for eventual treatments.

The study appeared May 26 in the online journal Public Library of Science Biology (PloS Biology). The study leader was Ian D. Krantz, M.D., a specialist in pediatric genetics at The Children's Hospital of Philadelphia, where he directs a unique full-service clinic for children with CdLS.

First described in 1933, CdLS affects multiple organs and typically results in distinctive facial features, such as thin eyebrows that join, long eyelashes, thin lips, and excessive body hair. It affects an estimated one in 10,000 children. In the past, CdLS was only recognized in its very severe form that was often fatal in childhood; now most children with the condition live into adulthood. CdLS has a wide range of severity, with the mildest form manifesting as apparent isolated mental retardation and/or autism.

Krantz and colleagues investigated cohesin, a protein complex consisting of at least four proteins that form a ring that encircles chromosomes during cell division. Cohesin's long-established role, called "canonical" by the authors, is to control chro
'/>"/>

SOURCE The Children's Hospital of Philadelphia
Copyright©2009 PR Newswire.
All rights reserved

Page: 1 2 3 4

Related medicine technology :

1. Adlyfe Study on the Detection of Misfolded Proteins Published in the Journal Transfusion
2. CEL-SCI Presents Data for CEL-1000 as a Vaccine Adjuvant with Recombinant Hepatitis B Virus Protein
3. Study Published in Endocrinology Reports Potential of Modigene Technology to Extend Duration of Protein Drugs
4. Study Suggests Soy Protein May Reduce Prostate Cancer Risk
5. Vical Demonstrates Dose-sparing of Protein-based H5N1 Influenza Vaccine With Vaxfectin(TM) Adjuvant
6. Exelixis Reports Top-Line Results of the Phase 2 Trial of XL784 in Patients With Proteinuria Associated With Diabetic Nephropathy
7. First High-Res 3-D Structures of Mammalian HSP90 Protein Solved, Key to Better Targets for AIDS, Sepsis, Cancer Drugs
8. The New England Journal of Medicine Publishes First Clinical Results for MedImmunes Chitinase-like Protein YKL-40 in Patients With Asthma
9. VioQuest Pharmaceuticals Announces Dosing of First Patient in Phase IIa Solid Tumor Study for Lenocta(TM), a Novel Protein Tyrosine Phosphatase Inhibitor
10. Neptune Industries Reports Favorable Phase II Trial Results on Ento- Protein(TM)
11. Fundamental Applied Biology, Inc. Is Awarded SBIR Phase IIB Grant for the Commercialization of Protein Therapeutics Using Cell Free Technology
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/24/2014)... 24, 2014  Diplomat Pharmacy, Inc. (NYSE: ... proud to announce Jennifer Hagerman , Pharm.D., AE-C, ... take office as the president of the Michigan Pharmacists ... will take place Feb. 28, 2015, at the MPA ... the Renaissance Center in Detroit, Michigan ...
(Date:12/24/2014)... Dec. 23, 2014  Advanced Medical Isotope Corporation ... primarily in the development of brachytherapy devices and ... announced that it has filed a de ... Administration ("FDA") for marketing clearance for its patented ... the U.S. Food, Drug and Cosmetic Act (the ...
(Date:12/24/2014)... DALLAS , Dec. 23, 2014  Lockton ... operation of Lockton Companies, announced the addition of ... Foerster will join Lockton Dunning,s Pharmacy Consulting team, ... years of relevant industry experience to the position.  ... Managed Market Sales at Diplomat Specialty Pharmacy, where ...
Breaking Medicine Technology:Diplomat's senior director of education and quality to be inducted as 2015 president of the Michigan Pharmacists Association 2Diplomat's senior director of education and quality to be inducted as 2015 president of the Michigan Pharmacists Association 3Advanced Medical Isotope Corporation Files a "de novo" Submission for Y-90 RadioGel(TM) Device 2Advanced Medical Isotope Corporation Files a "de novo" Submission for Y-90 RadioGel(TM) Device 3Kim Foerster Joins Lockton Companies 2
(Date:12/25/2014)... The microscopy market is estimated to grow at ... by 2019. Optical microscopy is the largest segment ... segment is expected to show the fastest growth ... nanotechnology, technological advancements, and increasing federal support to ... Full Copy of Report @ http://www.marketsandmarkets.com/Market-Reports/world-microscopy-399.html ...
(Date:12/25/2014)... 25, 2014 Product liability lawsuits filed ... recall ( http://www.consumerinjurylawyers.com/DePuy/ ) continue to move forward in ... Order issued in the U.S. District Court, Northern District ... an open conference on January 7, 2015, at the ... in West Palm Beach, Florida. The Conference is scheduled ...
(Date:12/25/2014)... (PRWEB) December 25, 2014 Recently, ... discounts on all its wedding dresses. BellasDress has chosen ... more for gift choices for the holiday season. ... can pick suitable wedding gowns here at discount prices. ... shopping experience at its website. , “All ...
(Date:12/25/2014)... Dennis Thompson HealthDay Reporter ... children with complex chronic illnesses can receive effective, less expensive ... with easy access to a team of dedicated health care ... to become seriously ill and need either hospitalization or a ... an enhanced medical home clinic at the University of Texas ...
(Date:12/25/2014)... AngelWeddingDress.com tries its best to translate the experience ... business has introduced its new collection of 2015 prom ... The new prom outfits are guaranteed to contain the ... are specially designed for 2015. Anyone who wants to ... its website before Jan. 26, 2015, the deadline of ...
Breaking Medicine News(10 mins):Health News:Microscopy Market Hit to $5,756.0 Million by 2019 - New Research Report by MarketsandMarkets 2Health News:Microscopy Market Hit to $5,756.0 Million by 2019 - New Research Report by MarketsandMarkets 3Health News:Microscopy Market Hit to $5,756.0 Million by 2019 - New Research Report by MarketsandMarkets 4Health News:Federal Court Overseeing DePuy ASR Hip Lawsuit Set to Convene Conference in January, Bernstein Liebhard LLP Reports 2Health News:Federal Court Overseeing DePuy ASR Hip Lawsuit Set to Convene Conference in January, Bernstein Liebhard LLP Reports 3Health News:BellasDress.com’s Christmas Sale: Trendy Wedding Dresses With Big Discounts 2Health News:Coordinated Care Through 'Medical Home' Best for Chronically Ill Kids: Study 2Health News:Coordinated Care Through 'Medical Home' Best for Chronically Ill Kids: Study 3Health News:Angelweddingdress 2015 Prom Dresses Online Now 2
... ... reform in memory of her brother Eric, reacts to the U. S. Senate’s dramatic passage ... legislation with the House bill before being sent to the President. , ... New York, NY (PRWEB) December 24, 2009 -- ...
... ... Patients have more options, according to Dr. Geoffrey Westrich, co-director of joint replacement research at ... ... advances have revolutionized the way doctors perform hip replacement and knee replacement surgery to relieve ...
... 27, 2009 Ben W. Strowbridge, PhD, associate professor ... a MD/PhD student in the neurosciences graduate program ... are the first to create stimulus-specific sustained activity ... Their study, entitled, "Representing information in cell assemblies: ...
... ... Worldwide (CFW) has launched a 5 year campaign to raise funds internationally to ... Campaign is a unique opportunity for everyone to help support children born with ... 5 US dollars. The CF Worldwide goal is to have 50,000 members join ...
... , SEATTLE, Dec. 25 The following blog post was published ... synthesis blog, winner of the 2008 Weblog award for best ... is a direct correlation between level of education and economic status; ... is a direct correlation between fitness and healthcare cost. There is ...
... occasional treat while sticking to your diet. Here,s how. , FRIDAY, ... chocolate chips you,ve eaten and that box of Santa Claus-shaped candies ... opportunities to overeat and overindulge aren,t over yet. , Before you ... too late to get a handle on your holiday eating. , ...
Cached Medicine News:Health News:A Christmas Gift for Eric: Senate Approves Health Care Bill in Historic Christmas Eve Vote 2Health News:Medical Advances Revolutionize Hip Replacement and Knee Replacement 2Health News:Medical Advances Revolutionize Hip Replacement and Knee Replacement 3Health News:Neuroscientists at Case Western Reserve University store information in isolated brain tissue 2Health News:Neuroscientists at Case Western Reserve University store information in isolated brain tissue 3Health News:Cystic Fibrosis Worldwide Launches a New Campaign to Reach Thousands Who Suffer from CF 2Health News:Cystic Fibrosis Worldwide Launches a New Campaign to Reach Thousands Who Suffer from CF 3Health News:Eat Up, But Eat Healthy This Holiday Season 2
Castroviejo colibri tying forceps with 5 mm tips and 5 mm titanium coated platforms. Length 110 mm....
Tennant straight tying forceps with extra delicate smooth jaws, 6 mm tying platform, For 9-0 to 11-0 sutures. Overall length 108 mm....
Kelman - McPherson angled tying forceps is long with tying platform 10 mm, serrated handle and polished finish....
Castroviejo tying forceps, straight....
Medicine Products: