Navigation Links
Researchers Discovered the Gene Responsible for Brittle Bone Disease

or bone fracture. Additional information about OI is available from the National Institute of Arthritis and Musculoskeletal and Skin Diseases.

Dr. Marini explained that from 10 to 15 percent of OI patients do not have a mutation in one of the collagen genes known to cause the disorder. She noted that researchers couldn't explain these cases, and began searching for possible causes.

"The hypothesis was that there must be one or more recessive genes causing something that looked like OI," she said.

The first clue came when colleagues Roy Morello Ph.D., and Brendan Lee, M.D., Ph.D. also authors of the current paper, developed a laboratory mouse that lacked functional copies of CRTAP. The researchers developed the mouse to understand the function of the CRTAP protein, which Dr. Morello had isolated earlier. The mice had deformed brittle bones. Next, Drs. Morello and Lee studied a family with an unexplained form of OI, learning that a partially functioning copy of the CRTAP gene accounted for a moderate form of the disease, designated type VII OI.

After learning of Dr. Morello and Dr. Lee's findings, Dr. Marini and her coworkers examined tissue samples from three patients in Dr. Marini's NIH laboratory. The patients had all died during their first year of life and the cause for their disorder was unknown. Dr. Marini had stored the samples, one for nearly 15 years, in hopes that a cause would eventually be discovered. The three patients had symptoms unlike other OI patients. For example, the children all had small heads. Most OI patients have proportionally larger heads. Moreover, the sclerae, or "whites" of the infants' eyes were white in coloration; in most OI patients, the sclerae are blue.

Dr. Marini and her colleagues tested samples from the three infants and learned that their CRTAP genes were nonfunctional and the infants completely lacked the CRTAP protein. In the two sets of parents who were available fo
'"/>




Page: 1 2 3

Related medicine news :

1. Researchers urge caution in using ear tube surgery
2. Researchers Scale to assess the Severity of Epilepsy in Kids
3. Researchers trick Alzheimers Enzyme
4. Researchers find new HIV hiding place
5. New Hair in 15 Days Could Now Be A Possibility Say Researchers
6. Researchers developed world’s smallest toothbrus
7. Researchers discover receptor cells that can cause epilepsy
8. 15 Anti-SARS Drugs Identified By China-Europe Team of Researchers
9. Researchers reversed the process of memory loss
10. Researchers Identify Key Gene That May Help Brain Treatment
11. Researchers Discover Protein That Causes Malaria
Post Your Comments:
(Date:7/11/2014)... The “Proteomics Market by Technology (Protein ... Plasmon Resonance, X-ray Crystallography) - Instruments, Reagents & ... studies the major market drivers, restraints, and opportunities ... of the World (RoW). , The proteomics market ... years, mainly due to the increasing need of ...
(Date:7/11/2014)... the best available treatment for patients, from a range ... for taxpayers than the existing clinical trial process, a ... carried out while he was a member of the ... based at The University of Manchester,s Health eResearch Centre, ... ) today (Friday 11 July) looked at the use ...
(Date:7/11/2014)... With the arrival of summer, VisitandCare.com ... surgery and hair transplant procedures, up 80 percent from ... of medical tourism destinations, the company is helping patients ... and achieve the look they have always desired. ... name in the medical tourism industry, VisitandCare.com is comprised ...
(Date:7/11/2014)... (PRWEB) July 11, 2014 Recently, Fadhits.com, the ... assortment of kids prom dresses . To bring more ... firm has also launched a special offer for these brand ... 25, 2014. , The company’s sales manager says gladly, “We ... this special offer is to acknowledge all new and old ...
(Date:7/11/2014)... Francisco shows that an "expressive therapy" group intervention ... with HIV disclose their health status and improves ... quality of their relationships., "Medication alone is totally ... Machtinger, MD, director of the Women,s HIV Program ... are on effective antiretroviral therapy but far too ...
Breaking Medicine News(10 mins):Health News:Proteomics Market Worth $20,696.4 Million by 2018 - New Report By MarketsandMarkets 2Health News:Proteomics Market Worth $20,696.4 Million by 2018 - New Report By MarketsandMarkets 3Health News:Proteomics Market Worth $20,696.4 Million by 2018 - New Report By MarketsandMarkets 4Health News:Better use of electronic health records makes clinical trials less expensive 2Health News:VisitandCare.com Reports Increase in Cosmetic and Hair Transplant Procedures for Men 2Health News:VisitandCare.com Reports Increase in Cosmetic and Hair Transplant Procedures for Men 3Health News:Promotion for Kids Prom Dresses Now Provided at Fadhits.com 2Health News:'Expressive therapy" intervention assists women living with HIV 2
... , MILLERSVILLE, Md., June 2 Travel Advantage Network ... spring morning to support the National Alliance for Research ... kilometers of it. , , (Photo: http://www.newscom.com/cgi-bin/prnh/20090602/DC26325 ) ... support the charity by completing a 2.5K sponsored walk at ...
... Royal Philips Electronics (NYSE: ... Trilogy100 portable at-home life-support ventilator. The highly versatile, ... milestone in home ventilation from a recognized leader in ... for noninvasive ventilation nearly 20 years ago. , ...
... 2 More than 17 million U.S. children live more ... a life-saving pediatric trauma center, according to a new study ... University of Pennsylvania . The creation of a national ... locations of gaps and greatly improve access to care for ...
... new procedure , TUESDAY, June ... involves sewing together the sides of the stomach holds ... suggest preliminary findings from a clinical trial. , The ... the stomach from relaxing to accept food. This reduces ...
... Pa., June 2 Governor Edward G. Rendell ... the Lottery-funded PACENET prescription drug benefit for older Pennsylvanians, providing ... no drug coverage now. , , "As older ... times, providing comprehensive prescription medication coverage is more important than ...
... Monitor for pest control operators helps control bed bug ... BioSensory, Inc., manufacturer of environmentally-sensitive pest management products ... insects, announces the release of its NightWatch(TM) Bedbug Monitor ... to use to detect bed bug infestations at the ...
Cached Medicine News:Health News:A Little Bit of Leg Work Goes a Long Way for Travel Advantage Network and Mental Health Charity 2Health News:Photos: Philips Expands Home Healthcare Commitment With Portable Life-Support Ventilator; Offers Ease of Use, Portability and Versatility for Patient 2Health News:Photos: Philips Expands Home Healthcare Commitment With Portable Life-Support Ventilator; Offers Ease of Use, Portability and Versatility for Patient 3Health News:17 Million U.S. Children Live More Than an Hour Away From Trauma Care 2Health News:17 Million U.S. Children Live More Than an Hour Away From Trauma Care 3Health News:Weight-Loss Surgery Simplified 2Health News:Governor Rendell Proposes Offering Prescription Help to 30,000 More Older Adults as Part of Plan to Save $60 Million 2Health News:New Product Detects Early Bed Bug Infestations 2Health News:New Product Detects Early Bed Bug Infestations 3
(Date:7/10/2014)... -- CVS Caremark Corporation (NYSE: CVS ) today ... dividend of $0.275 (27.5 cents) per share on the corporation,s ... to holders of record on July 21, 2014. ... to helping people on their path to better health as ... States . Through the company,s more than 7,600 CVS/pharmacy ...
(Date:1/15/2014)... Jan. 15, 2014 /PRNewswire-iReach/ -- ChinaMarketResearchReports.com adds "China Orthopedic ... . (Photo: http://photos.prnewswire.com/prnh/20140115/MN46792 ) ... policy support, China,s orthopedic instrument ... total market size rising from 3.28 billion yuan in ...
(Date:1/15/2014)... Jan. 15, 2014 As health officials across the Midwest ... Meijer pharmacies in Michigan will offer ... patients, enabling Meijer pharmacists to administer tests and, in some ... a physician participating in the study. The ...
Breaking Medicine Technology:Orthopedic Instrument Industry in China Markets Forecast to 2015 2Orthopedic Instrument Industry in China Markets Forecast to 2015 3Meijer Pharmacy Offers Free Flu, Strep Testing as Influenza Cases Rise Across the Midwest 2Meijer Pharmacy Offers Free Flu, Strep Testing as Influenza Cases Rise Across the Midwest 3
... a voluntary nationwide recall of the three lots listed below of the following product: ... l oi de Injection , USP, 0 . ... V i alsN DC# 0 5 1 ... recall, initiated on March 15, 2011 to the User Level, is for the following lots of ...
... Kinetics, Inc. (NKI) ( www.neuro-kinetics.com ), manufacturers of ... testing, said today that it will showcase its ... with the military to develop earlier diagnosis of ... Awareness Day on Capitol Hill in Washington, D.C. ...
Cached Medicine Technology:American Regent Initiates Voluntary Nationwide Recall of Bacteriostatic Sodium Chloride Injection, USP, 0.9% 30 mL Multiple Dose Vials 2American Regent Initiates Voluntary Nationwide Recall of Bacteriostatic Sodium Chloride Injection, USP, 0.9% 30 mL Multiple Dose Vials 3Neuro Kinetics to Showcase I-Portal® Research at Brain Injury Awareness Day on Capitol Hill 2
Adson bipolar forceps, 12 cm, straight....
Straight, blunt and pointed tips....
Angulated, blunt and pointed tips....
Blunt, 20 cm long....
Medicine Products: