Navigation Links
Researchers find new gene mutation associated with congenital myopathy
Date:7/25/2012

y whole exome capture and next generation sequencing in a family with congenital myopathy. They then validated the gene mutation and provided insights into the disease pathomechanisms using the zebrafish model system.

Dowling says the researchers' next step is to further model the disease using zebrafish, in the hopes that this knowledge can be translated into therapy development.

"The study provides the first descriptions of the zebrafish model, and gives insight into how we will use it," says Dowling, who also is director of the Pediatric Neuromuscular Disorders Clinic at C.S. Mott Children's Hospital.

"Once we develop and characterize a model of the disease, we can then use it as a platform for therapy development."


'/>"/>
Contact: Mary F. Masson
mfmasson@umich.edu
734-764-2220
University of Michigan Health System
Source:Eurekalert

Page: 1 2

Related biology news :

1. Study by UC Santa Barbara researchers suggests that bacteria communicate by touch
2. UC Santa Barbara researchers discover genetic link between visual pathways of hydras and humans
3. Researchers attempt to solve problems of antibiotic resistance and bee deaths in one
4. UNH researchers find African farmers need better climate change data to improve farming practices
5. Ottawa researchers to lead world-first clinical trial of stem cell therapy for septic shock
6. Researchers uncover molecular pathway through which common yeast becomes fungal pathogen
7. Researchers print live cells with a standard inkjet printer
8. Columbia Engineering and Penn researchers increase speed of single-molecule measurements
9. Researchers reveal how a single gene mutation leads to uncontrolled obesity
10. Researchers discover novel therapy for Crohns disease
11. New paper by Notre Dame researchers describes method for cleaning up nuclear waste
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/20/2014)... the University of Tbingen, Arizona State University, the Wellcome ... Health Institute (Swiss TPH) isolated Mycobacterium pinnipedii ... 1000 years old. The pathogen is a relative of ... causes disease in humans today. These researchers assume that ... coast. "The link to sea lions was unexpected" comments ...
(Date:8/20/2014)... Using population-based screening outcomes of approximately 3 million ... four researchers at the University of Massachusetts Medical School, ... (SCID) can be successfully implemented across public health newborn ... in the Aug. 20 issue of the Journal ... showed the rate of SCID in newborns is higher ...
(Date:8/20/2014)... has awarded the Oklahoma Medical Research Foundation a five-year, ... and the bacteria,s effects on humans. , For ... colleagues have studied the human immune response to anthrax ... Immunology. The original funding came soon after anthrax-laced letters ... the terrorist attacks of Sept. 11, 2001. , ...
Breaking Biology News(10 mins):Newborn screening expansion offers early diagnosis and treatment to infants with SCID 2Newborn screening expansion offers early diagnosis and treatment to infants with SCID 3$14.5 million grant awarded to continue anthrax studies 2
... German . Soil is the most species-rich ... specifically choose certain species, give them access to the root ... which they then benefit in a variety of ways. To ... tell which of these bacteria are friends and which foes. ...
... very low frequency sounds, with pitches below the range ... travel several kilometers, and provide elephants with a "private" ... complex social life. Their frequencies are as low as ... the sounds themselves have been studied for many years, ...
... have demonstrated in the laboratory that a new drug is ... it will be a few years before it becomes available ... UCSB and a biotech firm based in Indiana. The study ... Society of Nephrology . Over 600,000 people in the ...
Cached Biology News:Bacterial community inside the plant root 2Bacterial community inside the plant root 3Mystery of elephant infrasounds revealed 2New drug shows promise for kidney disease 2New drug shows promise for kidney disease 3
(Date:8/21/2014)... , Aug. 21, 2014  Four-dimensional (4-D) printing ... based on external stimuli such as changes in ... a disruptive effect in multiple industries.  In the ... landscape by printing objects ranging from human organs ... sectors. Logo - http://photos.prnewswire.com/prnh/20140820/138289 ...
(Date:8/21/2014)... 21, 2014 On Wednesday of last week ... use Redox Signaling molecules, became available for purchase in Australia ... "The way that RENU 28 works is, if you think ... of the rate of cellular renewal within your body. If ... of that rate of cellular renewal. What RENU 28 does ...
(Date:8/20/2014)... PLANTATION, Fla. , Aug. 20, 2014 /PRNewswire/ ... it will host a conference call to provide ... 26, 2014Time:4:30 p.m. Eastern daylight timeDial-in numbers:(888) 505-4369 ... number: 9126599 Live web cast: www.neurotropebioscience.com , under ... three hours after completion through September 2, 2014 ...
(Date:8/20/2014)... August 20, 2014 Not long ago, ... studies should be performed late in the development cycle ... But current regulatory trends suggest that, like many things ... rise. In recent years, multiple drug sponsors have been ... address specific questions during phase I/II. It’s not only ...
Breaking Biology Technology:Frost & Sullivan: 4-D Printing to Usher in Age of Low-Labor, Fast-Paced Product Manufacturing 2Frost & Sullivan: 4-D Printing to Usher in Age of Low-Labor, Fast-Paced Product Manufacturing 3Frost & Sullivan: 4-D Printing to Usher in Age of Low-Labor, Fast-Paced Product Manufacturing 4RENU 28 Skin Care Now Available in Australia and New Zealand 2Neurotrope To Host Conference Call 2Are Extractable and Leachables going Phase-Appropriate? New Webinar Hosted by Xtalks 2
... and NORTH BRUNSWICK, New Jersey, September 14, Rosetta ... in,the development of microRNA-based diagnostics and therapeutics, announced,today ... at Maxim,Group,s Growth conference on Thursday, September 20, ... in New York. A live audio webcast ...
... Boston Scientific,Corporation (NYSE: BSX ) ... 15,000 patients(1) monitored wirelessly on the LATITUDE(R) ... industry,s largest,experience with wireless remote monitoring of ... can detect clinical events between,scheduled follow-up visits ...
... N.J., Sept. 14 Palatin,Technologies, Inc. (Amex: PTN ) ... June 30, 2007. Palatin reported a net loss of,$6.1 million, ... ended,June 30, 2007, compared to a net loss of $7.9 ... period in 2006. Total revenues in the,quarter ended June 30, ...
Cached Biology Technology:Rosetta Genomics to Webcast Presentation at Maxim Group Growth Conference 2Boston Scientific Releases Remote Monitoring Data from its Wireless LATITUDE(R) Patient Management System 2Boston Scientific Releases Remote Monitoring Data from its Wireless LATITUDE(R) Patient Management System 3Boston Scientific Releases Remote Monitoring Data from its Wireless LATITUDE(R) Patient Management System 4Palatin Technologies, Inc. Reports Fourth Quarter and Fiscal Year End 2007 Results; Teleconference and Webcast to be held on September 18, 2007 2Palatin Technologies, Inc. Reports Fourth Quarter and Fiscal Year End 2007 Results; Teleconference and Webcast to be held on September 18, 2007 3Palatin Technologies, Inc. Reports Fourth Quarter and Fiscal Year End 2007 Results; Teleconference and Webcast to be held on September 18, 2007 4Palatin Technologies, Inc. Reports Fourth Quarter and Fiscal Year End 2007 Results; Teleconference and Webcast to be held on September 18, 2007 5Palatin Technologies, Inc. Reports Fourth Quarter and Fiscal Year End 2007 Results; Teleconference and Webcast to be held on September 18, 2007 6Palatin Technologies, Inc. Reports Fourth Quarter and Fiscal Year End 2007 Results; Teleconference and Webcast to be held on September 18, 2007 7Palatin Technologies, Inc. Reports Fourth Quarter and Fiscal Year End 2007 Results; Teleconference and Webcast to be held on September 18, 2007 8
...
... Anti-HMGN2/HMG-17 Immunogen : ... Tris-glycine, pH7.4, 5mg/ml BSA, 0.15M ... the addition of glycerol to ... by immunoblot on acid extracts ...
...
... different human fetal normal tissues are ... upon request. Customers can choose ... set, and pay 70% of the ... P Set products are for research ...
Biology Products: