Navigation Links
Diagnostic criteria for Christianson Syndrome
Date:7/21/2014

other found that 1 in 19 families with a case of ID exhibited a mutation that truncated the NHE6 protein.

"If we assume that between 1-3 percent of the world's population is diagnosed with an intellectual disability and approximately 10-20 percent of the causes are due to X-linked genes, then we can estimate that CS may affect between 1 in 16,000 to 100,000 people," Morrow and his co-authors wrote. Worldwide that frequency would add up to more than 70,000 cases.

Relevance to autism, epilepsy

In a paper published last year, Morrow's research group found that NHE6 is underexpressed in the brains of many children with more general forms of autism. This potential connection suggests that learning about CS can help doctors and scientists learn about autism.

Similarly by studying the regression of walking and verbal skills among Christianson boys, Morrow said researchers could learn more about regressions in autism.

"Christianson syndrome, I hope will be a model," Morrow said. "If we could understand the biological mechanism that leads to that loss, and we can prevent it, by developing a treatment, then these kids will remain further ahead."

Such advances will require much more study, but Morrow said that by uncovering a variety of mutations that all lead to the disease, the study provides a wealth of new information for that work.

"We can now study these different mutations and learn how this protein works by how it gets inactivated," he said. "All the different ways it gets inactivated can actually inform us about the different components of the protein that have an important function."


'/>"/>

Contact: David Orenstein
david_orenstein@brown.edu
401-863-1862
Brown University
Source:Eurekalert  

Page: 1 2 3

Related biology news :

1. New diagnostic test to distinguish psoriasis from eczema
2. Cholesterol study suggests new diagnostic, treatment approach for prostate cancer
3. NIST cell membrane model studied as future diagnostic tool
4. Eurofins and Orion Diagnostica Oy enter into an agreement on Orions proprietary SIBA technology
5. Bruin Biometrics, LLC Awarded CE Mark for the SEM Scanner, an Innovative Diagnostic Tool to Detect Pressure Induced Tissue Damage
6. Scientists creating new diagnostic and bioinformatics tools for psychotic disorders
7. Frost & Sullivan: Diagnostic and Therapeutic Potential of microRNAs Stimulate Need for More Research Tools
8. Potential diagnostic marker for zinc status offers insights into the effects of zinc deficiency
9. MicroRNAs have diagnostic and prognostic potential in urinary bladder cancer
10. CWRU grants Disease Diagnostic Group option on malaria diagnostic device
11. Philips CX50 xMATRIX now offers world-class interventional and diagnostic features on single portable system
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Diagnostic criteria for Christianson Syndrome
(Date:9/16/2014)... vital functions in an organism. For example, they ... and control immune system responses. Researchers established some ... of each other, but instead form complex networks. ... find many similarities with online social networks," says ... Systems Biology. "Some proteins are good networkers that ...
(Date:9/16/2014)... season of bounty. Fungi of dizzying variety erupt from ... search of elusive but delectable wild mushrooms. Part of ... hunt, and their mysterious not-quite-meat, not-quite-vegetable qualities that belie ... you are eating known to science? , The Fungi ... some estimates range up to 10 million species, only ...
(Date:9/15/2014)... mechanical solution to avoid chromosome sorting errors, researchers ... Express. , This natural safeguard prevents ... infertility, miscarriage, or congenital conditions. , "Mistakes ... what exactly goes wrong is often not understood," ... for Cell Biology at the University of Edinburgh ...
Breaking Biology News(10 mins):Good networkers make prime targets 2What's for dinner? Rapidly identifying undescribed species in a commercial fungi packet 2What's for dinner? Rapidly identifying undescribed species in a commercial fungi packet 3Cells simply avoid chromosome confusion 2Cells simply avoid chromosome confusion 3
... to lose weight or has osteoporosis: Scientists from Maine are ... revolutionize how we treat these two conditions. In a new ... The FASEB Journal , the researchers describe a newly ... bone mass. Then they manipulated how much of this protein ...
... State University shows that a species of shellfish widely consumed ... increased in size, despite and possibly because of ... indicates that human activity does not necessarily mean that there ... even a species that people relied on as a ...
... with Americans, love affair with salt may yield more insight into ... them. A team of scientists from the Medical College of ... San Antonio is looking at how the kidneys know you,ve eaten ... work is funded by a $11.2 million National Institutes of Health ...
Cached Biology News:Scientists discover new protein that gets to the roots of obesity and osteoporosis 2Archaeological study shows human activity may have boosted shellfish size 2System for eliminating salt may point to new antihypertensives 2System for eliminating salt may point to new antihypertensives 3
(Date:9/15/2014)... carbon nanotubes is neat, but Rice University scientists are making ... new fibers created at Rice line up like a fistful ... Mart and his colleagues. , The tricky bit, according to ... journal ACS Nano , is keeping the densely packed ... Left to their own devices, carbon nanotubes form clumps that ...
(Date:9/15/2014)... 15, 2014 Bioptigen announced ... OCT system for the optical device metrology and pre-clinical ... S4410 SDOCT for Contact Lens Metrology is designed ... high complexity contact lens, IOL structures, and donor tissues. ... complete contact lens immersed in a hydration bath (saline), ...
(Date:9/15/2014)... 15, 2014  iVinci Health LLC, the company behind ... Management system, branded as VisitPay®, has successfully closed $5 ... launch of a new extension to VisitPay® – an ... and convenient way for patients to manage their medical ... them and their families. The new round ...
(Date:9/15/2014)... The chemistry, taste, and health effects of tea ... published by the nonprofit American Botanical Council (ABC). Recent research ... its effects on the phytochemical compounds in tea ( Camellia ... Dr. Ahmed in the Yunnan province ... for the future of medicinal botanicals. Dr. Ahmed,s report ...
Breaking Biology Technology:Rice rolls 'neat' nanotube fibers 2Rice rolls 'neat' nanotube fibers 3Bioptigen Introduces Deep Imaging OCT System for Contact Lens Metrology 2iVinci Health Raises $5M to Fuel National Expansion, Announces Launch of Personal Finance Portal for Healthcare 2iVinci Health Raises $5M to Fuel National Expansion, Announces Launch of Personal Finance Portal for Healthcare 3Tea Taste and Quality Affected by Climate Change 2Tea Taste and Quality Affected by Climate Change 3Tea Taste and Quality Affected by Climate Change 4
... announces that a new market research report is ... Adds Global Top 10 Biotechnology Companies -- Industry, ... http://www.reportlinker.com/p0155124/Reportlinker-Adds-Global-Top-10-Biotechnology-Companies----Industry-Financial-and-SWOT-Analysis.html ... Companies Report: Strategic evaluation of industry and key ...
... October 16 , - New ... Brain Science and Used by the National Institutes of,Health, Will ... Elsevier, the leading publisher of scientific, ... showcase the new,features it is rolling out for its BrainNavigator ...
... Texas A team of scientists, led by a biomedical ... for the first time that mathematical models created ... correctly predict previously unknown cellular mechanisms. This brings biologists a ... control the inner workings of the cell as readily as ...
Cached Biology Technology:Reportlinker Adds Global Top 10 Biotechnology Companies -- Industry, Financial and SWOT Analysis 2Reportlinker Adds Global Top 10 Biotechnology Companies -- Industry, Financial and SWOT Analysis 3Reportlinker Adds Global Top 10 Biotechnology Companies -- Industry, Financial and SWOT Analysis 4Reportlinker Adds Global Top 10 Biotechnology Companies -- Industry, Financial and SWOT Analysis 5Elsevier's BrainNavigator Research Tool to Launch new Features at Neuroscience 2009 Show 2Elsevier's BrainNavigator Research Tool to Launch new Features at Neuroscience 2009 Show 3Elsevier's BrainNavigator Research Tool to Launch new Features at Neuroscience 2009 Show 4Elsevier's BrainNavigator Research Tool to Launch new Features at Neuroscience 2009 Show 5Scientists use math modeling to predict unknown biological mechanism of regulation 2
... Cell Identification Kit. ALDEFLUORs ... substrate for the enzyme ... is highly expressed in ... making ALDH an extremely ...
... The MetaVue Imaging System is the cost-effective ... With commands tailored to common research imaging ... morphometric analysis and simple image analysis. ... control library means that MetaVue has the ...
Sterile, Cell culture tested...
... have been many modifications to the original formulas ... solutions still play an important role in tissue,culture. ... pH and osmotic balance in the medium and ... inorganic ions, is as valuable today as when ...
Biology Products: