Navigation Links
Researchers at Cruces Hospital describe new syndrome of slight family intellectual disability
Date:9/26/2011

these tests and with a family history, the scientists decided to continue the research.

At this point the exploration of other genes on the X chromosome became necessary, a task which was able to be carried out thanks to two research projects initiated by the Basque Foundation for Health Innovation and Research, employing the income obtained from the telemarathon solidarity events of the Basque Public Broadcasting Corporation some years ago and which was channelled into research into limited intellectual disability and rare diseases.

The team led by Isabel Tejada then decided to apply a technique known as CNV (copy number variants), "observing deletions and duplications of the genome not visible with the microscope". To this end, "we used a a technique known as MLPA (Multiplex ligation-dependent probe amplification) involving a number of probes or fragments of the genome we wished to analyse, given that there had been three known similar cases with the common factor of maternal inheritance. To our surprise we spotted a duplication of a very small region, hitherto undescribed, and which contained 7 genes of which only one - the RPS6KA3 is related to mental retardation", pointed out the geneticist.

Nevertheless, mutations in this gene produce another type of syndrome which was not the case in this patient. "This fact made us think that we had something novel in front of us and that, as happens with other syndromes, the duplication of the gene or genes produces a pathological effect opposite to and/or different from isolated deletions or mutations, given that it is not the deficiency of one or various proteins, but their over-expression, that produces the pathological effect".

Finally, the hypothesis was tested "with other, complementary tests, such as CGH (comparative genomic hybridisation) arrays and studies of messenger RNA and protein expression".


'/>"/>

Contact: Oihane Lakar
o.lakar@elhuyar.com
0034-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

Page: 1 2

Related biology news :

1. UCLA researchers develop system that finds prostate cancer spread earlier than conventional imaging
2. Joslin researchers identify pathways leading to activation of good fat
3. Kansas researchers find enriched infant formulas benefit brain and heart
4. Researchers sequence dark matter of life
5. Researchers discover a switch that controls stem cell pluripotency
6. MU researchers unveil new method for detecting lung cancer in Nature article
7. Notre Dame researchers demonstrate antibiotic sensing event central to MSRA antibiotic resistance
8. Researchers uncover a potential new benefit of pure maple syrup on liver health
9. EPA grants help Wayne State researchers stave off Great Lakes environmental invaders
10. UTHealth, BCM researchers find common gene variant associated with aortic dissection
11. Researchers find high levels of toxic PCBs in Indiana Harbor and Ship Canal
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/16/2014)... is associated with increased rates and intensity of tobacco ... the relationship between schizophrenia and smoking stems, in part, ... self-medicate symptoms and cognitive impairment associated with the disease. ... of Biological Psychiatry , sheds light on this ... receptors in the brain was lower in schizophrenia patients ...
(Date:9/16/2014)... responsible for practically all vital functions in an ... signals, transport particular substances and control immune system ... do not function independently of each other, but ... the protein networks, you find many similarities with ... TUM,s Chair of Plant Systems Biology. "Some proteins ...
(Date:9/15/2014)... Human skin and gut microbes influence processes from digestion ... are the most biodiverse terrestrial ecosystems on the planet, ... trees in the tropics. Smithsonian scientists and colleagues working ... samples from a single tree were home to more ... from 57 tree species contained more than 7,000 different ...
Breaking Biology News(10 mins):Smoking and schizophrenia linked by alterations in brain nicotine signals 2Good networkers make prime targets 2Smithsonian scientists discover tropical tree microbiome in Panama 2
... enemy of the good, but in the nanoscale world, perfection can ... world, engineers and scientists go to great lengths to make the ... a light switch or turn the key on the car, we ... every time, with only rare exceptions. They have done so by ...
... (President Ryoji Noyori) and the Max Planck Society (MPG; ... 2011, to strengthen their collaboration by ,establishing a joint ... seeks to ,achieve a systematic understanding of biological systems ... research center will bring together the RIKEN Advanced Science ...
... that parents can fill out in pediatrician waiting rooms may ... disorder (ASD) , according to a study funded by the ... of Pediatrics , the study,s design also provides a model ... change to their practice. "Beyond this exciting proof of ...
Cached Biology News:Nanotechnologists must take lessons from nature 2Nanotechnologists must take lessons from nature 35-minute screen identifies subtle signs of autism in 1-year olds 2
(Date:9/16/2014)... , Sept. 16, 2014  Ascendis Pharma A/S, ... technology to address significant unmet medical needs, today ... 2 pediatric study to evaluate once-weekly TransCon Growth ... GHD.  The full interim results will be presented ... and IGF Society, being held October 15-18, 2014, ...
(Date:9/16/2014)... September 16, 2014 BCC Research ... FOR STEM CELLS , the global market for stem ... by 2018, with a five-year compound annual growth rate ... in the Americas with growth projections of $2.2 billion ...      (Logo: http://photos.prnewswire.com/prnh/20140805/700528) , Unlike other potential ...
(Date:9/16/2014)... 2014 RENU 28, the world's first and ... available for purchase in Australia and New Zealand in mid-August ... September 16th. The tour will make stops in Brisbane on ... the 18th, Sydney on the 20th, and Melbourne on the ... New Zealand and to educate people about the new product ...
(Date:9/15/2014)... , Sept. 15, 2014   Global Science ... of scientific products and services for satellite and ... Solution for Integrated Services (OASIS) from the General ... was selected to provide the government best-value solutions ... Business (SB) category in Pool 4. The OASIS ...
Breaking Biology Technology:Ascendis Pharma A/S Announces Positive Interim Results from a Phase 2 Pediatric Study of Once-Weekly TransCon Growth Hormone for the Treatment of Growth Hormone Deficiency 2Ascendis Pharma A/S Announces Positive Interim Results from a Phase 2 Pediatric Study of Once-Weekly TransCon Growth Hormone for the Treatment of Growth Hormone Deficiency 3Ascendis Pharma A/S Announces Positive Interim Results from a Phase 2 Pediatric Study of Once-Weekly TransCon Growth Hormone for the Treatment of Growth Hormone Deficiency 4Global Market for Stem Cells to Reach $10.6 Billion in 2018; The Americas Growing at 13.9% CAGR 2Global Market for Stem Cells to Reach $10.6 Billion in 2018; The Americas Growing at 13.9% CAGR 3Global Wellness Company Hosts ASEA Australia Tour September 16-22 2Global Science & Technology, Inc. Awarded GSA OASIS Small Business Contract 2Global Science & Technology, Inc. Awarded GSA OASIS Small Business Contract 3
... Biomerica,Inc. (OTC Bulletin Board: BMRA) has introduced a ... announced that it received CE mark approval to,market and ... in,the European Union. The product will be marketed under ... people in the U.S. are allergic to cat dander,the ...
... 18 Forest Laboratories, Inc.,(NYSE: FRX ) and ... the novel beta,blocker Bystolic(TM) (nebivolol) was approved by the ... hypertension. Bystolic is a once,daily medication that can be ... affects approximately 72 million,adults in the U.S. and 65 ...
... Using the latest methods for nanofabrication, a team led ... electronic property in one of the earliest-known and most-studied ... magnetite. , By changing the voltage in their experiment, ... than minus 250 degrees Fahrenheit to revert from an ...
Cached Biology Technology:Biomerica Introduces a New 15 Minute Home Test for Allergies to Cats and Receives CE Mark Approval for Home Use 2Bystolic(TM), a Novel Beta Blocker, is Now Approved by the FDA for the Treatment of Hypertension 2Bystolic(TM), a Novel Beta Blocker, is Now Approved by the FDA for the Treatment of Hypertension 3Bystolic(TM), a Novel Beta Blocker, is Now Approved by the FDA for the Treatment of Hypertension 4Bystolic(TM), a Novel Beta Blocker, is Now Approved by the FDA for the Treatment of Hypertension 5New property found in ancient mineral lodestone 2
... clone d1-174 GenBank Accession Number : ... N-terminal tagged fusion protein corresponding to full ... Tris-glycine, pH 7.4, 0.15M NaCl, 0.05% sodium ... 30% Quality Assurance: routinely evaluated by immunoblot ...
...
X-Gal, 1 g. 5-Bromo-4-chloro-3-indolyl-b-d-galactoside.Histochemical substrate for b-galactosidase, used in blue/white screening.Store at -20 C. Protect from moisture. Category: Nucleotides & Enzymes...
Conjugation services for Antibodies, Proteins, Oligos, Peptides, Beads, bioconjugation, antibody-oligonucleotide, LNA peptide, LNA protein, LNA antibody, HRP, Alkaline phosphatase, phycoerythrin, FIT...
Biology Products: