Navigation Links
Developmental delay could stem from nicotinic receptor deletion
Date:11/8/2009

fficient expression of the nicotinic receptor causes most or all of the problems associated with deletions in this particular area of chromosome 15, then it offers a target for drug treatment," said Stankiewicz. One such drug mentioned in the paper is Chantix, a medicine now used in smoking cessation efforts.

In this study, an international group of researchers identified 10 people from four unrelated families with the same deletion in the chromosome. The area deleted encompasses all of CHRNA7, which encodes a whole subunit of the nicotinic receptor.

Nine of the 10 subjects had developmental delay and/or mental retardation. Four of the 10 had seizure disorders or an abnormal electroencephalogram (EEG).

In two of the families studied, the patients had inherited the deletion from a parent. In one family, researchers found the same deletion in the patient's mother, two siblings, maternal aunt and maternal grandmother. Both the patient's mother and her sister had mental retardation and epilepsy. His both siblings had developmental delay. The patient had severe mental retardation and obesity and mild facial dysmorphism.

A second patient with impaired growth and severe developmental delay inherited her deletion from her mother, who had normal intelligence but had suffered from epilepsy from childhood.


'/>"/>

Contact: Glenna Picton
picton@bcm.edu
713-798-4710
Baylor College of Medicine
Source:Eurekalert

Page: 1 2

Related biology news :

1. Genetic marker linked to problem behaviors in adults with developmental disabilities
2. Specific genetic cause of fetal alcohol-related developmental disorders found
3. Mouse model provides a new tool for investigators of human developmental disorder
4. Carnegies Donald Brown receives lifetime achievement award from Society for Developmental Biology
5. Digital zebrafish embryo provides the first complete developmental blueprint of a vertebrate
6. Thumbs up -- a tiny ancestral remnant lends developmental edge to humans
7. IVF does not increase risk of developmental disorders in children
8. Pediatricians alerted to the developmental nature of underage drinking in special journal supplement
9. RNA-based methods for developmental studies are featured in Cold Spring Harbor Protocols
10. Research pioneer in the developmental origins of psychiatric illness is awarded the Sackler prize
11. Researchers find association between food insecurity and developmental risk in children
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/27/2014)... University of Utah biologist agan Sekercioglu, who campaigns to ... nation,s highest science prize, which is similar to the ... five researchers picked for 2014 the top awards by ... Three researchers won the Science Award and two ... equivalent to the Science Award but for scientists who ...
(Date:8/27/2014)... entering what is described by the Volunteer Wildfire Services ... Eastern Cape provincial government warned residents in certain parts ... and veld fires. A high veld fire danger ... the coast in the Great Kei and Mnquma area. ... during thunderstorms. The thunderstorms bring lightning strikes and ...
(Date:8/27/2014)... is available in German . ... the most common inherited disease affecting the peripheral nervous ... Max Planck Institute of Experimental Medicine and University Medical ... cells is impaired in rats with the disease. These ... known as myelin, which facilitates the rapid transfer of ...
Breaking Biology News(10 mins):University of Utah biologist wins Turkey's top science prize 2Potential therapy for incurable Charcot-Marie-Tooth disease 2
... advice twice is enough for patients to get the significant ... by doctors at St. Michael,s Hospital and the University of ... take their health into their own hands," said Dr. David ... the hospital,s Risk Factor Modification Centre. Dr. Jenkins is also ...
... same University of Washington researcher who used chemical sleuthing ... turned her attention to the scented air wafting from ... the journal Air Quality, Atmosphere and Health, ... scented liquid laundry detergent and scented dryer sheet contains ...
... M M E D I A T E ... Medicine Journal Stem cells derived from human amniotic fluid hold ... Tampa, Fla. (Aug. 24, 2011) Two papers published ... on-line at http://www.ingentaconnect.com/content/cog/ct/ , highlight the rich source of stem cells ...
Cached Biology News:No need to nag: study finds doctors' nutrition advice hits home early 2Scented laundry products emit hazardous chemicals through dryer vents 2Stem cells derived from human amniotic fluid hold promise 2Stem cells derived from human amniotic fluid hold promise 3
(Date:8/27/2014)... , Aug. 27, 2014 Reportbuyer.com has ... The Graphene Opportunity - A Rational View ... The New Nanotech? A similar amount of ... applications ranging from microelectronics to water treatment, but ... the availability of the Graphene Opportunity Report, authored ...
(Date:8/27/2014)... 27, 2014 Tris Pharma, a specialty pharmaceutical ... announced that it has been selected as an award ... 2014 Awards for Excellence competition in the ... panel of judges from SCORE (Counselors to America,s Small ... be honored at a gala event to be held ...
(Date:8/27/2014)... Remcom announces an update to XFdtd® ... the biomedical industry. The central biomedical addition in ... to the Bio-Pro version of the software. XFdtd ... calculate the biological effects of electromagnetic fields. In ... versions to expand engineers’ post-processing options. , The Biological ...
(Date:8/26/2014)... WA (PRWEB) August 26, 2014 ... for next-generation wearable technology, and inspiration for the ... at this year’s brighter, busier SPIE Optics ... Convention Center. More than 4,400 international scientists, engineers, ... courses, an exhibition, and industry sessions sponsored by ...
Breaking Biology Technology:The Graphene Opportunity - A Rational View 2The Graphene Opportunity - A Rational View 3The Graphene Opportunity - A Rational View 4Tris Pharma Selected as an award winner in the New Jersey Business & Industry Association's 2014 Awards for Excellence 2Remcom Announces Enhanced Biological Thermal Sensor and Other Biomedical Features in XFdtd EM Simulation Software Update 2Remcom Announces Enhanced Biological Thermal Sensor and Other Biomedical Features in XFdtd EM Simulation Software Update 3Brighter, Busier SPIE Optics + Photonics Draws International Crowd to San Diego 2Brighter, Busier SPIE Optics + Photonics Draws International Crowd to San Diego 3Brighter, Busier SPIE Optics + Photonics Draws International Crowd to San Diego 4
... Imaging Diagnostic,Systems, Inc., (OTC Bulletin Board: IMDS), a ... recent study on CTLM is one of the featured,scientific ... Dr. Jin Qi,a radiologist at the Tianjin Medical ... her paper, "CTLM as an Adjunct to Mammography,in the ...
... strong pipeline makes the,Copenhagen Region biotech cluster well prepared for ... development, Denmark,ranks third in Europe. Only United Kingdom and Germany ... Also in term of pipeline growth Denmark has a ... countries in Europe. , ...
... 1 Collexis Holdings, Inc.,(OTC Bulletin Board: ... and,knowledge discovery software, announced today a partnership ... promote BiomedExperts.com,to the association,s 200+ membership base. ... primary professional network for,BioFlorida, helping to facilitate ...
Cached Biology Technology:Imaging Diagnostic Systems CT Laser Mammography (CTLM(R)) System Featured at the 94th Annual Radiological Society of North America (RSNA) Conference 2Imaging Diagnostic Systems CT Laser Mammography (CTLM(R)) System Featured at the 94th Annual Radiological Society of North America (RSNA) Conference 3Ernst & Young Benchmarks Danish Biotech Pipeline Third in Europe 2BioFlorida Selects Collexis' BiomedExperts.com as the Primary Professional Network for its 200 Member Companies and Organizations 2BioFlorida Selects Collexis' BiomedExperts.com as the Primary Professional Network for its 200 Member Companies and Organizations 3BioFlorida Selects Collexis' BiomedExperts.com as the Primary Professional Network for its 200 Member Companies and Organizations 4
NuParaffin Kit Application: Flow Cytometry Reactivity: Human...
Anti-hamster Ig HRP detection kit...
...
ChIP-GLAS kit for H10K-B microarray chips. Contains ChIP kit, GLAS kit, and hybridization kit. Additional reagents are required. Please see manual for details. Contains sufficient reagent for 20 reac...
Biology Products: