|
| |
AAAS
| Symbol: | AAAS | | Name(s): | achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, DKFZp586G1624, GL003 | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
BioGPS,
Map Viewer.
|
Gene Information from Publications |
| Publication Link |
Summary of findings |
| 15217518 |
In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction. |
| 15022193 |
myoclonus and generalized digestive dysmotility in triple a syndrome is connected to AAAS gene mutation |
| 16543750 |
The mutation of the AAAS gene is a novel mutation and this case adds to the clinical and molecular spectrum of triple A syndrome and may provide a new insight into the functions of AAAS gene. |
| 16938764 |
novel homozygous mutation within intron 5 (IVS5+1G-->A) illustrates the heterogenous nature and the intrafamilial phenotypic variability of Allgrove syndrome |
| 12730363 |
plays a cell type-specific role in regulating nucleocytoplasmic transport and that this function is essential for the proper maintenance andor development of certain tissues; NPC targeting is essential for the function of ALADIN |
| 16022285 |
novel splice variant AAAS-v2 encodes a 513-amino acid polypeptide, which contains three WD40 domains; AAAS-v2 and AAAS-v1 were ubiquitously detected in human tissues |
| 15680696 |
Widespread but not ubiquitous or uniform expression of AAAS mRNA in the developing rat embryo. |
| 15666842 |
Further studies have to investigate the role of ALADIN at NPCs and to identify interacting proteins. Functional analyses of ALADIN may permit further understanding of its role for adrenocortical function and neurodevelopment. |
| 11815731 |
a homozygous G -->A transition in exon 9 of the newly identified AAAS gene, resulting in a stop codon (W295X) and predicting a truncated protein with loss of function |
| 15843079 |
Data do not support a pathogenetic role for common AAAS gene mutations in patients with idiopathic achalasia as seen in Allgrove syndrome. | →View more information from publications. |
Recent Publications on AAAS: |  |
Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism.
Triple A syndrome is a rare autosomal recessive disorder characterized by... | 27th October, 2009
| Centre for Endocrinology (H.L.S., D.A.P., J.P.C., A.J.L.C.), William
| Mol Endocrinol. 2009 Oct 23.
DOI Direct Link |
Endovascular stents for abdominal aortic aneurysms: a systematic review and economic model.
OBJECTIVE: To determine the clinical effectiveness and cost-effectiveness... | 24th October, 2009
| Centre for Reviews and Dissemination, University of York, UK.
| Health Technol Assess. 2009 Oct;13(48):1-189, 215-318, iii.
DOI Direct Link |
Open abdominal aortic aneurysm repair in the endovascular era: effect of clamp site on outcomes.
OBJECTIVE: To describe a contemporary series of open abdominal aortic... | 23rd October, 2009
| Division of Vascular Surgery, Oregon Health and Science University,
| Arch Surg. 2009 Sep;144(9):811-6.
DOI Direct Link |
Relevance of the ADAM and UK Small Aneurysm trial data in the age of endovascular aneurysm repair.
HYPOTHESIS: Neither the ADAM nor the UK Small Aneurysm trials showed an... | 23rd October, 2009
| Department of Surgery, University of California, Irvine Medical Center,
| Arch Surg. 2009 Sep;144(9):806-10.
DOI Direct Link |
In vivo serial assessment of aortic aneurysm formation in apolipoprotein E-deficient mice via MRI.
BACKGROUND: Hyperlipidimic mice administered angiotensin II have been used... | 21st October, 2009
| Cardiovascular and Urogenital Center of Excellence for Drug Discovery,
| Circ Cardiovasc Imaging. 2008 Nov;1(3):220-6. Epub 2008 Sep 17.
DOI Direct Link |
→View more research publications. |
Press Releases on AAAS:
|
 |
| EMD Serono, Inc. Named as a Top Employer by Science Magazine |
5th October, 2009 |
EMD Serono, Inc. |
ROCKLAND, Mass., Oct. 5 /PRNewswire/ -- EMD Serono, Inc., an affiliate of Merck KGaA, Darmstadt, Germany, announced today that Science magazine has named it one of the
|
| New Evidence that Bush Administration Impeded 3 Investigations into Alleged Massacre of Up to 2,000 Prisoners in Afghanistan |
10th July, 2009 |
Physicians for Human Rights |
CAMBRIDGE, Mass., July 10 /PRNewswire/ -- Physicians for Human Rights (PHR) has issued a call for a criminal probe in the wake of a
|
| When 'Just Say No' Isn't Enough: Try Science |
3rd December, 2008 |
AAAS |
WASHINGTON, Dec. 3 /PRNewswire/ -- Teens are fascinated by their brains,
the way they work, change, and even "freeze" sometimes. The American
Association for the Advancement of
|
| American College of Cardiology and Center of Excellence for Simulation Research of Western Michigan University (CESR) Partner for in situ Simulation to Improve Team Communication and Door-to-Balloon (D2B) Time |
20th October, 2008 |
Mentice Inc. |
WASHINGTON, BATTLE CREEK, Mich., and EVANSTON, Ill., Oct. 20
/PRNewswire/ -- The American College of Cardiology (ACC) and the Center of
Excellence for Simulation Research (CESR) of Western
|
| Lilly Recognized as One of the World's Top Biopharmaceutical Employers |
10th October, 2008 |
Eli Lilly and Company |
INDIANAPOLIS, Oct. 10 /PRNewswire-FirstCall/ -- Eli Lilly and Company
(NYSE: LLY) announced today that it has made the list of Top 20
biopharmaceutical employers, according to the prestigious
|
AAAS results (if any) from reagent suppliers | 
|
Technical Note: Using R&D Systems Proteome Profiler™ Antibody ...
Activated RTKs are indicated at the bottom. [Figure from Stommel, J.A. et al. ( 2007) Science 318:287. Reprinted with permission from AAAS.] ...
http://www.rndsystems.com/cb_detail_objectname_cb09i1_techni...
|
 |
Browse by AZ List - GeneTex Inc. - Your source for monoclonal ...
AAAS antibody (achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)), GTX101410, Rabbit PAb, WB, 100 μl, USD $269.00, - ...
http://www.genetex.com/WebPage/Product/Catalog.aspx?Type=Bro...
|
 |
Aladin (3E9) Antibody sc-100321
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, AAAS, 8086, 12q13.13, NM_015665 ...
http://www.scbt.com/datasheet-100321-aladin-3e9-antibody.htm...
|
 |
Abgent - Cell and Function Antibodies
AT1001a, AAAS monoclonal antibody (M02), ELISA,IHC-P,S-ELISA,WB-Ce,WB-Re, H. AT1002a, AADAC monoclonal antibody (M01), ELISA,S-ELISA,WB-Re, H ...
http://www.abgent.com/products/category/cell_function...
|
 |
Use of anti-beta-galactosidase antibody to identify transplanted ...
... University of Massachusetts Medical School Worchester, A. Rogers, Massachusetts Institute of Technology, and Science Magazine. Copyright 2004 AAAS
. ...
http://www.promega.com/enotes/applications/ap0072.htm...
|
 |
RNAi, Epigenetics & Gene Regulation - Invitrogen.com a Provider of ...
Register for Science/AAAS Webinar. Sign up for the Science/AAAS Webinar: " microRNA Research Design: Strategies from the Experts" on November 10th, 2009
...
http://www.invitrogen.com/site/us/en/home/Products-and-Servi...
|
 |
Aladin (3E9) Antibody sc-100321
Species, 遺伝子名, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. ヒト, AAAS, 8086, 12q13.13, NM_015665 ...
http://www.scbt.com/ja/datasheet-100321-aladin-3e9-antibody....
|
 |
Search Bioportfolio and other Life Science Sites for AAAS,
or search for AAAS on BioPortfolio's antibody search engine.
This page has been viewed 155 times
Recent Search Terms used to find this page: Triple aortic aneurysm | .
Resources from the NCBI used on this page, NCBI's standard disclaimer applies.
|
