Document Detail


Familial orthostatic tachycardia due to norepinephrine transporter deficiency.
MedLine Citation:
PMID:  11458707     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CONCLUSION: These results represent the first identification of a specific genetic defect in OI and the first disease linked to a coding alteration in a Na+/Cl(-)-dependent neurotransmitter transporter. Identification of this mechanism may facilitate our understanding of genetic causes of OI and lead to the development of more effective therapeutic modalities.
Authors:
D Robertson; N Flattem; T Tellioglu; R Carson; E Garland; J R Shannon; J Jordan; G Jacob; R D Blakely; I Biaggioni
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Annals of the New York Academy of Sciences     Volume:  940     ISSN:  0077-8923     ISO Abbreviation:  Ann. N. Y. Acad. Sci.     Publication Date:  2001 Jun 
Date Detail:
Created Date:  2001-07-18     Completed Date:  2001-08-09     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  7506858     Medline TA:  Ann N Y Acad Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  527-43     Citation Subset:  IM; S    
Affiliation:
Autonomic Dysfunction Center, AA3228 MCN, Vanderbilt University, Nashville, TN 37232-2195, USA. david.robertson@mcmail.vanderbilt.edu
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence / genetics
Cardiovascular System / physiopathology
Carrier Proteins / genetics*
Central Nervous System / physiopathology
Dizziness / etiology*,  genetics*,  physiopathology
Humans
Molecular Sequence Data
Mutation, Missense / physiology*
Norepinephrine Plasma Membrane Transport Proteins
Pedigree
Posture*
Symporters*
Tachycardia / etiology*,  genetics*,  physiopathology
Grant Support
ID/Acronym/Agency:
1U01NS33460/NS/NINDS NIH HHS; 5P01 HL56693/HL/NHLBI NIH HHS; M01 RR00095/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/Carrier Proteins; 0/Norepinephrine Plasma Membrane Transport Proteins; 0/SLC6A2 protein, human; 0/Symporters
Investigator
Investigator/Affiliation:
D Robertson / Vanderbilt U, Nashville, TN

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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