| Familial orthostatic tachycardia due to norepinephrine transporter deficiency. | |
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MedLine Citation:
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PMID: 11458707 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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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:
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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:
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Created Date: 2001-07-18 Completed Date: 2001-08-09 Revised Date: 2013-05-20 |
Medline Journal Info:
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Nlm Unique ID: 7506858 Medline TA: Ann N Y Acad Sci Country: United States |
Other Details:
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Languages: eng Pagination: 527-43 Citation Subset: IM; S |
Affiliation:
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Autonomic Dysfunction Center, AA3228 MCN, Vanderbilt University, Nashville, TN 37232-2195, USA. david.robertson@mcmail.vanderbilt.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence
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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:
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1U01NS33460/NS/NINDS NIH HHS; 5P01 HL56693/HL/NHLBI NIH HHS; M01 RR00095/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/Norepinephrine Plasma Membrane Transport Proteins; 0/SLC6A2 protein, human; 0/Symporters |
| Investigator | |
Investigator/Affiliation:
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D Robertson / Vanderbilt U, Nashville, TN |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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