| Title |
Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease
|
|---|---|
| Published in |
neurogenetics, August 1998
|
| DOI | 10.1007/s100480050043 |
| Pubmed ID | |
| Authors |
David D. Einum, J. Zhang, P. J. Arneson, Anil G. Menon, L. J. Ptacek |
| Abstract |
Alterations in ion channel permeability or selectivity have been shown to cause neurological defects in humans. Anion exchanger isoform 3 (AE3) is prominently expressed in the brain and performs an electroneutral exchange of chloride and bicarbonate ions. In order to study the potential role of AE3 in human neurological disease, we characterized AE3 genomic structure and performed mutational analysis on patients with an episodic movement disorder that maps to the same genetic locus. AE3 genomic organization, including the nucleotide sequence of the 5'-untranslated region and intron/ exon boundaries, is highly conserved between humans and homologs from mouse and rat. Mutational analysis revealed no disease-causing defect in patients with familial paroxysmal dyskinesia, although several benign polymorphisms were identified. AE3 variation may prove useful for further genetic studies, such as finer resolution mapping. Characterization of genomic structure will facilitate mutational analysis of AE3 in studies of neurological diseases mapped to the same locus. |
Mendeley readers
The data shown below were compiled from readership statistics for 6 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 6 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 2 | 33% |
| Professor | 1 | 17% |
| Student > Ph. D. Student | 1 | 17% |
| Student > Master | 1 | 17% |
| Unknown | 1 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 2 | 33% |
| Biochemistry, Genetics and Molecular Biology | 1 | 17% |
| Social Sciences | 1 | 17% |
| Medicine and Dentistry | 1 | 17% |
| Unknown | 1 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 21 December 2007.
All research outputs
#8,535,472
of 25,374,917 outputs
Outputs from neurogenetics
#130
of 389 outputs
Outputs of similar age
#9,921
of 31,221 outputs
Outputs of similar age from neurogenetics
#3
of 6 outputs
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