| Title |
KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness
|
|---|---|
| Published in |
Cell, February 1999
|
| DOI | 10.1016/s0092-8674(00)80556-5 |
| Pubmed ID | |
| Authors |
Christian Kubisch, Björn C Schroeder, Thomas Friedrich, Björn Lütjohann, Aziz El-Amraoui, Sandrine Marlin, Christine Petit, Thomas J Jentsch |
| Abstract |
Potassium channels regulate electrical signaling and the ionic composition of biological fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene family underlie inherited cardiac arrhythmias (in some cases associated with deafness) and neonatal epilepsy. We have now cloned KCNQ4, a novel member of this branch. It maps to the DFNA2 locus for a form of nonsyndromic dominant deafness. In the cochlea, it is expressed in sensory outer hair cells. A mutation in this gene in a DFNA2 pedigree changes a residue in the KCNQ4 pore region. It abolishes the potassium currents of wild-type KCNQ4 on which it exerts a strong dominant-negative effect. Whereas mutations in KCNQ1 cause deafness by affecting endolymph secretion, the mechanism leading to KCNQ4-related hearing loss is intrinsic to outer hair cells. |
Mendeley readers
The data shown below were compiled from readership statistics for 242 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 5 | 2% |
| United States | 3 | 1% |
| United Kingdom | 2 | <1% |
| Chile | 1 | <1% |
| Netherlands | 1 | <1% |
| Brazil | 1 | <1% |
| Unknown | 229 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 47 | 19% |
| Student > Ph. D. Student | 45 | 19% |
| Student > Doctoral Student | 24 | 10% |
| Student > Bachelor | 21 | 9% |
| Professor > Associate Professor | 21 | 9% |
| Other | 46 | 19% |
| Unknown | 38 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 68 | 28% |
| Medicine and Dentistry | 46 | 19% |
| Biochemistry, Genetics and Molecular Biology | 28 | 12% |
| Neuroscience | 28 | 12% |
| Pharmacology, Toxicology and Pharmaceutical Science | 6 | 2% |
| Other | 20 | 8% |
| Unknown | 46 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 12. 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 29 December 2022.
All research outputs
#2,863,515
of 25,371,288 outputs
Outputs from Cell
#6,741
of 17,169 outputs
Outputs of similar age
#3,680
of 102,021 outputs
Outputs of similar age from Cell
#12
of 70 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. Compared to these this one has done well and is in the 88th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 17,169 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 59.1. This one has gotten more attention than average, scoring higher than 58% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 102,021 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 95% of its contemporaries.
We're also able to compare this research output to 70 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.