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Search results 301 to 353 out of 353 for Kcnq4

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Type Details Score
Publication
- | J:94338
     
First Author: NIH Mouse Knockout Inventory
Year: 2004
Journal: MGI Direct Data Submission
Title: Information obtained from the NIH Mouse Knockout Inventory
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Publication
- | J:157065
     
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
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Publication
- | J:155856
       
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
- | J:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
- | J:60000
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
10025409 | -
First Author: Kubisch C
Year: 1999
Journal: Cell
Title: KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
Volume: 96
Issue: 3
Pages: 437-46
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Protein Domain
IPR015573 | KCQN4
Type: Family
Description: Potassium channels are the most diverse group of the ion channel family [, ]. They are important in shaping the action potential, and in neuronal excitability and plasticity []. The potassium channel family is composed of several functionally distinct isoforms, which can be broadly separated into 2 groups []: the practically non-inactivating 'delayed' group and the rapidly inactivating 'transient' group.These are all highly similar proteins, with only small amino acid changes causing the diversity of the voltage-dependent gating mechanism, channel conductance and toxin binding properties. Each type of K+channel is activated by different signals and conditions depending on their type of regulation: some open in response to depolarisation of the plasma membrane; others in response to hyperpolarisation or an increase in intracellular calcium concentration; some can be regulated by binding of a transmitter, together with intracellular kinases; while others are regulated by GTP-binding proteins or other second messengers []. In eukaryotic cells, K+channels are involved in neural signalling and generation of the cardiac rhythm, act as effectors in signal transduction pathways involving G protein-coupled receptors (GPCRs) and may have a role in target cell lysis by cytotoxic T-lymphocytes []. In prokaryotic cells, they play a role in the maintenance of ionic homeostasis [].All K+channels discovered so far possess a core of alpha subunits, each comprising either one or two copies of a highly conserved pore loop domain (P-domain). The P-domain contains the sequence (T/SxxTxGxG), which has been termed the K+selectivity sequence. In families that contain one P-domain, four subunits assemble to form a selective pathway for K+across the membrane. However, it remains unclear how the 2 P-domain subunits assemble to form a selective pore. The functional diversity of these families can arise through homo- or hetero-associations of alpha subunits or association with auxiliary cytoplasmic beta subunits. K+channel subunits containing one pore domain can be assigned into one of two superfamilies: those that possess six transmembrane (TM) domains and those that possess only two TM domains. The six TM domain superfamily can be further subdivided into conserved gene families: the voltage-gated (Kv) channels; the KCNQ channels (originally known as KvLQT channels); the EAG-like K+channels; and three types of calcium (Ca)-activated K+channels (BK, IK and SK) []. The 2TM domain family comprises inward-rectifying K+channels. In addition, there are K+channel alpha-subunits that possess two P-domains. These are usually highly regulated K+selective leak channels.KCNQ channels (also known as KQT-like channels) differ from other voltage-gated 6 TM helix channels, chiefly in that they possess no tetramerisation domain. Consequently, they rely on interaction with accessory subunits, or form heterotetramers with other members of the family []. Currently, 5 members of the KCNQ family are known. These have been found to be widely distributed within the body, having been shown to be expressed in the heart, brain, pancreas, lung, placenta and ear. They were initially cloned as a result of a search for proteins involved in cardiac arhythmia. Subsequently, mutations in other KCNQ family members have been shown to be responsible for some forms of hereditary deafness []and benign familial neonatal epilepsy [].KCNQ4 gene maps to the DFNA2 locus for a form of nonsyndromic dominant deafness. In the cochlea, it is expressed in sensory outer hair cells [].
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Publication
16803873 | J:111711
First Author: Winter H
Year: 2006
Journal: J Cell Sci
Title: Thyroid hormone receptors TRalpha1 and TRbeta differentially regulate gene expression of Kcnq4 and prestin during final differentiation of outer hair cells.
Volume: 119
Issue: Pt 14
Pages: 2975-84
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Publication
19279247 | J:147071
First Author: Sousa AD
Year: 2009
Journal: J Neurosci
Title: The septate junction protein caspr is required for structural support and retention of KCNQ4 at calyceal synapses of vestibular hair cells.
Volume: 29
Issue: 10
Pages: 3103-8
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Allele
Gjb3<tm1Kwi> | MGI:2155738
Name: gap junction protein, beta 3; targeted mutation 1, Klaus Willecke
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Genotype
Genotype
Symbol: Gjb3/Gjb3
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0110558 | autosomal dominant nonsyndromic deafness 2A
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Protein
Q9JK97
Organism: Mus musculus/domesticus
Length: 696  
Fragment?: false
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Publication
10838601 | -
First Author: Sanguinetti MC
Year: 2000
Journal: Trends Pharmacol Sci
Title: Maximal function of minimal K+ channel subunits.
Volume: 21
Issue: 6
Pages: 199-201
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Publication
8528244 | -
First Author: Wang Q
Year: 1996
Journal: Nat Genet
Title: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
Volume: 12
Issue: 1
Pages: 17-23
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Publication
9430594 | -
First Author: Biervert C
Year: 1998
Journal: Science
Title: A potassium channel mutation in neonatal human epilepsy.
Volume: 279
Issue: 5349
Pages: 403-6
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Protein Coding Gene
MGI:95721 | Gjb3
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
26733196 | J:231232
First Author: Schütze S
Year: 2016
Journal: J Biol Chem
Title: KCNQ Potassium Channels Modulate Sensitivity of Skin Down-hair (D-hair) Mechanoreceptors.
Volume: 291
Issue: 11
Pages: 5566-75
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Publication
11976689 | J:76136
First Author: Boettger T
Year: 2002
Journal: Nature
Title: Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.
Volume: 416
Issue: 6883
Pages: 874-8
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Publication
22143287 | J:225046
First Author: Fang Q
Year: 2012
Journal: J Assoc Res Otolaryngol
Title: Genetic background of Prop1(df) mutants provides remarkable protection against hypothyroidism-induced hearing impairment.
Volume: 13
Issue: 2
Pages: 173-184
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Publication
19176829 | J:144823
First Author: Mustapha M
Year: 2009
Journal: J Neurosci
Title: Deafness and permanently reduced potassium channel gene expression and function in hypothyroid Pit1dw mutants.
Volume: 29
Issue: 4
Pages: 1212-23
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Publication
20932311 | J:166067
 
First Author: Sciarretta C
Year: 2010
Journal: BMC Dev Biol
Title: PLCγ-activated signalling is essential for TrkB mediated sensory neuron structural plasticity.
Volume: 10
Pages: 103
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Publication
15328414 | J:92443
First Author: Rüttiger L
Year: 2004
Journal: Proc Natl Acad Sci U S A
Title: Deletion of the Ca2+-activated potassium (BK) alpha-subunit but not the BKbeta1-subunit leads to progressive hearing loss.
Volume: 101
Issue: 35
Pages: 12922-7
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Publication
35700264 | J:360689
First Author: Affortit C
Year: 2022
Journal: Sci Signal
Title: A disease-associated mutation in thyroid hormone receptor α1 causes hearing loss and sensory hair cell patterning defects in mice.
Volume: 15
Issue: 738
Pages: eabj4583
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Publication
17376978 | J:119450
First Author: Sendin G
Year: 2007
Journal: J Neurosci
Title: Maturation of ribbon synapses in hair cells is driven by thyroid hormone.
Volume: 27
Issue: 12
Pages: 3163-73
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Publication
32327991 | J:290043
 
First Author: Marchetta P
Year: 2020
Journal: Front Aging Neurosci
Title: Guanylyl Cyclase A/cGMP Signaling Slows Hidden, Age- and Acoustic Trauma-Induced Hearing Loss.
Volume: 12
Pages: 83
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Publication
34408646 | J:324362
 
First Author: Peixoto Pinheiro B
Year: 2021
Journal: Front Aging Neurosci
Title: Auditory Threshold Variability in the SAMP8 Mouse Model of Age-Related Hearing Loss: Functional Loss and Phenotypic Change Precede Outer Hair Cell Loss.
Volume: 13
Pages: 708190
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Publication
2451788 | J:9129
First Author: Tempel BL
Year: 1988
Journal: Nature
Title: Cloning of a probable potassium channel gene from mouse brain.
Volume: 332
Issue: 6167
Pages: 837-9
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Publication
1772658 | -
First Author: Perney TM
Year: 1991
Journal: Curr Opin Cell Biol
Title: The molecular biology of K+ channels.
Volume: 3
Issue: 4
Pages: 663-70
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Publication
1879548 | -
First Author: Luneau C
Year: 1991
Journal: FEBS Lett
Title: Shaw-like rat brain potassium channel cDNA's with divergent 3' ends.
Volume: 288
Issue: 1-2
Pages: 163-7
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Publication
1373731 | J:931
First Author: Attali B
Year: 1992
Journal: J Biol Chem
Title: Cloning, functional expression, and regulation of two K+ channels in human T lymphocytes.
Volume: 267
Issue: 12
Pages: 8650-7
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Publication
2448635 | -
First Author: Schwarz TL
Year: 1988
Journal: Nature
Title: Multiple potassium-channel components are produced by alternative splicing at the Shaker locus in Drosophila.
Volume: 331
Issue: 6152
Pages: 137-42
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Publication
2555158 | -
First Author: Stühmer W
Year: 1989
Journal: EMBO J
Title: Molecular basis of functional diversity of voltage-gated potassium channels in mammalian brain.
Volume: 8
Issue: 11
Pages: 3235-44
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Publication
11178249 | -
First Author: Miller C
Year: 2000
Journal: Genome Biol
Title: An overview of the potassium channel family.
Volume: 1
Issue: 4
Pages: REVIEWS0004
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Publication
30079013 | J:276329
 
First Author: Takahashi S
Year: 2018
Journal: Front Cell Neurosci
Title: Prestin Contributes to Membrane Compartmentalization and Is Required for Normal Innervation of Outer Hair Cells.
Volume: 12
Pages: 211
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Publication
39655160 | J:360625
 
First Author: Regalado Núñez K
Year: 2024
Journal: Front Neurol
Title: Vestibular afferent neurons develop normally in the absence of quantal/glutamatergic input.
Volume: 15
Pages: 1441964
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