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Search results 1 to 100 out of 121 for Clcn1

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Category: Publication
Type Details Score
Publication      
First Author: Harris B
Year: 2008
Journal: MGI Direct Data Submission
Title: Myotonia 9 Jackson; a new mutation in the Clcn1 gene
Publication  
First Author: Oana K
Year: 2013
Journal: Sci Rep
Title: Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice.
Volume: 3
Pages: 2142
Publication
First Author: Goblet C
Year: 1995
Journal: Dev Biol
Title: Modifications of gene expression in myotonic murine skeletal muscle are associated with abnormal expression of myogenic regulatory factors.
Volume: 170
Issue: 2
Pages: 262-73
Publication  
First Author: Neumann P
Year: 1989
Journal: Mouse News Lett
Title: A new allele of adr
Volume: 83
Pages: 157
Publication      
First Author: Schroeder D
Year: 2007
Journal: MGI Direct Data Submission
Title: Myotonia 8 Jackson, a new mutation in Clcn1
Publication
First Author: Gronemeier M
Year: 1994
Journal: J Biol Chem
Title: Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice.
Volume: 269
Issue: 8
Pages: 5963-7
Publication
First Author: Steinmeyer K
Year: 1991
Journal: Nature
Title: Inactivation of muscle chloride channel by transposon insertion in myotonic mice.
Volume: 354
Issue: 6351
Pages: 304-8
Publication  
First Author: Jockusch H
Year: 1990
Journal: Mouse Genome
Title: Allelic mutations at the myotonia locus adr
Volume: 87
Pages: 72
Publication
First Author: Klocke R
Year: 1994
Journal: J Biol Chem
Title: Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle.
Volume: 269
Issue: 44
Pages: 27635-9
Publication
First Author: Heller AH
Year: 1982
Journal: J Neurosci
Title: Myotonia, a new inherited muscle disease in mice.
Volume: 2
Issue: 7
Pages: 924-33
Publication  
First Author: Adkison L
Year: 1989
Journal: Mouse News Lett
Title: New alleles of "arrested development of righting response (adr)".
Volume: 84
Pages: 89-90
Publication  
First Author: van Lunteren E
Year: 2011
Journal: Front Physiol
Title: Impaired Wheel Running Exercise in CLC-1 Chloride Channel-Deficient Myotonic Mice.
Volume: 2
Pages: 47
Publication
First Author: van Lunteren E
Year: 2007
Journal: Respir Physiol Neurobiol
Title: Genetic CLC-1 chloride channel deficiency modifies diaphragm muscle isometric contractile properties.
Volume: 155
Issue: 3
Pages: 220-6
Publication  
First Author: Yarotskyy V
Year: 2025
Journal: Neurosci Lett
Title: Novel voltage-dependent Cl(-) channels in striatal medium spiny neurons are unrelated to ClC-1 or other known Ca(2+)-induced Cl(-) channel/transporter types.
Volume: 844
Pages: 138032
Publication
First Author: Jockusch H
Year: 1988
Journal: Genet Res
Title: The genes for two neuromuscular diseases of the mouse, 'arrested development of righting response', adr, and 'myotonia', mto, are allelic.
Volume: 52
Issue: 3
Pages: 203-5
Publication
First Author: Watkins J
Year: 1979
Journal: Biochem Soc Trans
Title: Deficiency of fructose 1,6-bisphosphate aldolase in type-II muscle fibres of the A2G-adr mouse mutant with abnormal muscle function [proceedings].
Volume: 7
Issue: 5
Pages: 907-8
Publication
First Author: Wang X
Year: 2005
Journal: J Neurosci
Title: Activity-dependent presynaptic regulation of quantal size at the mammalian neuromuscular junction in vivo.
Volume: 25
Issue: 2
Pages: 343-51
Publication
First Author: Watkins WJ
Year: 1984
Journal: Lab Anim
Title: Biological features of the new A2G--adr mouse mutant with abnormal muscle function.
Volume: 18
Issue: 1
Pages: 1-6
Publication
First Author: Mehrke G
Year: 1988
Journal: Muscle Nerve
Title: The myotonic mouse mutant ADR: electrophysiology of the muscle fiber.
Volume: 11
Issue: 5
Pages: 440-6
Publication
First Author: Jockusch H
Year: 1988
Journal: Eur J Biochem
Title: Reduction of myosin-light-chain phosphorylation and of parvalbumin content in myotonic mouse muscle and its reversal by tocainide.
Volume: 171
Issue: 1-2
Pages: 101-5
Publication
First Author: Füchtbauer EM
Year: 1988
Journal: Proc Natl Acad Sci U S A
Title: Developmental control of the excitability of muscle: transplantation experiments on a myotonic mouse mutant.
Volume: 85
Issue: 11
Pages: 3880-4
Publication
First Author: Schimmelpfeng J
Year: 1987
Journal: Cell Tissue Res
Title: Increased density of satellite cells in the absence of fibre degeneration in muscle of myotonic mice.
Volume: 249
Issue: 2
Pages: 351-7
Publication
First Author: Soothill PW
Year: 1981
Journal: J Neurochem
Title: Glycolytic, pentose-phosphate shunt and transaminase enzymes in gastrocnemius muscle, liver, heart, and brain of two mouse mutants, 129 J-dy and A2g-adr, with abnormal muscle function.
Volume: 37
Issue: 2
Pages: 506-10
Publication
First Author: Gurnett CA
Year: 1995
Journal: J Biol Chem
Title: Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice.
Volume: 270
Issue: 16
Pages: 9035-8
Publication  
First Author: Jockusch H
Year: 1986
Journal: Mouse News Lett
Title: 'Arrested development of righting response' (adr) and 'myotonia' (mto) are allelic
Volume: 75
Pages: 19-20
Publication
First Author: Költgen D
Year: 1991
Journal: Muscle Nerve
Title: Myotonia and neuromuscular transmission in the mouse.
Volume: 14
Issue: 8
Pages: 775-80
Publication
First Author: Kimura T
Year: 2003
Journal: Neurosci Lett
Title: Expression and distribution of a small-conductance calcium-activated potassium channel (SK3) protein in skeletal muscles from myotonic muscular dystrophy patients and congenital myotonic mice.
Volume: 347
Issue: 3
Pages: 191-5
Publication  
First Author: Jockusch H
Year: 1987
Journal: Mouse News Lett
Title: A cross involving "arrested development of righting response", adr, and "nude", nu.
Volume: 77
Pages: 111-112
Publication
First Author: Krämer R
Year: 1998
Journal: Neuromuscul Disord
Title: Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice.
Volume: 8
Issue: 8
Pages: 542-50
Publication
First Author: Heimann P
Year: 1998
Journal: Neuromuscul Disord
Title: Mutual interference of myotonia and muscular dystrophy in the mouse: a study on ADR-MDX double mutants.
Volume: 8
Issue: 8
Pages: 551-60
Publication
First Author: Schnülle V
Year: 1997
Journal: Mamm Genome
Title: The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles.
Volume: 8
Issue: 10
Pages: 718-25
Publication      
First Author: The Jackson Laboratory Office of Genetic Resources
Year: 2000
Journal: MGI Direct Data Submission
Title: Registry of Remutation at The Jackson Laboratory
Publication    
First Author: Myers JH
Year: 2021
Journal: Elife
Title: The mechanism underlying transient weakness in myotonia congenita.
Volume: 10
Publication
First Author: Osborne RJ
Year: 2009
Journal: Hum Mol Genet
Title: Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy.
Volume: 18
Issue: 8
Pages: 1471-81
Publication  
First Author: Wang X
Year: 2023
Journal: Exp Neurol
Title: Plateau potentials contribute to myotonia in mouse models of myotonia congenita.
Volume: 361
Pages: 114303
Publication
First Author: Waters CW
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction.
Volume: 110
Issue: 22
Pages: 9160-5
Publication
First Author: Lueck JD
Year: 2007
Journal: Am J Physiol Cell Physiol
Title: Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1.
Volume: 292
Issue: 4
Pages: C1291-7
Publication
First Author: Yadava RS
Year: 2020
Journal: Hum Mol Genet
Title: Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA.
Volume: 29
Issue: 9
Pages: 1440-1453
Publication
First Author: Lueck JD
Year: 2007
Journal: J Gen Physiol
Title: Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy.
Volume: 129
Issue: 1
Pages: 79-94
Publication
First Author: Dupont C
Year: 2020
Journal: Ann Neurol
Title: TRPV4 Antagonism Prevents Mechanically Induced Myotonia.
Volume: 88
Issue: 2
Pages: 297-308
Publication
First Author: Arnaiz I
Year: 2013
Journal: Reproduction
Title: Changing expression of chloride channels during preimplantation mouse development.
Volume: 145
Issue: 1
Pages: 73-84
Publication
First Author: Stuhlfauth I
Year: 1984
Journal: Proc Natl Acad Sci U S A
Title: Calcium-binding protein, parvalbumin, is reduced in mutant mammalian muscle with abnormal contractile properties.
Volume: 81
Issue: 15
Pages: 4814-8
Publication
First Author: Gladman JT
Year: 2015
Journal: Hum Mol Genet
Title: NKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity.
Volume: 24
Issue: 1
Pages: 251-64
Publication
First Author: Mankodi A
Year: 2002
Journal: Mol Cell
Title: Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.
Volume: 10
Issue: 1
Pages: 35-44
Publication
First Author: Steinmeyer K
Year: 1991
Journal: Nature
Title: Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel.
Volume: 354
Issue: 6351
Pages: 301-4
Publication
First Author: Wang X
Year: 2006
Journal: J Neurosci
Title: Prolongation of evoked and spontaneous synaptic currents at the neuromuscular junction after activity blockade is caused by the upregulation of fetal acetylcholine receptors.
Volume: 26
Issue: 35
Pages: 8983-7
Publication
First Author: DiFranco M
Year: 2013
Journal: J Physiol
Title: Age-dependent chloride channel expression in skeletal muscle fibres of normal and HSA(LR) myotonic mice.
Volume: 591
Issue: 5
Pages: 1347-71
Publication
First Author: Cho KH
Year: 2008
Journal: Toxicol Res
Title: Studies on N-Ethyl-N-nitrosourea Mutagenesis in BALB/c Mice.
Volume: 24
Issue: 1
Pages: 59-68
Publication
First Author: Willmann R
Year: 2001
Journal: Am J Physiol Cell Physiol
Title: Muscle LIM protein is upregulated in fast skeletal muscle during transition toward slower phenotypes.
Volume: 280
Issue: 2
Pages: C273-9
Publication
First Author: Bryant SH
Year: 1971
Journal: J Physiol
Title: Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids.
Volume: 219
Issue: 2
Pages: 367-83
Publication
First Author: Reininghaus J
Year: 1988
Journal: Muscle Nerve
Title: The myotonic mouse mutant ADR: physiological and histochemical properties of muscle.
Volume: 11
Issue: 5
Pages: 433-9
Publication  
First Author: Füchtbauer EM
Year: 1988
Journal: Monogr Dev Biol
Title: Analysis of donor and host contributions to regenerated muscle grafts in the mouse.
Volume: 21
Pages: 64-9
Publication
First Author: Wischmeyer E
Year: 1993
Journal: Neuromuscul Disord
Title: Development of electrical myotonia in the ADR mouse: role of chloride conductance in myotubes and neonatal animals.
Volume: 3
Issue: 4
Pages: 267-74
Publication  
First Author: Chen MF
Year: 1997
Journal: J Physiol
Title: Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl- channel 1 gene dosage.
Volume: 504 ( Pt 1)
Pages: 75-81
Publication
First Author: Papponen H
Year: 2005
Journal: Exp Neurol
Title: Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel.
Volume: 191
Issue: 1
Pages: 163-73
Publication  
First Author: Heller A
Year: 1981
Journal: Mouse News Lett
Title: Myotonia (mto).
Volume: 65
Pages: 16
Publication
First Author: Kanadia RN
Year: 2003
Journal: Science
Title: A muscleblind knockout model for myotonic dystrophy.
Volume: 302
Issue: 5652
Pages: 1978-80
Publication
First Author: Wheeler TM
Year: 2007
Journal: J Clin Invest
Title: Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy.
Volume: 117
Issue: 12
Pages: 3952-7
Publication
First Author: Chen W
Year: 2007
Journal: J Mol Biol
Title: Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy.
Volume: 368
Issue: 1
Pages: 8-17
Publication
First Author: Koscianska E
Year: 2015
Journal: Nucleic Acids Res
Title: Cooperation meets competition in microRNA-mediated DMPK transcript regulation.
Volume: 43
Issue: 19
Pages: 9500-18
Publication
First Author: Jockusch H
Year: 1994
Journal: Prog Neurobiol
Title: Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia.
Volume: 42
Issue: 2
Pages: 313-7
Publication  
First Author: Jockusch H
Year: 1990
Journal: Mouse Genome
Title: Close linkage of the myotonia gene, adr, to Hox 1.1 on Chr 6
Volume: 86
Pages: 216
Publication  
First Author: Davisson MT
Year: 1989
Journal: Mouse News Lett
Title: Chromosomal location of adr
Volume: 83
Pages: 167
Publication
First Author: Carrell ST
Year: 2016
Journal: Hum Mol Genet
Title: Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice.
Volume: 25
Issue: 19
Pages: 4328-4338
Publication
First Author: Lueck JD
Year: 2010
Journal: J Gen Physiol
Title: Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle.
Volume: 136
Issue: 6
Pages: 597-613
Publication
First Author: Kluxen FW
Year: 1988
Journal: Eur J Biochem
Title: Opposite regulation of the mRNAs for parvalbumin and p19/6.8 in myotonic mouse muscle.
Volume: 176
Issue: 1
Pages: 153-8
Publication
First Author: Cacic M
Year: 1995
Journal: Glycoconj J
Title: Immunohistological analyses of neutral glycosphingolipids and gangliosides in normal mouse skeletal muscle and in mice with neuromuscular diseases.
Volume: 12
Issue: 5
Pages: 721-8
Publication
First Author: Choi J
Year: 2015
Journal: EBioMedicine
Title: Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation.
Volume: 2
Issue: 9
Pages: 1034-47
Publication
First Author: Ryan AM
Year: 1997
Journal: Anim Genet
Title: Chromosomal assignment of six muscle-specific genes in cattle.
Volume: 28
Issue: 2
Pages: 84-7
Publication
First Author: Tanner MK
Year: 2021
Journal: Nucleic Acids Res
Title: Targeted splice sequencing reveals RNA toxicity and therapeutic response in myotonic dystrophy.
Volume: 49
Issue: 4
Pages: 2240-2254
Publication  
First Author: Gallego-Llamas J
Year: 2015
Journal: BMC Genomics
Title: Variant mapping and mutation discovery in inbred mice using next-generation sequencing.
Volume: 16
Pages: 913
Publication
First Author: Schleef M
Year: 1994
Journal: Neuromuscul Disord
Title: Subtractive cDNA cloning as a tool to analyse secondary effects of a muscle disease. Characterization of affected genes in the myotonic ADR mouse.
Volume: 4
Issue: 3
Pages: 205-17
Publication
First Author: Ganser AL
Year: 1988
Journal: Dev Neurosci
Title: A survey of neurological mutant mice. II. Lipid composition of myelinated tissue in possible myelin mutants.
Volume: 10
Issue: 2
Pages: 123-40
Publication  
First Author: Rios JJ
Year: 2021
Journal: Dis Model Mech
Title: Saturation mutagenesis defines novel mouse models of severe spine deformity.
Volume: 14
Issue: 6
Publication
First Author: Lionikas A
Year: 2005
Journal: Physiol Genomics
Title: Genetic determinants of weight of fast- and slow-twitch skeletal muscle in 500-day-old mice of the C57BL/6J and DBA/2J lineage.
Volume: 21
Issue: 2
Pages: 184-92
Publication
First Author: Gladman JT
Year: 2013
Journal: PLoS One
Title: Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1).
Volume: 8
Issue: 9
Pages: e72907
Publication
First Author: Gariboldi M
Year: 1994
Journal: Genomics
Title: Comparative mapping of the actin-binding protein 280 genes in human and mouse.
Volume: 21
Issue: 2
Pages: 428-30
Publication  
First Author: Douglas TC
Year: 1979
Journal: Immunogenetics
Title: The position of the gene for glyoxylase I on Chromosome 17 of the mouse.
Volume: 8
Pages: 367-371
Publication
First Author: Nichols DH
Year: 2020
Journal: Cell Tissue Res
Title: Interaction with ectopic cochlear crista sensory epithelium disrupts basal cochlear sensory epithelium development in Lmx1a mutant mice.
Volume: 380
Issue: 3
Pages: 435-448
Publication
First Author: Chamberlain CM
Year: 2012
Journal: Hum Mol Genet
Title: Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise.
Volume: 21
Issue: 21
Pages: 4645-54
Publication
First Author: Lin X
Year: 2006
Journal: Hum Mol Genet
Title: Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.
Volume: 15
Issue: 13
Pages: 2087-97
Publication
First Author: Bassett DE Jr
Year: 1997
Journal: Nat Genet
Title: Genome cross-referencing and XREFdb: implications for the identification and analysis of genes mutated in human disease.
Volume: 15
Issue: 4
Pages: 339-44
Publication      
First Author: JAX Neuroscience Mutagenesis Facility
Year: 2004
Journal: MGI Direct Data Submission
Title: Heritable mouse mutants from JAX NMF ENU Mutagenesis Program
Publication      
First Author: JAX Neuroscience Mutagenesis Facility
Year: 2003
Journal: MGI Direct Data Submission
Title: Heritable mouse mutants from JAX NMF ENU Mutagenesis Program
Publication
First Author: Klocke R
Year: 1993
Journal: Genomics
Title: Chromosomal mapping in the mouse of eight K(+)-channel genes representing the four Shaker-like subfamilies Shaker, Shab, Shaw, and Shal.
Volume: 18
Issue: 3
Pages: 568-74
Publication      
First Author: The Australian Phenomics Facility at The Australian National University
Year: 2006
Journal: MGI Direct Data Submission
Title: Heritable mouse mutants from the ENU mutagenesis program at the Australian Phenomics Facility at The Australian National University
Publication
First Author: Harrell MD
Year: 2007
Journal: Physiol Genomics
Title: Large-scale analysis of ion channel gene expression in the mouse heart during perinatal development.
Volume: 28
Issue: 3
Pages: 273-83
Publication      
First Author: The RIKEN BioResource Center
Year: 2006
Journal: Unpublished
Title: Information obtained from The RIKEN BioResource Center
Publication        
First Author: International Committee on Standardized Genetic Nomenclature for Mice
Year: 1993
Title: Nomenclature rule change to delete hyphens and parentheses from mouse locus symbols
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Mouse Synonym Curation
Publication      
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
Publication      
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
Publication        
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
Publication        
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
Publication
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication        
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