Inactivation of muscle chloride channel by transposon insertion in myotonic mice

Steinmeyer K, Klocke R, Ortland C, Gronemeier M, Jockusch H, Grunder S, Jentsch TJ (1991)
NATURE 354(6351): 304-308.

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Zeitschriftenaufsatz | Veröffentlicht | Englisch
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Abstract / Bemerkung
MYOTONIA (stiffness and impaired relaxation of skeletal muscle) is a symptom of several diseases caused by repetitive firing of action potentials in muscle membranes 1. Purely myotonic human diseases are dominant myotonia congenita (Thomsen) and recessive generalized myotonia (Becker), whereas myotonic dystrophy is a systemic disease. Muscle hyperexcitability was attributed to defects in sodium channels 2,3 and/or to a decrease in chloride conductance (in Becker's myotonia 4 and in genetic animal models 5-10). Experimental blockage of Cl- conductance (normally 70-85% of resting conductance in muscle") in fact elicits myotonia 1,9. ADR (ref. 12) mice are a realistic animal model 5-7,12-18 for recessive autosomal myotonia. In addition to Cl- conductance 5, many other parameters 6,12,16 are changed in muscles of homozygous animals. We have now cloned the major mammalian skeletal muscle chloride channel (ClC-1) 19. Here we report that in ADR mice a transposon of the ETn family 20-23 has inserted into the corresponding gene, destroying its coding potential for several membrane-spanning domains. Together with the lack of recombination between the Clc-1 gene and the adr locus, this strongly suggests a lack of functional chloride channels as the primary cause of mouse myotonia.
Erscheinungsjahr
Zeitschriftentitel
NATURE
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354
Ausgabe
6351
Seite(n)
304-308
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PUB-ID

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Steinmeyer K, Klocke R, Ortland C, et al. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. NATURE. 1991;354(6351):304-308.
Steinmeyer, K., Klocke, R., Ortland, C., Gronemeier, M., Jockusch, H., Grunder, S., & Jentsch, T. J. (1991). Inactivation of muscle chloride channel by transposon insertion in myotonic mice. NATURE, 354(6351), 304-308. doi:10.1038/354304a0
Steinmeyer, K., Klocke, R., Ortland, C., Gronemeier, M., Jockusch, H., Grunder, S., and Jentsch, T. J. (1991). Inactivation of muscle chloride channel by transposon insertion in myotonic mice. NATURE 354, 304-308.
Steinmeyer, K., et al., 1991. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. NATURE, 354(6351), p 304-308.
K. Steinmeyer, et al., “Inactivation of muscle chloride channel by transposon insertion in myotonic mice”, NATURE, vol. 354, 1991, pp. 304-308.
Steinmeyer, K., Klocke, R., Ortland, C., Gronemeier, M., Jockusch, H., Grunder, S., Jentsch, T.J.: Inactivation of muscle chloride channel by transposon insertion in myotonic mice. NATURE. 354, 304-308 (1991).
Steinmeyer, K, Klocke, R, Ortland, C, Gronemeier, M, Jockusch, Harald, Grunder, S, and Jentsch, TJ. “Inactivation of muscle chloride channel by transposon insertion in myotonic mice”. NATURE 354.6351 (1991): 304-308.

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Structure of the CLC-1 chloride channel from Homo sapiens.
Park E, MacKinnon R., Elife 7(), 2018
PMID: 29809153
Helix O modulates voltage dependency of CLC-1.
Seong JY, Ha K, Hong C, Myeong J, Lim HH, Yang D, So I., Pflugers Arch 469(2), 2017
PMID: 27921211
Depressed Synaptic Transmission and Reduced Vesicle Release Sites in Huntington's Disease Neuromuscular Junctions.
Khedraki A, Reed EJ, Romer SH, Wang Q, Romine W, Rich MM, Talmadge RJ, Voss AA., J Neurosci 37(34), 2017
PMID: 28724748
Inhibiting persistent inward sodium currents prevents myotonia.
Hawash AA, Voss AA, Rich MM., Ann Neurol 82(3), 2017
PMID: 28833464
Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice.
Carrell ST, Carrell EM, Auerbach D, Pandey SK, Bennett CF, Dirksen RT, Thornton CA., Hum Mol Genet 25(19), 2016
PMID: 27522499
Identification and characterization of the zebrafish ClC-2 chloride channel orthologs.
Pérez-Rius C, Gaitán-Peñas H, Estévez R, Barrallo-Gimeno A., Pflugers Arch 467(8), 2015
PMID: 25236920
Channelopathies of skeletal muscle excitability.
Cannon SC., Compr Physiol 5(2), 2015
PMID: 25880512
ClC-1 chloride channels: state-of-the-art research and future challenges.
Imbrici P, Altamura C, Pessia M, Mantegazza R, Desaphy JF, Camerino DC., Front Cell Neurosci 9(), 2015
PMID: 25964741
Structure and gating of CLC channels and exchangers.
Accardi A., J Physiol 593(18), 2015
PMID: 26148215
Angiotensin II modulates mouse skeletal muscle resting conductance to chloride and potassium ions and calcium homeostasis via the AT1 receptor and NADPH oxidase.
Cozzoli A, Liantonio A, Conte E, Cannone M, Massari AM, Giustino A, Scaramuzzi A, Pierno S, Mantuano P, Capogrosso RF, Camerino GM, De Luca A., Am J Physiol Cell Physiol 307(7), 2014
PMID: 25080489
A novel mutation in CLCN1 associated with feline myotonia congenita.
Gandolfi B, Daniel RJ, O'Brien DP, Guo LT, Youngs MD, Leach SB, Jones BR, Shelton GD, Lyons LA., PLoS One 9(10), 2014
PMID: 25356766
Relationship between membrane Cl- conductance and contractile endurance in isolated rat muscles.
de Paoli FV, Broch-Lips M, Pedersen TH, Nielsen OB., J Physiol 591(2), 2013
PMID: 23045345
Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo.
Borges AS, Barbosa JD, Resende LA, Mota LS, Amorim RM, Carvalho TL, Garcia JF, Oliveira-Filho JP, Oliveira CM, Souza JE, Winand NJ., Neuromuscul Disord 23(3), 2013
PMID: 23339992
An optical assay of the transport activity of ClC-7.
Zanardi I, Zifarelli G, Pusch M., Sci Rep 3(), 2013
PMID: 23390581
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy.
Chen TT, Klassen TL, Goldman AM, Marini C, Guerrini R, Noebels JL., Neurology 80(12), 2013
PMID: 23408874
Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction.
Waters CW, Varuzhanyan G, Talmadge RJ, Voss AA., Proc Natl Acad Sci U S A 110(22), 2013
PMID: 23671115
Fluoride-dependent interruption of the transport cycle of a CLC Cl-/H+ antiporter.
Lim HH, Stockbridge RB, Miller C., Nat Chem Biol 9(11), 2013
PMID: 24036509
Elucidating nature's solutions to heart, lung, and blood diseases and sleep disorders.
Carey HV, Martin SL, Horwitz BA, Yan L, Bailey SM, Podrabsky J, Storz JF, Ortiz RM, Wong RP, Lathrop DA., Circ Res 110(7), 2012
PMID: 22461362
Fatigue-inducing stimulation resolves myotonia in a drug-induced model.
van Lunteren E, Spiegler SE, Moyer M., BMC Physiol 11(), 2011
PMID: 21356096
Identification of secondary effects of hyperexcitability by proteomic profiling of myotonic mouse muscle.
Staunton L, Jockusch H, Wiegand C, Albrecht T, Ohlendieck K., Mol Biosyst 7(8), 2011
PMID: 21629954
Impaired Wheel Running Exercise in CLC-1 Chloride Channel-Deficient Myotonic Mice.
van Lunteren E, Moyer M, Cooperrider J, Pollarine J., Front Physiol 2(), 2011
PMID: 21886624
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG, CINCH Investigators., Brain 133(pt 1), 2010
PMID: 19917643
Clcn5 knockout mice exhibit novel immunomodulatory effects and are more susceptible to dextran sulfate sodium-induced colitis.
Alex P, Ye M, Zachos NC, Sipes J, Nguyen T, Suhodrev M, Gonzales L, Arora Z, Zhang T, Centola M, Guggino SE, Li X., J Immunol 184(7), 2010
PMID: 20181886
CLC channels and transporters: proteins with borderline personalities.
Accardi A, Picollo A., Biochim Biophys Acta 1798(8), 2010
PMID: 20188062
Physiology and pathophysiology of ClC-K/barttin channels.
Fahlke C, Fischer M., Front Physiol 1(), 2010
PMID: 21423394
Physiological roles of CLC Cl(-)/H (+) exchangers in renal proximal tubules.
Plans V, Rickheit G, Jentsch TJ., Pflugers Arch 458(1), 2009
PMID: 18853181
Residues important for nitrate/proton coupling in plant and mammalian CLC transporters.
Bergsdorf EY, Zdebik AA, Jentsch TJ., J Biol Chem 284(17), 2009
PMID: 19261613
Transposons that clean up after themselves.
Chalker DL., Genome Biol 10(6), 2009
PMID: 19589181
Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers.
Pedersen TH, de Paoli FV, Flatman JA, Nielsen OB., J Gen Physiol 134(4), 2009
PMID: 19786584
Genetic CLC-1 chloride channel deficiency modifies diaphragm muscle isometric contractile properties.
van Lunteren E, Moyer M, Pollarine J., Respir Physiol Neurobiol 155(3), 2007
PMID: 16959550
Identification of ClC-2 and CIC-K2 chloride channels in cultured rat type IV spiral ligament fibrocytes.
Qu C, Liang F, Smythe NM, Schulte BA., J Assoc Res Otolaryngol 8(2), 2007
PMID: 17334850
A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog.
Finnigan DF, Hanna WJ, Poma R, Bendall AJ., J Vet Intern Med 21(3), 2007
PMID: 17552451
Synthetic, biologically active amphiphilic peptides.
Yamnitz CR, Gokel GW., Chem Biodivers 4(6), 2007
PMID: 17589872
Channel or transporter? The CLC saga continues.
Pusch M, Zifarelli G, Murgia AR, Picollo A, Babini E., Exp Physiol 91(1), 2006
PMID: 16179405
ClC chloride channels viewed through a transporter lens.
Miller C., Nature 440(7083), 2006
PMID: 16554809
Large movement in the C terminus of CLC-0 chloride channel during slow gating.
Bykova EA, Zhang XD, Chen TY, Zheng J., Nat Struct Mol Biol 13(12), 2006
PMID: 17115052
Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel.
Papponen H, Kaisto T, Myllylä VV, Myllylä R, Metsikkö K., Exp Neurol 191(1), 2005
PMID: 15589523
Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models.
Jentsch TJ, Poët M, Fuhrmann JC, Zdebik AA., Annu Rev Physiol 67(), 2005
PMID: 15709978
Genetic determinants of weight of fast- and slow-twitch skeletal muscle in 500-day-old mice of the C57BL/6J and DBA/2J lineage.
Lionikas A, Blizard DA, Gerhard GS, Vandenbergh DJ, Stout JT, Vogler GP, McClearn GE, Larsson L., Physiol Genomics 21(2), 2005
PMID: 15687484
Unique structure and function of chloride transporting CLC proteins.
Pusch M, Jentsch TJ., IEEE Trans Nanobioscience 4(1), 2005
PMID: 15816171
Inhibition of ClC-2 chloride channels by a peptide component or components of scorpion venom.
Thompson CH, Fields DM, Olivetti PR, Fuller MD, Zhang ZR, Kubanek J, McCarty NA., J Membr Biol 208(1), 2005
PMID: 16596447
Functional and structural conservation of CBS domains from CLC chloride channels.
Estévez R, Pusch M, Ferrer-Costa C, Orozco M, Jentsch TJ., J Physiol 557(pt 2), 2004
PMID: 14724190
Specific isomyosin proportions in hyperexcitable and physiologically denervated mouse muscle.
Agbulut O, Noirez P, Butler-Browne G, Jockusch H., FEBS Lett 561(1-3), 2004
PMID: 15013776
New potent mexiletine and tocainide analogues evaluated in vivo and in vitro as antimyotonic agents on the myotonic ADR mouse.
De Luca A, Pierno S, Liantonio A, Desaphy JF, Natuzzi F, Didonna MP, Ferrannini E, Jockusch H, Franchini C, Lentini G, Corbo F, Tortorella V, Camerino DC., Neuromuscul Disord 14(7), 2004
PMID: 15210163
Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy.
O'Cochlain DF, Perez-Terzic C, Reyes S, Kane GC, Behfar A, Hodgson DM, Strommen JA, Liu XK, van den Broek W, Wansink DG, Wieringa B, Terzic A., Hum Mol Genet 13(20), 2004
PMID: 15317754
Ion channels: function unravelled by dysfunction.
Jentsch TJ, Hübner CA, Fuhrmann JC., Nat Cell Biol 6(11), 2004
PMID: 15516997
The chloride channel ClC-4 contributes to endosomal acidification and trafficking.
Mohammad-Panah R, Harrison R, Dhani S, Ackerley C, Huan LJ, Wang Y, Bear CE., J Biol Chem 278(31), 2003
PMID: 12746443
Myotonia and disorders of altered muscle cell membrane excitability.
Vite CH., Vet Clin North Am Small Anim Pract 32(1), 2002
PMID: 11785728
Molecular structure and physiological function of chloride channels.
Jentsch TJ, Stein V, Weinreich F, Zdebik AA., Physiol Rev 82(2), 2002
PMID: 11917096
Increased expression of the human Ca2+-activated Cl- channel 1 (CaCC1) gene in the asthmatic airway.
Hoshino M, Morita S, Iwashita H, Sagiya Y, Nagi T, Nakanishi A, Ashida Y, Nishimura O, Fujisawa Y, Fujino M., Am J Respir Crit Care Med 165(8), 2002
PMID: 11956057
The ClC-3 chloride channel promotes acidification of lysosomes in CHO-K1 and Huh-7 cells.
Li X, Wang T, Zhao Z, Weinman SA., Am J Physiol Cell Physiol 282(6), 2002
PMID: 11997263
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.
Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA., Mol Cell 10(1), 2002
PMID: 12150905
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing.
Charlet-B N, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA., Mol Cell 10(1), 2002
PMID: 12150906
Unusual expression of LINE-1 transposable element in the MRL autoimmune lymphoproliferative syndrome-prone strain.
Benihoud K, Bonardelle D, Soual-Hoebeke E, Durand-Gasselin I, Emilie D, Kiger N, Bobé P., Oncogene 21(36), 2002
PMID: 12165858
A novel alteration of muscle chloride channel gating in myotonia levior.
Ryan A, Rüdel R, Kuchenbecker M, Fahlke C., J Physiol 545(2), 2002
PMID: 12456816
Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus.
Stobrawa SM, Breiderhoff T, Takamori S, Engel D, Schweizer M, Zdebik AA, Bösl MR, Ruether K, Jahn H, Draguhn A, Jahn R, Jentsch TJ., Neuron 29(1), 2001
PMID: 11182090
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
Kornak U, Kasper D, Bösl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ., Cell 104(2), 2001
PMID: 11207362
Biology of mammalian L1 retrotransposons.
Ostertag EM, Kazazian HH., Annu Rev Genet 35(), 2001
PMID: 11700292
Muscle LIM protein is upregulated in fast skeletal muscle during transition toward slower phenotypes.
Willmann R, Kusch J, Sultan KR, Schneider AG, Pette D., Am J Physiol Cell Physiol 280(2), 2001
PMID: 11208521
Inhibitory effect of endothelin-1 on the isoproterenol-induced chloride current in human cardiac myocytes.
Tsai CS, Cheng TH, Lin CI, Chen JJ, Lee FY, Li CY, Hong HJ, Loh SH., Eur J Pharmacol 424(2), 2001
PMID: 11476755
KGF alters gene expression in human airway epithelia: potential regulation of the inflammatory response.
Prince LS, Karp PH, Moninger TO, Welsh MJ., Physiol Genomics 6(2), 2001
PMID: 11459923
Homologation of mexiletine alkyl chain and stereoselective blockade of skeletal muscle sodium channels.
Duranti A, Franchini C, Lentini G, Loiodice F, Tortorella V, De Luca A, Pierno S, Conte Camerino D., Eur J Med Chem 35(1), 2000
PMID: 10733611
Benzo(a)pyrene activates L1Md retrotransposon and inhibits DNA repair in vascular smooth muscle cells.
Lu KP, Hallberg LM, Tomlinson J, Ramos KS., Mutat Res 454(1-2), 2000
PMID: 11035157
Disruption of lens fiber cell architecture in mice expressing a chimeric AQP0-LTR protein.
Shiels A, Mackay D, Bassnett S, Al-Ghoul K, Kuszak J., FASEB J 14(14), 2000
PMID: 11053241
A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog.
Rhodes TH, Vite CH, Giger U, Patterson DF, Fahlke C, George AL., FEBS Lett 456(1), 1999
PMID: 10452529
[Ion-channel related muscular diseases].
Fontaine B., Rev Med Interne 20(9), 1999
PMID: 10522299
Voltage-gated ion channels and hereditary disease.
Lehmann-Horn F, Jurkat-Rott K., Physiol Rev 79(4), 1999
PMID: 10508236
Disruption of clh-1, a chloride channel gene, results in a wider body of Caenorhabditis elegans.
Petalcorin MI, Oka T, Koga M, Ogura K, Wada Y, Ohshima Y, Futai M., J Mol Biol 294(2), 1999
PMID: 10610763
ClC and CFTR chloride channel gating.
Foskett JK., Annu Rev Physiol 60(), 1998
PMID: 9558482
IRS-PCR-based genetic mapping of the huntingtin interacting protein gene (HIP1) on mouse chromosome 5.
Himmelbauer H, Wedemeyer N, Haaf T, Wanker EE, Schalkwyk LC, Lehrach H., Mamm Genome 9(1), 1998
PMID: 9434941
Ataxia, arrhythmia and ion-channel gene defects.
Doyle JL, Stubbs L., Trends Genet 14(3), 1998
PMID: 9540405
The impact of L1 retrotransposons on the human genome.
Kazazian HH, Moran JV., Nat Genet 19(1), 1998
PMID: 9590283
Mobile elements and disease.
Kazazian HH., Curr Opin Genet Dev 8(3), 1998
PMID: 9690999
Loss of adenylyl cyclase I activity disrupts patterning of mouse somatosensory cortex.
Abdel-Majid RM, Leong WL, Schalkwyk LC, Smallman DS, Wong ST, Storm DR, Fine A, Dobson MJ, Guernsey DL, Neumann PE., Nat Genet 19(3), 1998
PMID: 9662407
The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.
Letts VA, Felix R, Biddlecome GH, Arikkath J, Mahaffey CL, Valenzuela A, Bartlett FS, Mori Y, Campbell KP, Frankel WN., Nat Genet 19(4), 1998
PMID: 9697694
Transcripts of the transposon mariner are present in epileptic brain.
Xie H, Brines ML, de Lanerolle NC., Epilepsy Res 32(1-2), 1998
PMID: 9761316
Ion channel mutations affecting muscle and brain.
Barchi RL., Curr Opin Neurol 11(5), 1998
PMID: 9847995
Chloride is an allosteric effector of copper assembly for the yeast multicopper oxidase Fet3p: an unexpected role for intracellular chloride channels.
Davis-Kaplan SR, Askwith CC, Bengtzen AC, Radisky D, Kaplan J., Proc Natl Acad Sci U S A 95(23), 1998
PMID: 9811853
Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice.
Krämer R, Lochmüller H, Abicht A, Rüdel R, Brinkmeier H., Neuromuscul Disord 8(8), 1998
PMID: 10093060
Mutual interference of myotonia and muscular dystrophy in the mouse: a study on ADR-MDX double mutants.
Heimann P, Augustin M, Wieneke S, Heising S, Jockusch H., Neuromuscul Disord 8(8), 1998
PMID: 10093061
Chloride channels in the sarcoplasmic reticulum of muscle.
Kourie JI., Prog Biophys Mol Biol 68(2-3), 1997
PMID: 9652173
Temperature dependence of fast and slow gating relaxations of ClC-0 chloride channels.
Pusch M, Ludewig U, Jentsch TJ., J Gen Physiol 109(1), 1997
PMID: 8997669
Ion channel mutations and diseases of skeletal muscle.
Barchi RL., Neurobiol Dis 4(3-4), 1997
PMID: 9361302
Chloride channels: an emerging molecular picture.
Jentsch TJ, Günther W., Bioessays 19(2), 1997
PMID: 9046241
The molecular basis of the obese mutation in ob2J mice.
Moon BC, Friedman JM., Genomics 42(1), 1997
PMID: 9177786
Transmembrane topology of a CLC chloride channel.
Schmidt-Rose T, Jentsch TJ., Proc Natl Acad Sci U S A 94(14), 1997
PMID: 9207144
Independent gating of single pores in CLC-0 chloride channels.
Ludewig U, Pusch M, Jentsch TJ., Biophys J 73(2), 1997
PMID: 9251795
Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus.
Adler DA, Rugarli EI, Lingenfelter PA, Tsuchiya K, Poslinski D, Liggitt HD, Chapman VM, Elliott RW, Ballabio A, Disteche CM., Proc Natl Acad Sci U S A 94(17), 1997
PMID: 9256467
Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl- channel 1 gene dosage.
Chen MF, Niggeweg R, Iaizzo PA, Lehmann-Horn F, Jockusch H., J Physiol 504 ( Pt 1)(), 1997
PMID: 9350619
Mechanism of ion permeation in skeletal muscle chloride channels.
Fahlke C, Dürr C, George AL., J Gen Physiol 110(5), 1997
PMID: 9348327
Pore-forming segments in voltage-gated chloride channels.
Fahlke C, Yu HT, Beck CL, Rhodes TH, George AL., Nature 390(6659), 1997
PMID: 9394005
Splicing removes the Caenorhabditis elegans transposon Tc1 from most mutant pre-mRNAs.
Rushforth AM, Anderson P., Mol Cell Biol 16(1), 1996
PMID: 8524324
Novel muscle chloride channel mutations and their effects on heterozygous carriers.
Mailänder V, Heine R, Deymeer F, Lehmann-Horn F., Am J Hum Genet 58(2), 1996
PMID: 8571958
Mechanism of voltage-dependent gating in skeletal muscle chloride channels.
Fahlke C, Rosenbohm A, Mitrovic N, George AL, Rüdel R., Biophys J 71(2), 1996
PMID: 8842208
Isolation of retinoic acid-repressed genes from P19 embryonal carcinoma cells.
Nakshatri H, Bouillet P, Bhat-Nakshatri P, Chambon P., Gene 174(1), 1996
PMID: 8863732
Molecular basis for decreased muscle chloride conductance in the myotonic goat.
Beck CL, Fahlke C, George AL., Proc Natl Acad Sci U S A 93(20), 1996
PMID: 8855341
Nonequilibrium gating and voltage dependence of the ClC-0 Cl- channel.
Chen TY, Miller C., J Gen Physiol 108(4), 1996
PMID: 8894974
Expression of chloride channel 1 mRNA in cultured myogenic cells: a marker of myotube maturation.
Bardouille C, Vullhorst D, Jockusch H., FEBS Lett 396(2-3), 1996
PMID: 8914983
Heteromultimeric CLC chloride channels with novel properties.
Lorenz C, Pusch M, Jentsch TJ., Proc Natl Acad Sci U S A 93(23), 1996
PMID: 8917596
Concentration and pH dependence of skeletal muscle chloride channel ClC-1.
Rychkov GY, Pusch M, Astill DS, Roberts ML, Jentsch TJ, Bretag AH., J Physiol 497 ( Pt 2)(), 1996
PMID: 8961185
Properties of voltage-gated chloride channels of the ClC gene family.
Jentsch TJ, Günther W, Pusch M, Schwappach B., J Physiol 482(), 1995
PMID: 7730971
Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15.
Kohrman DC, Plummer NW, Schuster T, Jones JM, Jang W, Burgess DL, Galt J, Spear BT, Meisler MH., Genomics 26(2), 1995
PMID: 7601440
Chloride currents across the membrane of mammalian skeletal muscle fibres.
Fahlke C, Rüdel R., J Physiol 484 ( Pt 2)(), 1995
PMID: 7602531
A plethora of cardiac chloride conductances: molecular diversity or a related gene family.
Hume JR, Horowitz B., J Cardiovasc Electrophysiol 6(4), 1995
PMID: 7544194
Molecular basis of epithelial Cl channels.
Fong P, Jentsch TJ., J Membr Biol 144(3), 1995
PMID: 7658457
Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice.
Gurnett CA, Kahl SD, Anderson RD, Campbell KP., J Biol Chem 270(16), 1995
PMID: 7721815
A new inherited muscular disorder in Japanese quails (Coturnix coturnix japonica).
Braga IS, Oda K, Kikuchi T, Tanaka S, Shin Y, Sento M, Itakura C, Mizutani M., Vet Pathol 32(4), 1995
PMID: 7483209
An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels.
Fahlke C, Rüdel R, Mitrovic N, Zhou M, George AL., Neuron 15(2), 1995
PMID: 7646898
Molecular genetics of ion channel diseases.
George AL., Kidney Int 48(4), 1995
PMID: 8569079
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC., Am J Hum Genet 57(6), 1995
PMID: 8533761
Cl- channels in basolateral renal medullary vesicles. X. Cloning of a Cl- channel from rabbit outer medulla.
Zimniak L, Winters CJ, Reeves WB, Andreoli TE., Kidney Int 48(6), 1995
PMID: 8587242
Low single channel conductance of the major skeletal muscle chloride channel, ClC-1.
Pusch M, Steinmeyer K, Jentsch TJ., Biophys J 66(1), 1994
PMID: 8130334
Mouse homologues of human hereditary disease.
Searle AG, Edwards JH, Hall JG., J Med Genet 31(1), 1994
PMID: 8151633
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
Steinmeyer K, Lorenz C, Pusch M, Koch MC, Jentsch TJ., EMBO J 13(4), 1994
PMID: 8112288
Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia.
Jockusch H, Kaupmann K, Gronemeier M, Schleef M, Klocke R., Prog Neurobiol 42(2), 1994
PMID: 8008830
Cloning and expression of a protein kinase C-regulated chloride channel abundantly expressed in rat brain neuronal cells.
Kawasaki M, Uchida S, Monkawa T, Miyawaki A, Mikoshiba K, Marumo F, Sasaki S., Neuron 12(3), 1994
PMID: 8155321
Exclusion of two candidate genes, Spnb-2 and Dcd, for the wobbler spinal muscular atrophy gene on proximal mouse chromosome 11.
Lengeling A, Zimmer WE, Goodman SR, Ma Y, Bloom ML, Bruneau G, Krieger M, Thibault J, Kaupmann K, Jockusch H., Mamm Genome 5(3), 1994
PMID: 8199405
Aging and chloride channel regulation in rat fast-twitch muscle fibres.
De Luca A, Tricarico D, Pierno S, Conte Camerino D., Pflugers Arch 427(1-2), 1994
PMID: 8058478
Pharmacological interventions for the changes of chloride channel conductance of aging rat skeletal muscle.
De Luca A, Pierno S, Conte Camerino D., Ann N Y Acad Sci 717(), 1994
PMID: 8030835
Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.
Kingsmore SF, Kingsmore SF, Giros B, Suh D, Bieniarz M, Caron MG, Seldin MF., Nat Genet 7(2), 1994
PMID: 7920630
Molecular physiology of anion channels.
Jentsch TJ., Curr Opin Cell Biol 6(4), 1994
PMID: 7986538
Cardiac chloride channels.
Ackerman MJ, Clapham DE., Trends Cardiovasc Med 3(1), 1993
PMID: 21244967
Splicing of a human endogenous retrovirus to a novel phospholipase A2 related gene.
Feuchter-Murthy AE, Freeman JD, Mager DL., Nucleic Acids Res 21(1), 1993
PMID: 8382789
Genetics and physiology of the myotonic muscle disorders.
Ptacek LJ, Johnson KJ, Griggs RC., N Engl J Med 328(7), 1993
PMID: 7678441
Genetic analysis of diabetes and insulitis in an interspecific cross of the nonobese diabetic mouse with Mus spretus.
de Gouyon B, Melanitou E, Richard MF, Requarth M, Hahn IH, Guenet JL, Demenais F, Julier C, Lathrop GM, Boitard C., Proc Natl Acad Sci U S A 90(5), 1993
PMID: 8446602
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
George AL, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC., Nat Genet 3(4), 1993
PMID: 7981750
Regulation of resting ionic conductances in frog skeletal muscle.
Tricarico D, Wagner R, Bryant SH, Camerino DC., Pflugers Arch 423(3-4), 1993
PMID: 8321621
Chloride channels.
Jentsch TJ., Curr Opin Neurobiol 3(3), 1993
PMID: 8396475
Transposable elements as introns: evolutionary connections.
Purugganan MD., Trends Ecol Evol 8(7), 1993
PMID: 21236158
Development of electrical myotonia in the ADR mouse: role of chloride conductance in myotubes and neonatal animals.
Wischmeyer E, Nolte E, Klocke R, Jockusch H, Brinkmeier H., Neuromuscul Disord 3(4), 1993
PMID: 8268723
Retroviruses, apoptosis and autogenes.
Mountz JD, Talal N., Immunol Today 14(11), 1993
PMID: 8274195
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
Koch MC, Ricker K, Otto M, Wolf F, Zoll B, Lorenz C, Steinmeyer K, Jentsch TJ., J Med Genet 30(11), 1993
PMID: 8301644
Chromosomal mapping in the mouse of eight K(+)-channel genes representing the four Shaker-like subfamilies Shaker, Shab, Shaw, and Shal.
Klocke R, Roberds SL, Tamkun MM, Gronemeier M, Augustin A, Albrecht B, Pongs O, Jockusch H., Genomics 18(3), 1993
PMID: 7905852
The ClC family of voltage-gated chloride channels: structure and function.
Jentsch TJ, Pusch M, Rehfeldt A, Steinmeyer K., Ann N Y Acad Sci 707(), 1993
PMID: 9137559
The structure of the mouse parvalbumin gene.
Schleef M, Zühlke C, Jockusch H, Schöffl F., Mamm Genome 3(4), 1992
PMID: 1611216
New nucleotide sequence data on the EMBL File Server.
, Nucleic Acids Res 20(3), 1992
PMID: 1741309
Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.
Abdalla JA, Casley WL, Cousin HK, Hudson AJ, Murphy EG, Cornélis FC, Hashimoto L, Ebers GC., Am J Hum Genet 51(3), 1992
PMID: 1386711
Identification and modulation of a voltage-dependent anion channel in the plasma membrane of guard cells by high-affinity ligands.
Marten I, Zeilinger C, Redhead C, Landry DW, al-Awqati Q, Hedrich R., EMBO J 11(10), 1992
PMID: 1382976
The periodic paralyses.
Griggs RC, Ptácek LJ., Hosp Pract (Off Ed) 27(11), 1992
PMID: 1331137
Immunological identification of a Cl- channel protein in electric organs of Narke japonica.
Taguchi T, Kawasaki T, Kasai M., Biochem Biophys Res Commun 188(3), 1992
PMID: 1332714

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