PMC Links for Gene (Select 1180) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 58

<< First< Prev

Page of 3

Select item 110860221.

Clinical and genetic characteristics of myotonia congenita in Chinese population

Yuting He, Yusen Qiu, Ying Xiong, Yu Shen, Kaiyan Jiang, Hancun Yi, Pengcheng Huang, Yu Zhu, Min Zhu, Meihong Zhou, Daojun Hong, Dandan Tan

Channels (Austin) 2024; 18(1): 2349823. Published online 2024 May 8. doi: 10.1080/19336950.2024.2349823

PMCID:: PMC11086022

Abstract Article PDF–3.8M

Select item 80770712.

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin

Mol Genet Genomic Med. 2021 Feb; 9(2): e1588. Published online 2021 Jan 28. doi: 10.1002/mgg3.1588

PMCID:: PMC8077071

Abstract Article PDF–700K

Select item 75797863.

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov

BMC Med Genet. 2020; 21(Suppl 1): 197. Published online 2020 Oct 22. doi: 10.1186/s12881-020-01128-5

PMCID:: PMC7579786

Abstract Article PDF–922K

Select item 60190664.

Structure of the CLC-1 chloride channel from Homo sapiens

Eunyong Park, Roderick MacKinnon

eLife. 2018; 7: e36629. Published online 2018 May 29. doi: 10.7554/eLife.36629

PMCID:: PMC6019066

Abstract Article PDF–6.3M

Select item 50247005.

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

Paola Imbrici, Concetta Altamura, Giulia Maria Camerino, Giuseppe Felice Mangiatordi, Elena Conte, Lorenzo Maggi, Raffaella Brugnoni, Kejla Musaraj, Roberta Caloiero, Domenico Alberga, Renè Massimiliano Marsano, Giulia Ricci, Gabriele Siciliano, Orazio Nicolotti, Marina Mora, Pia Bernasconi, Jean-Francois Desaphy, Renato Mantegazza, Diana Conte Camerino

FASEB J. 2016 Oct; 30(10): 3285–3295. Published online 2016 Jun 20. doi: 10.1096/fj.201500079R

PMCID:: PMC5024700

Abstract Article

Select item 49080216.

Protein kinase C‐dependent regulation of ClC‐1 channels in active human muscle and its effect on fast and slow gating

Anders Riisager, Frank Vincenzo de Paoli, Wei‐Ping Yu, Thomas Holm Pedersen, Tsung‐Yu Chen, Ole Bækgaard Nielsen

J Physiol. 2016 Jun 15; 594(12): 3391–3406. Published online 2016 Mar 20. doi: 10.1113/JP271556

PMCID:: PMC4908021

Abstract Article PDF–1.3M

Select item 48261377.

Myotonia congenita: novel mutations in CLCN1 gene

Xiao-Li Liu, Xiao-Jun Huang, Jun-Yi Shen, Hai-Yan Zhou, Xing-Hua Luan, Tian Wang, Sheng-Di Chen, Ying Wang, Hui-Dong Tang, Li Cao

Channels (Austin) 2015 Sep-Oct; 9(5): 292–298. Published online 2015 Aug 11. doi: 10.1080/19336950.2015.1075676

PMCID:: PMC4826137

Abstract Article PDF–456K

Select item 45942928.

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation

P Imbrici, L Maggi, G F Mangiatordi, M M Dinardo, C Altamura, R Brugnoni, D Alberga, G Lauria Pinter, G Ricci, G Siciliano, R Micheli, G Annicchiarico, G Lattanzi, O Nicolotti, L Morandi, P Bernasconi, J-F Desaphy, R Mantegazza, D Conte Camerino

J Physiol. 2015 Sep 15; 593(Pt 18): 4181–4199. Published online 2015 Jul 14. doi: 10.1113/JP270358

PMCID:: PMC4594292

Abstract Article PDF–1.1M

Select item 40790339.

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

Tiina Suominen, Benedikt Schoser, Olayinka Raheem, Satu Auvinen, Maggie Walter, Ralf Krahe, Hanns Lochmüller, Wolfram Kress, Bjarne Udd

J Neurol. Author manuscript; available in PMC 2014 Jul 2.

Published in final edited form as: J Neurol. 2008 Nov; 255(11): 1731–1736. Published online 2008 Sep 24. doi: 10.1007/s00415-008-0010-z

PMCID:: PMC4079033

Abstract Article PDF–89K

Select item 396904010.

Electrophysiological Characteristics of Six Mutations in hClC-1 of Korean Patients with Myotonia Congenita

Kotdaji Ha, Sung-Young Kim, Chansik Hong, Jongyun Myeong, Jin-Hong Shin, Dae-Seong Kim, Ju-Hong Jeon, Insuk So

Mol Cells. 2014 Mar 31; 37(3): 202–212. Published online 2014 Mar 13. doi: 10.14348/molcells.2014.2267

PMCID:: PMC3969040

Abstract Article PDF–755K

Select item 385963111.

CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová

PLoS One. 2013; 8(12): e82549. Published online 2013 Dec 11. doi: 10.1371/journal.pone.0082549

PMCID:: PMC3859631

Abstract Article PDF–509K

Select item 378132712.

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

Jean-François Desaphy, Gianluca Gramegna, Concetta Altamura, Maria Maddalena Dinardo, Paola Imbrici, Alfred L. George, Jr., Anna Modoni, Mauro LoMonaco, Diana Conte Camerino

Exp Neurol. 2013 Oct; 248: 530–540. doi: 10.1016/j.expneurol.2013.07.018

PMCID:: PMC3781327

Abstract Article

Select item 366230613.

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy

Tim T. Chen, Tara L. Klassen, Alica M. Goldman, Carla Marini, Renzo Guerrini, Jeffrey L. Noebels

Neurology. 2013 Mar 19; 80(12): 1078–1085. doi: 10.1212/WNL.0b013e31828868e7

PMCID:: PMC3662306

Abstract Article PDF–858K

Select item 358448714.

Novel Mutations in the CLCN1 Gene of Myotonia Congenita: 2 Case Reports

Amanda Amrita Lakraj, Geoffrey Miller, Alexander O. Vortmeyer, Babar Khokhar, Richard J. Nowak, Daniel B. DiCapua

Yale J Biol Med. 2013 Mar; 86(1): 101–106. Published online 2013 Mar 12.

PMCID:: PMC3584487

Abstract Article PDF–17M

Select item 357082015.

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

Olayinka Raheem, Sini Penttilä, Tiina Suominen, Mika Kaakinen, James Burge, Andrea Haworth, Richa Sud, Stephanie Schorge, Hannu Haapasalo, Satu Sandell, Kalervo Metsikkö, Michael Hanna, Bjarne Udd

Neurology. 2012 Nov 27; 79(22): 2194–2200. doi: 10.1212/WNL.0b013e31827595e2

PMCID:: PMC3570820

Abstract Article PDF–626K

Select item 357054216.

Myotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride Channels

Ting-Ting Lee, Xiao-Dong Zhang, Chao-Chin Chuang, Jing-Jer Chen, Yi-An Chen, Shu-Ching Chen, Tsung-Yu Chen, Chih-Yung Tang

PLoS One. 2013; 8(2): e55930. Published online 2013 Feb 12. doi: 10.1371/journal.pone.0055930

PMCID:: PMC3570542

Abstract Article PDF–2.6M

Select item 354726217.

Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita

Sebastian Weinberger, Daniel Wojciechowski, Damien Sternberg, Frank Lehmann-Horn, Karin Jurkat-Rott, Toni Becher, Birgit Begemann, Christoph Fahlke, Martin Fischer

J Physiol. 2012 Aug 1; 590(Pt 15): 3449–3464. Published online 2012 May 28. doi: 10.1113/jphysiol.2012.232785