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Items: 1 to 20 of 58

1.
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
AbstractArticlePDF–3.8M
2.
Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people
Yan-Xin Meng, Mei Yu, Chunmiao Liu, Haijuan Zhang, Yuxiu Yang, Jing Zhang
Medicine (Baltimore) 2022 Jul 22; 101(29): e29591. Published online 2022 Jul 22. doi: 10.1097/MD.0000000000029591
PMCID:
PMC9302320
AbstractArticlePDF–746K
3.
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis
Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang
Mol Genet Genomic Med. 2021 Nov; 9(11): e1815. Published online 2021 Sep 21. doi: 10.1002/mgg3.1815
PMCID:
PMC8606217
AbstractArticlePDF–1.4M
4.
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
AbstractArticlePDF–700K
5.
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients
Oscar Brenes, Raffaella Barbieri, Melissa Vásquez, Rebeca Vindas-Smith, Jeffrey Roig, Adarli Romero, Gerardo del Valle, Luis Bermúdez-Guzmán, Sara Bertelli, Michael Pusch, Fernando Morales
Cells. 2021 Feb; 10(2): 374. Published online 2021 Feb 11. doi: 10.3390/cells10020374
PMCID:
PMC7918176
AbstractArticlePDF–26M
6.
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
AbstractArticlePDF–922K
7.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
8.
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis
Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino
Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9
PMCID:
PMC6778137
AbstractArticlePDF–7.8M
9.
FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane
Yi-Jheng Peng, Yi-Ching Lee, Ssu-Ju Fu, Yun-Chia Chien, Yi-Fan Liao, Tsung-Yu Chen, Chung-Jiuan Jeng, Chih-Yung Tang
Int J Mol Sci. 2018 Dec; 19(12): 3783. Published online 2018 Nov 28. doi: 10.3390/ijms19123783
PMCID:
PMC6320802
AbstractArticlePDF–3.8M
10.
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
AbstractArticlePDF–6.3M
11.
Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations
Hong-Fu Li, Wan-Jin Chen, Wang Ni, Zhi-Ying Wu
Neurosci Bull. 2014 Dec; 30(6): 1010–1016. Published online 2014 Sep 5. doi: 10.1007/s12264-014-1467-7
PMCID:
PMC5562558
AbstractArticlePDF–340K
12.
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature
Xinglong Yang, Hua Jia, Ran An, Jing Xi, Yanming Xu
Channels (Austin) 2017; 11(1): 55–65. Published online 2016 Jul 14. doi: 10.1080/19336950.2016.1212140
PMCID:
PMC5279883
AbstractArticlePDF–917K
13.
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
AbstractArticle
14.
Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β
Yi-Jheng Peng, Jing-Jia Huang, Hao-Han Wu, Hsin-Ying Hsieh, Chia-Ying Wu, Shu-Ching Chen, Tsung-Yu Chen, Chih-Yung Tang
Sci Rep. 2016; 6: 32444. Published online 2016 Sep 1. doi: 10.1038/srep32444
PMCID:
PMC5007535
AbstractArticlePDF–3.0M
15.
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
AbstractArticlePDF–1.3M
16.
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
AbstractArticlePDF–456K
17.
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations
Katharina Ronstedt, Damien Sternberg, Silvia Detro-Dassen, Thomas Gramkow, Birgit Begemann, Toni Becher, Petra Kilian, Matthias Grieschat, Jan-Philipp Machtens, Günther Schmalzing, Martin Fischer, Christoph Fahlke
Sci Rep. 2015; 5: 15382. Published online 2015 Oct 27. doi: 10.1038/srep15382
PMCID:
PMC4621517
AbstractArticlePDF–1.3M
18.
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
AbstractArticlePDF–1.1M
19.
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita
Simona Portaro, Concetta Altamura, Norma Licata, Giulia M. Camerino, Paola Imbrici, Olimpia Musumeci, Carmelo Rodolico, Diana Conte Camerino, Antonio Toscano, Jean-François Desaphy
Neuromolecular Med. 2015; 17(3): 285–296. Published online 2015 May 26. doi: 10.1007/s12017-015-8356-8
PMCID:
PMC4534513
AbstractArticlePDF–1.8M
20.
The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels
Yi-An Chen, Yi-Jheng Peng, Meng-Chun Hu, Jing-Jia Huang, Yun-Chia Chien, June-Tai Wu, Tsung-Yu Chen, Chih-Yung Tang
Sci Rep. 2015; 5: 10667. Published online 2015 May 29. doi: 10.1038/srep10667
PMCID:
PMC4448132
AbstractArticlePDF–2.1M

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