| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Tomoya Kubota, Masayuki Nakamori, Masanori P Takahash. [Myotonia and cardiac conduction defects in myotonic dystrophy and defect in ion channels]. Rinsho byori. The Japanese journal of clinical pathology. vol 62. issue 3. 2014-09-18. PMID:24800500. |
in particular, several studies, including ours, have shown that myotonia is caused by alternative splicing of the clcn1 gene coding the voltage-gated chloride channel in skeletal muscle through an "rna-dominant mechanism". |
2014-09-18 |
2023-08-13 |
Not clear |
| Raffaella Brugnoni, Dimos Kapetis, Paola Imbrici, Mauro Pessia, Eleonora Canioni, Lara Colleoni, Nicole Kerlero de Rosbo, Lucia Morandi, Paola Cudia, Nasrin Gashemi, Pia Bernasconi, Jean-Francois Desaphy, Diana Conte, Renato Mantegazz. A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. Journal of human genetics. vol 58. issue 9. 2014-04-02. PMID:23739125. |
myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia) and caused by mutations in the chloride channel voltage-sensitive 1 (clcn1) gene, encoding the voltage-gated chloride channel of skeletal muscle (clc-1). |
2014-04-02 |
2023-08-12 |
Not clear |
| K Hoppe, F Lehmann-Horn, S Chaiklieng, K Jurkat-Rott, O Adolph, W Klingle. In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita. Acta anaesthesiologica Scandinavica. vol 57. issue 8. 2014-03-06. PMID:23639175. |
a common form of congenital myotonia, myotonia congenita (mc), is caused by mutations in the skeletal muscle cl(-) channel gene type 1 (clcn1). |
2014-03-06 |
2023-08-12 |
Not clear |
| Jasper M Morrow, Emma Matthews, Dipa L Raja Rayan, Arne Fischmann, Christopher D J Sinclair, Mary M Reilly, John S Thornton, Michael G Hanna, Tarek A Yousr. Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. Neuromuscular disorders : NMD. vol 23. issue 8. 2014-03-05. PMID:23810313. |
we reviewed t1-weighted and stir (short-tau-inversion-recovery) 3t mri sequences of lower limb muscles at thigh and calf level in 21 patients with genetically confirmed non-dystrophic myotonia: 11 with clcn1 mutations and 10 with scn4a mutations, and 19 healthy volunteers. |
2014-03-05 |
2023-08-12 |
human |
| Ryogen Sasaki, Masanori P Takahashi, Yosuke Kokunai, Masaaki Hirayama, Toru Ibi, Hidekazu Tomimoto, Hideki Mochizuki, Ko Sahash. [Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease]. Rinsho shinkeigaku = Clinical neurology. vol 53. issue 4. 2014-02-28. PMID:23603549. |
autosomal-dominant type of myotonia (thomsen's disease) and autosomal-recessive one (becker's disease) are caused by mutations in the skeletal muscle voltage-gated chloride channel gene (clcn1). |
2014-02-28 |
2023-08-12 |
Not clear |
| Ryogen Sasaki, Masanori P Takahashi, Yosuke Kokunai, Masaaki Hirayama, Toru Ibi, Hidekazu Tomimoto, Hideki Mochizuki, Ko Sahash. [Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease]. Rinsho shinkeigaku = Clinical neurology. vol 53. issue 4. 2014-02-28. PMID:23603549. |
the family reveals that compound heterozygosity of two dominantly inheritable disease mutations exacerbates the myotonia, suggesting the dosage effect of clcn1 mutation responsible for myotonia congenita of thomsen type. |
2014-02-28 |
2023-08-12 |
Not clear |
| Michinori Koebis, Tamami Kiyatake, Hiroshi Yamaura, Kanako Nagano, Mana Higashihara, Masahiro Sonoo, Yukiko Hayashi, Yoichi Negishi, Yoko Endo-Takahashi, Dai Yanagihara, Ryoichi Matsuda, Masanori P Takahashi, Ichizo Nishino, Shoichi Ishiur. Ultrasound-enhanced delivery of morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice. Scientific reports. vol 3. 2014-02-21. PMID:23873129. |
phosphorodiamidate morpholino oligonucleotide (pmo)-mediated control of the alternative splicing of the chloride channel 1 (clcn1) gene is a promising treatment for myotonic dystrophy type 1 (dm1) because the abnormal splicing of this gene causes myotonia in patients with dm1. |
2014-02-21 |
2023-08-12 |
mouse |
| Michinori Koebis, Tamami Kiyatake, Hiroshi Yamaura, Kanako Nagano, Mana Higashihara, Masahiro Sonoo, Yukiko Hayashi, Yoichi Negishi, Yoko Endo-Takahashi, Dai Yanagihara, Ryoichi Matsuda, Masanori P Takahashi, Ichizo Nishino, Shoichi Ishiur. Ultrasound-enhanced delivery of morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice. Scientific reports. vol 3. 2014-02-21. PMID:23873129. |
effective delivery of pmo led to increased expression of clcn1 protein in skeletal muscle and the amelioration of myotonia. |
2014-02-21 |
2023-08-12 |
mouse |
| Kosuke Oana, Yoko Oma, Satoshi Suo, Masanori P Takahashi, Ichizo Nishino, Shin'ichi Takeda, Shoichi Ishiur. Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice. Scientific reports. vol 3. 2013-09-30. PMID:23828222. |
myotonia (delayed muscle relaxation) is the most commonly observed symptom in dm1 patients and is caused by aberrant splicing of the skeletal muscle chloride channel (clcn1) gene. |
2013-09-30 |
2023-08-12 |
mouse |
| Michael K Hehir, Eric Logigian, Dipa L Raja Rayan, Emma Ciafalon. Double trouble in a patient with myotonia. BMJ case reports. vol 2013. 2013-09-24. PMID:23417379. |
non-dystrophic myotonias (ndm) are characterised by muscle stiffness during voluntary movement owing to delayed skeletal muscle relaxation caused by mutations in the chloride (clcn1) and sodium (scn4a) skeletal muscle channel genes. |
2013-09-24 |
2023-08-12 |
Not clear |
| Amanda Amrita Lakraj, Geoffrey Miller, Alexander O Vortmeyer, Babar Khokhar, Richard J Nowak, Daniel B DiCapu. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. The Yale journal of biology and medicine. vol 86. issue 1. 2013-08-29. PMID:23483815. |
myotonia congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel clcn1. |
2013-08-29 |
2023-08-12 |
Not clear |
| Alexandre S Borges, José D Barbosa, Luiz Antônio L Resende, Lígia S L S Mota, Rogério M Amorim, Thaís L Carvalho, José F Garcia, José P Oliveira-Filho, Carlos M C Oliveira, Jorge Estefano S Souza, Nena J Winan. Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo. Neuromuscular disorders : NMD. vol 23. issue 3. 2013-08-15. PMID:23339992. |
hereditary myotonia caused by mutations in clcn1 has been previously described in humans, goats, dogs, mice and horses. |
2013-08-15 |
2023-08-12 |
mouse |
| E A Ivanova, E L Dadali, V P Fedotov, S A Kurbatov, G E Rudenskaia, T N Proskokova, A V Poliako. [The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias]. Genetika. vol 48. issue 9. 2013-02-01. PMID:23113340. |
[the spectrum of clcn1 gene mutations in patients with nondystrophic thomsen's and becker's myotonias]. |
2013-02-01 |
2023-08-12 |
Not clear |
| E A Ivanova, E L Dadali, V P Fedotov, S A Kurbatov, G E Rudenskaia, T N Proskokova, A V Poliako. [The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias]. Genetika. vol 48. issue 9. 2013-02-01. PMID:23113340. |
molecular genetic analysis of the clcn1 gene has been performed in patients with diagnoses of nondystrophic thomsen's and becker's myotonias living in the russian federation. |
2013-02-01 |
2023-08-12 |
Not clear |
| Daniel Zielonka, Karin Jurkat-Rott, Paweł Stachowiak, Anna Bryl, Jerzy T Marcinkowski, Frank Lehmann-Hor. A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris. Neuromuscular disorders : NMD. vol 22. issue 4. 2012-08-01. PMID:22197187. |
a becker myotonia patient with compound heterozygosity for clcn1 mutations and prinzmetal angina pectoris. |
2012-08-01 |
2023-08-12 |
Not clear |
| Inge D Wijnberg, Marta Owczarek-Lipska, Roberta Sacchetto, Francesco Mascarello, Francesco Pascoli, Walter Grünberg, Johannes H van der Kolk, Cord Drögemülle. A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony. Neuromuscular disorders : NMD. vol 22. issue 4. 2012-08-01. PMID:22197188. |
a missense mutation in the skeletal muscle chloride channel 1 (clcn1) as candidate causal mutation for congenital myotonia in a new forest pony. |
2012-08-01 |
2023-08-12 |
Not clear |
| Inge D Wijnberg, Marta Owczarek-Lipska, Roberta Sacchetto, Francesco Mascarello, Francesco Pascoli, Walter Grünberg, Johannes H van der Kolk, Cord Drögemülle. A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony. Neuromuscular disorders : NMD. vol 22. issue 4. 2012-08-01. PMID:22197188. |
the observed phenotype resembled congenital myotonia caused by clcn1 mutations in goats and humans. |
2012-08-01 |
2023-08-12 |
Not clear |
| Inge D Wijnberg, Marta Owczarek-Lipska, Roberta Sacchetto, Francesco Mascarello, Francesco Pascoli, Walter Grünberg, Johannes H van der Kolk, Cord Drögemülle. A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony. Neuromuscular disorders : NMD. vol 22. issue 4. 2012-08-01. PMID:22197188. |
therefore, this clcn1 polymorphism is considered to be a possible cause of congenital myotonia. |
2012-08-01 |
2023-08-12 |
Not clear |
| María J Mazón, Francisco Barros, Pilar De la Peña, Juan F Quesada, Adela Escudero, Ana M Cobo, Samuel I Pascual-Pascual, Eduardo Gutiérrez-Rivas, Encarna Guillén, Javier Arpa, Pilar Eraso, Francisco Portillo, Jesús Molan. Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. Neuromuscular disorders : NMD. vol 22. issue 3. 2012-07-09. PMID:22094069. |
we have studied 48 families with myotonia, 32 out of them carrying mutations in clcn1 gene and eight carry mutations in scn4a gene. |
2012-07-09 |
2023-08-12 |
Not clear |
| C Sun, M Van Ghelue, L Tranebjærg, F Thyssen, Ø Nilssen, T Torbergse. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. Clinical genetics. vol 80. issue 6. 2012-02-16. PMID:21204798. |
currently, four genes are identified to be involved in myotonia: the muscle voltage-gated sodium and chloride channel genes scn4a and clcn1, the myotonic dystrophy protein kinase (dmpk) gene, and the cchc-type zinc finger, nucleic acid binding protein gene cnbp. |
2012-02-16 |
2023-08-12 |
Not clear |