Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Claire Donger"'
1
C-terminal HERG Mutations
Autor: Myriam Berthet, Claire Donger, Hicham Hammoude, Harald Funke, Didier Klug, L. Demay, Ketty Schwartz, Bernard Hainque, Pascale Guicheney, Isabelle Denjoy, Philippe Coumel, Eric Schulze-Bahr, Pascale Richard
Publikováno v: Circulation. 99:1464-1470
Background —The long-QT syndrome (LQTS) is a genetically heterogeneous disease in which 4 genes encoding ion-channel subunits have been identified. Most of the mutations have been determined in the transmembrane domains of the cardiac potassium cha
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1030b6dbae63a001d51525522280b142
https://doi.org/10.1161/01.cir.99.11.1464
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2
Degradation of protein kinase Mα by μ-calpain in a μ-calpain-protein kinase Cα complex
Autor: A. Ducastaing, Patrick Cottin, Claire Donger, Catherine Verret, Sylvie Poussard, Michel Savart, Katia Touyarot
Publikováno v: Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology. 1430:141-148
In previous studies, we isolated and identified a μ-calpain-PKCα complex from rabbit skeletal muscle. At the same time we pointed out that an association between μ-calpain and PKCα could occur at the level of the plasma membrane of muscle cells,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0f6c7dbce6676099b1f9fb2336e598bd
https://doi.org/10.1016/s0167-4838(98)00277-5
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3
Diagnostic performance of QT interval variables from 24-h electrocardiography in the long QT syndrome
Autor: Pascale Guicheney, Nathalie Neyroud, S. Chevret, Philippe Coumel, P. Maison Blanche, Fabio Badilini, J. Fayn, Isabelle Denjoy, Ketty Schwartz, N. Menhabi, Claire Donger, Eric Dausse
Publikováno v: European Heart Journal. 19:158-165
The long QT syndrome is mainly defined by QT interval prolongation (QTc0.44s). However, data obtained in genotyped patients showed that resting QTc measurement alone may be inaccurate for ascertaining the phenotype. The aim of this study was to evalu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::598cde98ab97a8608e55bcb2f906aa4e
https://doi.org/10.1053/euhj.1997.0730
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4
Exclusion of KCNE1 (IsK) as a Candidate Gene for Jervell and Lange-Nielsen Syndrome
Autor: Pascale Guicheney, Christine Petit, Myriam Berthet, Schwarts K, Bennaceur M, Philippe Coumel, Claire Donger, F. Tesson, Isabelle Denjoy
Publikováno v: Journal of Molecular and Cellular Cardiology. 28:2051-2055
The KCNE1 gene encodes a small protein, IsK, of 14.4 kDa, with a single transmembrane domain, and is part of a potassium channel expressed in the heart. This channel is thought to underly the very slow component of the cardiac delayed rectifying curr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7de925945c69d4107f69e90d169c45db
https://doi.org/10.1006/jmcc.1996.0198
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5
Genomic Organization of the KCNQ1 K + Channel Gene and Identification of C-Terminal Mutations in the Long-QT Syndrome
Autor: Ricardo Pesce, Philippe Coumel, Maria Shkolnikova, Ketty Schwartz, Nicolas Vignier, Claire Donger, Pascale Guicheney, Pascale Richard, Nathalie Neyroud, Philippe Chevalier, Bernard Hainque, L. Demay, Isabelle Denjoy
Publikováno v: Circulation Research
Circulation Research, American Heart Association, 1999, 84 (3), pp.290-297. ⟨10.1161/01.res.84.3.290⟩
Circulation Research, 1999, 84 (3), pp.290-297. ⟨10.1161/01.res.84.3.290⟩
ResearcherID
Abstract —The voltage-gated K + channel KVLQT1 is essential for the repolarization phase of the cardiac action potential and for K + homeostasis in the inner ear. Mutations in the human KCNQ1 gene encoding the α subunit of the KVLQT1 channel cause
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f5caa22d1f13e1eaf450c50dd406d4b
https://hal.sorbonne-universite.fr/hal-02330607
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6
Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome
Autor: Françoise Gary, Elisabeth Villain, Ketty Schwartz, Claire Donger, Karim Benali, Isabelle Denjoy, Pascale Guicheney, Antoine Leenhardt, Nathalie Neyroud, Philippe Coumel
Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 1998, 6 (2), pp.129-133. ⟨10.1038/sj.ejhg.5200165⟩
European Journal of Human Genetics, Nature Publishing Group, 1998, 6 (2), pp.129-133. ⟨10.1038/sj.ejhg.5200165⟩
Scopus-Elsevier
International audience; Mutations in KvLQT1, a gene encoding a potassium channel, cause both the recessive Jervell and Lange-Nielsen (JLN) syndrome and the dominant Romano-Ward (RW) syndrome. These diseases are characterised by a prolonged QT interva
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c0caf556e72b307c1dd3f674b33ad6
https://hal.sorbonne-universite.fr/hal-02330596
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7
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome
Autor: Ketty Schwartz, Claire Donger, Philippe Coumel, Pascale Guicheney, Nathalie Neyroud, Bennaceur M, Corinne Cruaud, Isabelle Denjoy, Myriam Berthet, Guy Chivoret
Publikováno v: Circulation
Circulation, American Heart Association, 1997, 96 (9), pp.2778-2781. ⟨10.1161/01.cir.96.9.2778⟩
Scopus-Elsevier
Circulation, 1997, 96 (9), pp.2778-2781. ⟨10.1161/01.cir.96.9.2778⟩
Background KVLQT1 , the gene encoding the α-subunit of a cardiac potassium channel, is the most common cause of the dominant form of long-QT syndrome (LQT1-type), the Romano-Ward syndrome (RWS). The overall phenotype of RWS is characterized by a pro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::358674f55653cbf4575b2e6eca4e9ad4
https://pubmed.ncbi.nlm.nih.gov/9386136
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8
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
Autor: Christine Petit, Sabine Fauré, Pascale Guicheney, Nathalie Neyroud, Ketty Schwartz, Michel Leibovici, Françoise Gary, Claire Donger, Jacques Barhanin, F. Tesson, Isabelle Denjoy, Philippe Coumel
Publikováno v: Nature Genetics
Nature Genetics, Nature Publishing Group, 1997, 15 (2), pp.186-189. ⟨10.1038/ng0297-186⟩
Nature Genetics, 1997, 15 (2), pp.186-189. ⟨10.1038/ng0297-186⟩
International audience; The Jervell and Lange-Nielsen (JLN) syndrome (MIM 220400) is an inherited autosomal recessive disease characterized by a congenital bilateral deafness associated with a QT prolongation on the electrocardiogram, syncopal attack
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2fe24652086bd4bb0c3994d692b95a4
https://hal.sorbonne-universite.fr/hal-02330097
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9
Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)
Autor: Jean Massoulié, Michel Fardeau, Suzanne Bon, Sophie Nicole, Claire Donger, Pascale Guicheney, Françoise Gary, Danielle Chateau, Adolf Pou Serradell, Eric Krejci, Bruno Eymard
Publikováno v: The American Journal of Human Genetics. (4):967-975
SummaryCongenital myasthenic syndrome (CMS) with end-plate acetylcholinesterase (AChE) deficiency is a rare autosomal recessive disease, recently classified as CMS type Ic (CMS-Ic). It is characterized by onset in childhood, generalized weakness incr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4ccb4979a05e5252451ebe6f55c6430
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