The Experts below are selected from a list of 31485 Experts worldwide ranked by ideXlab platform
Christelle Thibault - One of the best experts on this subject based on the ideXlab platform.
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and Heart Arrhythmia in myotonic dystrophy
Nature Communications, 2016Co-Authors: Fernande Freyermuth, Yoshihiro Kino, Chantal Sellier, Masayuki Nakamori, Ludovic Arandel, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Arnaud Jollet, Christelle ThibaultAbstract:Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and Arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM Heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A. We find that MBNL1 regulates alternative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a reduced excitability compared with the control adult isoform. Importantly, reproducing splicing alteration of Scn5a in mice is sufficient to promote Heart Arrhythmia and cardiac-conduction delay, two predominant features of myotonic dystrophy. In conclusion, misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy.
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and Heart Arrhythmia in myotonic dystrophy
Nature Communications, 2016Co-Authors: Fernande Freyermuth, Yoshihiro Kino, Chantal Sellier, Masayuki Nakamori, Ludovic Arandel, Yosuke Kokunai, Thomas Linke, Arnaud Jollet, Christelle Thibault, Muriel PhilippsAbstract:Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al . show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternative splicing of the cardiac Na^+ channel SCN5A transcript, resulting in expression of its fetal form. Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and Arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM Heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A . We find that MBNL1 regulates alternative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a reduced excitability compared with the control adult isoform. Importantly, reproducing splicing alteration of Scn5a in mice is sufficient to promote Heart Arrhythmia and cardiac-conduction delay, two predominant features of myotonic dystrophy. In conclusion, misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy.
Fernande Freyermuth - One of the best experts on this subject based on the ideXlab platform.
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and Heart Arrhythmia in myotonic dystrophy
Nature Communications, 2016Co-Authors: Fernande Freyermuth, Yoshihiro Kino, Chantal Sellier, Masayuki Nakamori, Ludovic Arandel, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Arnaud Jollet, Christelle ThibaultAbstract:Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and Arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM Heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A. We find that MBNL1 regulates alternative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a reduced excitability compared with the control adult isoform. Importantly, reproducing splicing alteration of Scn5a in mice is sufficient to promote Heart Arrhythmia and cardiac-conduction delay, two predominant features of myotonic dystrophy. In conclusion, misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy.
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and Heart Arrhythmia in myotonic dystrophy
Nature Communications, 2016Co-Authors: Fernande Freyermuth, Yoshihiro Kino, Chantal Sellier, Masayuki Nakamori, Ludovic Arandel, Yosuke Kokunai, Thomas Linke, Arnaud Jollet, Christelle Thibault, Muriel PhilippsAbstract:Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al . show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternative splicing of the cardiac Na^+ channel SCN5A transcript, resulting in expression of its fetal form. Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and Arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM Heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A . We find that MBNL1 regulates alternative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a reduced excitability compared with the control adult isoform. Importantly, reproducing splicing alteration of Scn5a in mice is sufficient to promote Heart Arrhythmia and cardiac-conduction delay, two predominant features of myotonic dystrophy. In conclusion, misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy.
Muriel Philipps - One of the best experts on this subject based on the ideXlab platform.
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and Heart Arrhythmia in myotonic dystrophy
Nature Communications, 2016Co-Authors: Fernande Freyermuth, Yoshihiro Kino, Chantal Sellier, Masayuki Nakamori, Ludovic Arandel, Yosuke Kokunai, Thomas Linke, Arnaud Jollet, Christelle Thibault, Muriel PhilippsAbstract:Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al . show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternative splicing of the cardiac Na^+ channel SCN5A transcript, resulting in expression of its fetal form. Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and Arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM Heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A . We find that MBNL1 regulates alternative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a reduced excitability compared with the control adult isoform. Importantly, reproducing splicing alteration of Scn5a in mice is sufficient to promote Heart Arrhythmia and cardiac-conduction delay, two predominant features of myotonic dystrophy. In conclusion, misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy.
Chantal Sellier - One of the best experts on this subject based on the ideXlab platform.
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and Heart Arrhythmia in myotonic dystrophy
Nature Communications, 2016Co-Authors: Fernande Freyermuth, Yoshihiro Kino, Chantal Sellier, Masayuki Nakamori, Ludovic Arandel, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Arnaud Jollet, Christelle ThibaultAbstract:Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and Arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM Heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A. We find that MBNL1 regulates alternative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a reduced excitability compared with the control adult isoform. Importantly, reproducing splicing alteration of Scn5a in mice is sufficient to promote Heart Arrhythmia and cardiac-conduction delay, two predominant features of myotonic dystrophy. In conclusion, misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy.
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and Heart Arrhythmia in myotonic dystrophy
Nature Communications, 2016Co-Authors: Fernande Freyermuth, Yoshihiro Kino, Chantal Sellier, Masayuki Nakamori, Ludovic Arandel, Yosuke Kokunai, Thomas Linke, Arnaud Jollet, Christelle Thibault, Muriel PhilippsAbstract:Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al . show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternative splicing of the cardiac Na^+ channel SCN5A transcript, resulting in expression of its fetal form. Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and Arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM Heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A . We find that MBNL1 regulates alternative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a reduced excitability compared with the control adult isoform. Importantly, reproducing splicing alteration of Scn5a in mice is sufficient to promote Heart Arrhythmia and cardiac-conduction delay, two predominant features of myotonic dystrophy. In conclusion, misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy.
Masayuki Nakamori - One of the best experts on this subject based on the ideXlab platform.
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and Heart Arrhythmia in myotonic dystrophy
Nature Communications, 2016Co-Authors: Fernande Freyermuth, Yoshihiro Kino, Chantal Sellier, Masayuki Nakamori, Ludovic Arandel, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Arnaud Jollet, Christelle ThibaultAbstract:Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and Arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM Heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A. We find that MBNL1 regulates alternative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a reduced excitability compared with the control adult isoform. Importantly, reproducing splicing alteration of Scn5a in mice is sufficient to promote Heart Arrhythmia and cardiac-conduction delay, two predominant features of myotonic dystrophy. In conclusion, misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy.
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and Heart Arrhythmia in myotonic dystrophy
Nature Communications, 2016Co-Authors: Fernande Freyermuth, Yoshihiro Kino, Chantal Sellier, Masayuki Nakamori, Ludovic Arandel, Yosuke Kokunai, Thomas Linke, Arnaud Jollet, Christelle Thibault, Muriel PhilippsAbstract:Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al . show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternative splicing of the cardiac Na^+ channel SCN5A transcript, resulting in expression of its fetal form. Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and Arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM Heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A . We find that MBNL1 regulates alternative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a reduced excitability compared with the control adult isoform. Importantly, reproducing splicing alteration of Scn5a in mice is sufficient to promote Heart Arrhythmia and cardiac-conduction delay, two predominant features of myotonic dystrophy. In conclusion, misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy.
