The Experts below are selected from a list of 277812 Experts worldwide ranked by ideXlab platform
Celine Bruno - One of the best experts on this subject based on the ideXlab platform.
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germline correction of an epimutation related to silver russell syndrome
Human Molecular Genetics, 2015Co-Authors: Celine Bruno, Irene Netchine, Virginie Carmignac, Cecile Choux, Yannis Duffourd, Yves Le Bouc, Paul Sagot, Christel Thauvinrobinet, Laurence Faivre, Deborah BourchisAbstract:: Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has Important Implication for genetic counseling.
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Germline correction of an epimutation related to Silver–Russell syndrome
Human Molecular Genetics, 2015Co-Authors: Celine Bruno, Irene Netchine, Virginie Carmignac, Cecile Choux, Yannis Duffourd, Christel Thauvin-robinet, Yves Le Bouc, Paul Sagot, Laurence Faivre, Déborah Bourc'hisAbstract:: Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has Important Implication for genetic counseling.
Deborah Bourchis - One of the best experts on this subject based on the ideXlab platform.
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germline correction of an epimutation related to silver russell syndrome
Human Molecular Genetics, 2015Co-Authors: Celine Bruno, Irene Netchine, Virginie Carmignac, Cecile Choux, Yannis Duffourd, Yves Le Bouc, Paul Sagot, Christel Thauvinrobinet, Laurence Faivre, Deborah BourchisAbstract:: Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has Important Implication for genetic counseling.
Déborah Bourc'his - One of the best experts on this subject based on the ideXlab platform.
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Germline correction of an epimutation related to Silver–Russell syndrome
Human Molecular Genetics, 2015Co-Authors: Celine Bruno, Irene Netchine, Virginie Carmignac, Cecile Choux, Yannis Duffourd, Christel Thauvin-robinet, Yves Le Bouc, Paul Sagot, Laurence Faivre, Déborah Bourc'hisAbstract:: Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has Important Implication for genetic counseling.
Paul Sagot - One of the best experts on this subject based on the ideXlab platform.
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germline correction of an epimutation related to silver russell syndrome
Human Molecular Genetics, 2015Co-Authors: Celine Bruno, Irene Netchine, Virginie Carmignac, Cecile Choux, Yannis Duffourd, Yves Le Bouc, Paul Sagot, Christel Thauvinrobinet, Laurence Faivre, Deborah BourchisAbstract:: Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has Important Implication for genetic counseling.
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Germline correction of an epimutation related to Silver–Russell syndrome
Human Molecular Genetics, 2015Co-Authors: Celine Bruno, Irene Netchine, Virginie Carmignac, Cecile Choux, Yannis Duffourd, Christel Thauvin-robinet, Yves Le Bouc, Paul Sagot, Laurence Faivre, Déborah Bourc'hisAbstract:: Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has Important Implication for genetic counseling.
Irene Netchine - One of the best experts on this subject based on the ideXlab platform.
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germline correction of an epimutation related to silver russell syndrome
Human Molecular Genetics, 2015Co-Authors: Celine Bruno, Irene Netchine, Virginie Carmignac, Cecile Choux, Yannis Duffourd, Yves Le Bouc, Paul Sagot, Christel Thauvinrobinet, Laurence Faivre, Deborah BourchisAbstract:: Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has Important Implication for genetic counseling.
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Germline correction of an epimutation related to Silver–Russell syndrome
Human Molecular Genetics, 2015Co-Authors: Celine Bruno, Irene Netchine, Virginie Carmignac, Cecile Choux, Yannis Duffourd, Christel Thauvin-robinet, Yves Le Bouc, Paul Sagot, Laurence Faivre, Déborah Bourc'hisAbstract:: Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has Important Implication for genetic counseling.
