Lista de obras - Genevieve Gourdon - Dominio Público Uruguay

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

article

Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1.

artículo científico publicado en 2014

CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.

artículo científico publicado en 2017

CTG repeat instability and size variation timing in DNA repair-deficient mice ⬇️

artículo científico publicado el 1 de mayo de 2003

Cloning and characterization of the mouse alpha globin cluster and a new hypervariable marker

artículo científico publicado en 1996

Defective satellite cells in congenital myotonic dystrophy

artículo científico publicado en 2001

Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy.

artículo científico publicado en 2017

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues ⬇️

artículo científico publicado el 1 de enero de 2011

Functional and histopathological identification of the respiratory failure in a DMSXL transgenic mouse model of myotonic dystrophy.

artículo científico publicado en 2012

Identification of GATA-1 and NF-E2 Binding Sites in the Flanking Regions of the Human Alpha-Globin Genes ⬇️

artículo científico publicado el 1 de enero de 1992

Integrative Cell Type-Specific Multi-Omics Approaches Reveal Impaired Programs of Glial Cell Differentiation in Mouse Culture Models of DM1

artículo científico publicado en 2021

Intriguing association between disease associated unstable trinucleotide repeat and CpG island

artículo científico publicado el 1 de enero de 1997

Longitudinal in vivo muscle function analysis of the DMSXL mouse model of myotonic dystrophy type 1

artículo científico publicado en 2013

MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice.

artículo científico publicado en 2004

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability.

artículo científico publicado en 2011

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

artículo científico publicado en 2011

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

artículo científico publicado en 1997

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.

artículo científico publicado en 2006

Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy

artículo científico publicado en 2012

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS.

artículo científico publicado en 2017

Myotonic dystrophy mouse models: towards rational therapy development.

artículo científico publicado en 2011

Myotonic dystrophy transgenic mice exhibit pathologic abnormalities in diaphragm neuromuscular junctions and phrenic nerves.

artículo científico publicado en 2008

Myotonic dystrophy type 1-associated CTG repeats disturb the expression and subcellular distribution of microtubule-associated proteins MAP1A, MAP2, and MAP6/STOP in PC12 cells.

artículo científico publicado en 2011

Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges ⬇️

artículo científico publicado el 5 de agosto de 2011

Non-radioactive detection of trinucleotide repeat size variability.

artículo científico publicado en 2014

Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy.

artículo científico publicado en 2018

Peripheral neuropathy is linked to a severe form of myotonic dystrophy in transgenic mice.

artículo científico publicado en 2011

Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin–proteasome pathway

artículo científico publicado en 2010

Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length.

artículo científico publicado en 2013

Role of upstream DNase I hypersensitive sites in the regulation of human alpha globin gene expression

article

Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development

artículo científico publicado en 2015

Stabilization of Expanded (CTG)•(CAG) Repeats by Antisense Oligonucleotides ⬇️

artículo científico publicado el 4 de octubre de 2011

Synaptic protein dysregulation in myotonic dystrophy type 1: Disease neuropathogenesis beyond missplicing

artículo científico publicado en 2013

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

artículo científico publicado en 2017

The expansion of 300 CTG repeats in myotonic dystrophy transgenic mice does not induce sensory or motor neuropathy

artículo científico publicado en 2007

The flash-small-pool PCR: how to transform blotting and numerous hybridization steps into a simple denatured PCR

artículo científico publicado en 2018

The mouse alpha-globin locus regulatory element.

artículo científico publicado en 1995

The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress.

artículo científico publicado en 2011

Time-controlled and muscle-specific CRISPR/Cas9-mediated deletion of CTG-repeat expansion in the <i>DMPK</i> gene

artículo científico publicado en 2021

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.

artículo científico publicado en 2010

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

artículo científico publicado en 2000

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.

artículo científico publicado en 2009

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

artículo científico publicado en 2018

miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

artículo científico publicado en 2021

Lista de obras de Genevieve Gourdon

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1.

CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.

CTG repeat instability and size variation timing in DNA repair-deficient mice ⬇️

Cloning and characterization of the mouse alpha globin cluster and a new hypervariable marker

Defective satellite cells in congenital myotonic dystrophy

Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy.

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues ⬇️

Functional and histopathological identification of the respiratory failure in a DMSXL transgenic mouse model of myotonic dystrophy.

Identification of GATA-1 and NF-E2 Binding Sites in the Flanking Regions of the Human Alpha-Globin Genes ⬇️

Integrative Cell Type-Specific Multi-Omics Approaches Reveal Impaired Programs of Glial Cell Differentiation in Mouse Culture Models of DM1

Intriguing association between disease associated unstable trinucleotide repeat and CpG island

Longitudinal in vivo muscle function analysis of the DMSXL mouse model of myotonic dystrophy type 1

MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice.

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability.

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.

Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS.

Myotonic dystrophy mouse models: towards rational therapy development.

Myotonic dystrophy transgenic mice exhibit pathologic abnormalities in diaphragm neuromuscular junctions and phrenic nerves.

Myotonic dystrophy type 1-associated CTG repeats disturb the expression and subcellular distribution of microtubule-associated proteins MAP1A, MAP2, and MAP6/STOP in PC12 cells.

Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges ⬇️

Non-radioactive detection of trinucleotide repeat size variability.

Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy.

Peripheral neuropathy is linked to a severe form of myotonic dystrophy in transgenic mice.

Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin–proteasome pathway

Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length.

Role of upstream DNase I hypersensitive sites in the regulation of human alpha globin gene expression

Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development

Stabilization of Expanded (CTG)•(CAG) Repeats by Antisense Oligonucleotides ⬇️

Synaptic protein dysregulation in myotonic dystrophy type 1: Disease neuropathogenesis beyond missplicing

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

The expansion of 300 CTG repeats in myotonic dystrophy transgenic mice does not induce sensory or motor neuropathy

The flash-small-pool PCR: how to transform blotting and numerous hybridization steps into a simple denatured PCR

The mouse alpha-globin locus regulatory element.

The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress.

Time-controlled and muscle-specific CRISPR/Cas9-mediated deletion of CTG-repeat expansion in the <i>DMPK</i> gene

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1