Manon Baudic
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View article: Structural perturbation of chromatin domains with multiple developmental regulators can severely impact gene regulation and development
Structural perturbation of chromatin domains with multiple developmental regulators can severely impact gene regulation and development Open
Chromatin domain boundaries delimited by CTCF motifs can restrict the range of enhancer action. However, disruption of domain structure often results in mild gene dysregulation and thus predicting the impact of boundary rearrangements on a…
View article: TAD boundary deletion causes PITX2-related cardiac electrical and structural defects
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects Open
View article: Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line Open
Mutations in the DES gene, which encodes the intermediate filament desmin, lead to desminopathy, a rare disease characterized by skeletal muscle weakness and different forms of cardiomyopathies associated with cardiac conduction defects an…
View article: Modeling familial sinus node dysfunction with a large intergenic deletion between PITX2 and ANK2 using iPS cell-derived sinoatrial nodal-like cardiomyocytes
Modeling familial sinus node dysfunction with a large intergenic deletion between PITX2 and ANK2 using iPS cell-derived sinoatrial nodal-like cardiomyocytes Open
Background Pituitary homeobox 2 (PITX2) encoded by PITX2, is one of the transcription factors and plays an important role in establishing the left-right axis during development. In the heart, PITX2 inhibits the development of the sinoatria…
View article: Functional Epicardial Conduction Disturbances Due to a SCN5A Variant Associated With Brugada Syndrome
Functional Epicardial Conduction Disturbances Due to a SCN5A Variant Associated With Brugada Syndrome Open
View article: Syndromic cardiac disorder is associated with a non-coding deletion that induces a 3D chromatin remodeling and PITX2 expression dysregulation
Syndromic cardiac disorder is associated with a non-coding deletion that induces a 3D chromatin remodeling and PITX2 expression dysregulation Open
In a first family (family#1), we identified 53 members of whom 17 present a syndromic cardiac disorder characterized by electrical disorders (sinus node dysfunction, atrial fibrillation...) and developmental defects (atrial septal defect, …
View article: FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells
FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells Open
View article: Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-A rat model
Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-A rat model Open
Aims Degenerative mitral valve dystrophy (MVD) leading to mitral valve prolapse is the most frequent form of MV disease, and there is currently no pharmacological treatment available. The limited understanding of the pathophysiological mec…
View article: Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility Open
View article: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility Open
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we …