Thomas Simonet
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View article: Mobile Element Insertion in the <i>APOB</i> Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis
Mobile Element Insertion in the <i>APOB</i> Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis Open
Mobile elements (ME) can transpose by copy‐and‐paste mechanisms. A heterozygous insertion in APOB exon 3 coding sequence was suspected in a patient with hypobetalipoproteinemia (HBL), by gel electrophoresis of the PCR products. An insertio…
View article: H2A.Z is involved in premature aging and DSB repair initiation in muscle fibers
H2A.Z is involved in premature aging and DSB repair initiation in muscle fibers Open
Histone variants are key epigenetic players, but their functional and physiological roles remain poorly understood. Here, we show that depletion of the histone variant H2A.Z in mouse skeletal muscle causes oxidative stress, oxidation of pr…
View article: LSD1 controls a nuclear checkpoint in Wnt/β-Catenin signaling to regulate muscle stem cell self-renewal
LSD1 controls a nuclear checkpoint in Wnt/β-Catenin signaling to regulate muscle stem cell self-renewal Open
The Wnt/β-Catenin pathway plays a key role in cell fate determination during development and in adult tissue regeneration by stem cells. These processes involve profound gene expression and epigenome remodeling and linking Wnt/β-Catenin si…
View article: Spatial Transcriptomics Reveals Signatures of Histopathological Changes in Muscular Sarcoidosis
Spatial Transcriptomics Reveals Signatures of Histopathological Changes in Muscular Sarcoidosis Open
Sarcoidosis is a multisystemic disease characterized by non-caseating granuloma infiltrating various organs. The form with symptomatic muscular involvement is called muscular sarcoidosis. The impact of immune cells composing the granuloma …
View article: Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus
Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus Open
Promyelocytic leukemia Nuclear Bodies (PML NBs) are nuclear membrane-less organelles physically associated with chromatin underscoring their crucial role in genome function. The H3.3 histone chaperone complex HIRA accumulates in PML NBs up…
View article: Author response: Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus
Author response: Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus Open
Full text Figures and data Side by side Abstract Editor's evaluation Introduction Results Discussion Methods Appendix 1 Data availability References Decision letter Author response Article and author information Metrics Abstract Promyelocy…
View article: Homozygous <i>COQ7</i> mutation: a new cause of potentially treatable distal hereditary motor neuropathy
Homozygous <i>COQ7</i> mutation: a new cause of potentially treatable distal hereditary motor neuropathy Open
Distal hereditary motor neuropathy represents a group of motor inherited neuropathies leading to distal weakness. We report a family of two brothers and a sister affected by distal hereditary motor neuropathy in whom a homozygous variant c…
View article: Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons Open
Congenital myasthenic syndromes (CMS) are predominantly characterized by muscle weakness and fatigability and can be caused by a variety of mutations in genes required for neuromuscular junction formation and maintenance. Among them, AGRN …
View article: LSD1 controls a nuclear checkpoint in Wnt/β-Catenin signaling to regulate muscle stem cell self-renewal
LSD1 controls a nuclear checkpoint in Wnt/β-Catenin signaling to regulate muscle stem cell self-renewal Open
The Wnt/β-Catenin pathway plays a key role in cell fate determination during development and in adult tissue regeneration by stem cells. These processes involve profound gene expression and epigenome remodeling and linking Wnt/β-Catenin si…
View article: Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus
Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus Open
Promyelocytic Leukemia Nuclear Bodies (PML NBs) are nuclear membrane-less organelles physically associated with chromatin underscoring their crucial role in genome function. The H3.3 histone chaperone complex HIRA accumulates in PML NBs up…
View article: Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies
Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies Open
RNA sequencing holds great promise to improve the diagnostic of hematological malignancies, because this technique enables to detect fusion transcripts, to look for somatic mutations in oncogenes, and to capture transcriptomic signatures o…
View article: Performances of targeted RNA-sequencing for the analysis of fusion transcripts, gene mutation and expression in haematological malignancies
Performances of targeted RNA-sequencing for the analysis of fusion transcripts, gene mutation and expression in haematological malignancies Open
RNA sequencing holds great promise to improve the diagnostic of haematological malignancies, because this technique enables to detect fusion transcripts, to look for somatic mutations in oncogenes, and to capture transcriptomic signatures …
View article: Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes Open
View article: H2A.Z is dispensable for both basal and activated transcription in post-mitotic mouse muscles
H2A.Z is dispensable for both basal and activated transcription in post-mitotic mouse muscles Open
While the histone variant H2A.Z is known to be required for mitosis, it is also enriched in nucleosomes surrounding the transcription start site of active promoters, implicating H2A.Z in transcription. However, evidence obtained so far mai…
View article: Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts Open
View article: H2A.Z is dispensable for both basal and activated transcription in post-mitotic mouse muscles
H2A.Z is dispensable for both basal and activated transcription in post-mitotic mouse muscles Open
The histone variant H2A.Z is enriched in nucleosomes surrounding the transcription start site of active promoters, suggesting that it might be implicated in transcription. It is also required during mitosis. However, evidences obtained so …
View article: How to detect mobile retrocopies during routine genetic testing and manage pitfalls
How to detect mobile retrocopies during routine genetic testing and manage pitfalls Open
View article: Validation of the prognostic value of the knowledge bank approach to determine AML prognosis in real life
Validation of the prognostic value of the knowledge bank approach to determine AML prognosis in real life Open
View article: The epilepsy phenotypic spectrum associated with a recurrent <i>CUX2</i> variant
The epilepsy phenotypic spectrum associated with a recurrent <i>CUX2</i> variant Open
Objective Cut homeodomain transcription factor CUX2 plays an important role in dendrite branching, spine development, and synapse formation in layer II to III neurons of the cerebral cortex. We identify a recurrent de novo CUX2 p.Glu590Lys…
View article: De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Open
View article: LSD1 Controls Timely MyoD Expression via MyoD Core Enhancer Transcription
LSD1 Controls Timely MyoD Expression via MyoD Core Enhancer Transcription Open
View article: Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA Open