List of works - Matteo Bovolenta

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

scientific article

An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes

scientific article published on 24 June 2016

An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosis

scientific article published on 06 November 2014

Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy

scientific article published in September 2010

Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy

scientific article published on 6 November 2012

Autosomal recessive Bethlem myopathy

scientific article

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse

scientific article

Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System.

scientific article published on 10 February 2017

Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

article

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis

scientific article

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

scientific article published on 4 March 2016

Exon skipping-mediated dystrophin reading frame restoration for small mutations

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy

scientific article

Fo ATP synthase C subunit serum levels in patients with ST-segment Elevation Myocardial Infarction: Preliminary findings

scientific article published on 9 July 2016

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

scientific article

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy

scientific article published in May 2009

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

scientific article

Macrophages: a minimally invasive tool for monitoring collagen VI myopathies

scientific article published on 12 April 2011

PLC-beta2 monitors the drug-induced release of differentiation blockade in tumoral myeloid precursors.

scientific article published on May 2006

Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization.

scientific article

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array

scientific article published on 25 January 2012

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.

scientific article

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

scientific article

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

scientific article published on 31 August 2017

Transcriptional behavior of DMD gene duplications in DMD/BMD males

scientific article published on February 2009

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

scientific article

List of works by Matteo Bovolenta

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes

An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosis

Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy

Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy

Autosomal recessive Bethlem myopathy

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse

Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System.

Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Exon skipping-mediated dystrophin reading frame restoration for small mutations

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy

Fo ATP synthase C subunit serum levels in patients with ST-segment Elevation Myocardial Infarction: Preliminary findings

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

Macrophages: a minimally invasive tool for monitoring collagen VI myopathies

PLC-beta2 monitors the drug-induced release of differentiation blockade in tumoral myeloid precursors.

Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization.

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Transcriptional behavior of DMD gene duplications in DMD/BMD males

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice