List of works - Roberto Ravazzolo

A minimal isoform of the TMEM16A protein associated with chloride channel activity.

scientific article published on 30 May 2011

A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

scientific article published on 14 May 2009

A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2

article by Cristiana Lo Nigro et al published October 2000 in European Journal of Human Genetics

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

article

A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity.

scientific article published on 6 March 2006

A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation

scientific article

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant

scientific article

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

scientific journal article

Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.

scientific article

An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene

scientific article

Antihypertensive 1,4-dihydropyridines as correctors of the cystic fibrosis transmembrane conductance regulator channel gating defect caused by cystic fibrosis mutations.

scientific article published on 8 September 2005

Assessment of copy number variations in 120 patients with Poland syndrome.

scientific article

Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia.

scientific article

Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS).

scientific article published on 31 October 2012

C-type natriuretic peptide and overgrowth

scientific article published on 27 February 2009

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome

scientific article

Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva

scientific article

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

scientific article

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

scientific article

Double mechanism for apical tryptophan depletion in polarized human bronchial epithelium

scientific article

Effect of inflammatory stimuli on airway ion transport.

scientific article

Epithelial sodium channel inhibition in primary human bronchial epithelia by transfected siRNA.

scientific article published on 21 August 2008

Epithelial sodium channel silencing as a strategy to correct the airway surface fluid deficit in cystic fibrosis

scientific article published in September 2013

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

scientific article

Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis.

scientific article

Expression variability and function of the RET gene in adult peripheral blood mononuclear cells

scientific article published on December 2014

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds

scientific article

Fontaine-farriaux craniosynostosis: Second report in the literature

Functional analysis of acid-activated Cl⁻ channels: properties and mechanisms of regulation.

scientific article published on January 2015

GABP complex regulates transcription of eIF6 (p27BBP), an essential trans-acting factor in ribosome biogenesis

scientific article published on 06 March 2006

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

scientific article (publication date: September 2002)

Genetic Inhibition Of The Ubiquitin Ligase Rnf5 Attenuates Phenotypes Associated To F508del Cystic Fibrosis Mutation.

scientific article published on 17 July 2015

Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.

scientific article published in March 2003

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

article

Genomic approaches in genetic research for endocrine diseases

scientific article published on January 2007

Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release

scientific article published on 27 October 2016

HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders

scientific article published on 01 July 2002

High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva

scientific article published on 28 April 2016

High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel.

scientific article published on 20 November 2017

IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitro

scientific article published on 01 January 2002

IL12RB2 Polymorphisms correlate with risk of lung adenocarcinoma.

scientific article published on 29 October 2015

Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva.

scientific article

Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells

scientific article published on 13 April 2015

Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation.

scientific article published on 7 March 2019

Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot

scientific article published on 26 September 2014

Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.

scientific article

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin

scientific article published in April 2004

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.

scientific article

Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.

scientific article published on 24 June 2015

Is there a biological basis for treatment of fibrodysplasia ossificans progressiva with rosiglitazone? Potential benefits and undesired effects.

scientific article

Label-free, atomic force microscopy-based mapping of DNA intrinsic curvature for the nanoscale comparative analysis of bent duplexes

scientific article

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

scientific article published on 26 January 2007

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

scientific article published on March 2005

MYH9-Related Disease

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

scientific article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

scientific article published on January 2002

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

scientific article

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

scientific article

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

scientific article

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications

scientific article published in March 2006

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

scientific article published on 17 September 2015

Non-canonical translation start sites in the TMEM16A chloride channel

scientific article published on 28 August 2013

Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease.

scientific article

Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia

scientific article

Peripheral blood mononuclear cell immunophenotyping in fibrodysplasia ossificans progressiva patients: Evidence for monocyte DNAM1 up-regulation.

scientific article published on 6 October 2017

Pharmacological Inhibition of the Ubiquitin Ligase RNF5 Rescues F508del-CFTR in Cystic Fibrosis Airway Epithelia

scientific article published on 10 May 2018

Polymorphisms in the osteopontin promoter affect its transcriptional activity.

scientific article

Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings

scientific article published on 3 July 2008

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability

scientific article published in March 2003

Proteomic analysis of the airway surface liquid: modulation by proinflammatory cytokines

article

Regulation of TMEM16A chloride channel properties by alternative splicing

scientific article

Symmetric curvature descriptors for label-free analysis of DNA.

scientific article published on 24 September 2014

TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity

scientific article

TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels.

scientific article published in June 2013

Teaching molecular genetics: chapter 4-positional cloning of genetic disorders

scientific article

The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva

scientific article published on 26 March 2018

The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells

scientific article

The first intron of the human osteopontin gene contains a C/EBP-beta-responsive enhancer

scientific article published on January 2003

The role of the 3'UTR region in the regulation of the ACVR1/Alk-2 gene expression

scientific article

Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels

scientific article

Thymosin α-1 does not correct F508del-CFTR in cystic fibrosis airway epithelia

scientific article published on 04 April 2019

Thymosin α-1 does not correct F508del-CFTR in cystic fibrosis airway epithelia.

scientific article published on 8 February 2018

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines

scientific article

Upregulation of TMEM16A Protein in Bronchial Epithelial Cells by Bacterial Pyocyanin

scientific article published on 29 June 2015

List of works by Roberto Ravazzolo

A minimal isoform of the TMEM16A protein associated with chloride channel activity.

A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity.

A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.

An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene

Antihypertensive 1,4-dihydropyridines as correctors of the cystic fibrosis transmembrane conductance regulator channel gating defect caused by cystic fibrosis mutations.

Assessment of copy number variations in 120 patients with Poland syndrome.

Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia.

Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS).

C-type natriuretic peptide and overgrowth

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome

Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

Double mechanism for apical tryptophan depletion in polarized human bronchial epithelium

Effect of inflammatory stimuli on airway ion transport.

Epithelial sodium channel inhibition in primary human bronchial epithelia by transfected siRNA.

Epithelial sodium channel silencing as a strategy to correct the airway surface fluid deficit in cystic fibrosis

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis.

Expression variability and function of the RET gene in adult peripheral blood mononuclear cells

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds

Fontaine-farriaux craniosynostosis: Second report in the literature

Functional analysis of acid-activated Cl⁻ channels: properties and mechanisms of regulation.

GABP complex regulates transcription of eIF6 (p27BBP), an essential trans-acting factor in ribosome biogenesis

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

Genetic Inhibition Of The Ubiquitin Ligase Rnf5 Attenuates Phenotypes Associated To F508del Cystic Fibrosis Mutation.

Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

Genomic approaches in genetic research for endocrine diseases

Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release

HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders

High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva

High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel.

IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitro

IL12RB2 Polymorphisms correlate with risk of lung adenocarcinoma.

Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva.

Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells

Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation.

Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot

Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.

Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.

Is there a biological basis for treatment of fibrodysplasia ossificans progressiva with rosiglitazone? Potential benefits and undesired effects.

Label-free, atomic force microscopy-based mapping of DNA intrinsic curvature for the nanoscale comparative analysis of bent duplexes

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

MYH9-Related Disease

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

Non-canonical translation start sites in the TMEM16A chloride channel

Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease.

Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia

Peripheral blood mononuclear cell immunophenotyping in fibrodysplasia ossificans progressiva patients: Evidence for monocyte DNAM1 up-regulation.

Pharmacological Inhibition of the Ubiquitin Ligase RNF5 Rescues F508del-CFTR in Cystic Fibrosis Airway Epithelia

Polymorphisms in the osteopontin promoter affect its transcriptional activity.

Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability

Proteomic analysis of the airway surface liquid: modulation by proinflammatory cytokines

Regulation of TMEM16A chloride channel properties by alternative splicing

Symmetric curvature descriptors for label-free analysis of DNA.

TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity

TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels.

Teaching molecular genetics: chapter 4-positional cloning of genetic disorders

The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva

The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells

The first intron of the human osteopontin gene contains a C/EBP-beta-responsive enhancer