List of works - Giuseppe Novelli

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

scientific article

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

scientific article

MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1.

scientific article published on 28 September 2009

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

scientific article

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

scientific journal article

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

scientific article

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

scientific article

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.

scientific article published on 20 April 2005

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

scientific article

Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment

scientific article published on November 2005

Isolation of CF cell lines corrected at DeltaF508-CFTR locus by SFHR-mediated targeting

scientific article

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

scientific article

Primary laminopathy fibroblasts display altered genome organization and apoptosis.

scientific article published on 5 February 2007

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences

scientific article published in May 1991

Searching for Psoriasis Susceptibility Genes in Italy: Genome Scan and Evidence for a New Locus on Chromosome 1

article

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

scientific article published on 26 July 2005

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

scientific article

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

scientific article

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2.

scientific article published on 11 March 2010

Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria.

scientific article published on 19 October 2011

In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction

scientific article published on 23 June 2005

Atypical progeroid syndrome due to heterozygous missense LMNA mutations

scientific article published on 29 October 2009

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

scientific article

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

scientific article published on 30 May 2008

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

scientific article (publication date: October 2002)

Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy

scientific article published on January 1995

Oxidized LDL receptor 1 (OLR1) as a possible link between obesity, dyslipidemia and cancer

scientific article

Fine Mapping of the PSORS4 Psoriasis Susceptibility Region on Chromosome 1q21

scientific article published on 01 May 2001

Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells

scientific article published on 30 April 2010

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene

scientific article

Expression of DeltaF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR.

scientific article

Nevirapine-induced hepatotoxicity and pharmacogenetics: a retrospective study in a population from Mozambique

scientific article published in January 2010

Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes

article

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

scientific article

Allelic variants in the CYP2C9 and VKORC1 loci and interindividual variability in the anticoagulant dose effect of warfarin in Italians.

scientific article published in November 2007

The splice variant LOXIN inhibits LOX-1 receptor function through hetero-oligomerization

scientific article

Molecular basis of disorders of human galactose metabolism: past, present, and future.

scientific article

Low doses of dexamethasone constantly delivered by autologous erythrocytes slow the progression of lung disease in cystic fibrosis patients

scientific article published on 01 July 2004

"The Linosa Study": epidemiological and heritability data of the metabolic syndrome in a Caucasian genetic isolate

scientific article

Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21.

scientific article published on December 1999

Awake thoracoscopic biopsy of interstitial lung disease

scientific article

TRAF3IP2 gene and systemic lupus erythematosus: association with disease susceptibility and pericarditis development

scientific article published on 9 July 2013

MicroRNA genetic variations: association with type 2 diabetes

scientific article published on 27 March 2013

Lamin A precursor induces barrier-to-autointegration factor nuclear localization

scientific article published in July 2010

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

scientific article

Biomarkers in COPD.

scientific article published on 13 May 2010

TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy

article

Targeted correction of a defective selectable marker gene in human epithelial cells by small DNA fragments

scientific article published on February 2001

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

article by Valerio Pisani et al published 24 September 2008 in Muscle and Nerve

Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia

scientific article published in January 1998

List of works by Giuseppe Novelli

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1.

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment

Isolation of CF cell lines corrected at DeltaF508-CFTR locus by SFHR-mediated targeting

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

Primary laminopathy fibroblasts display altered genome organization and apoptosis.

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences

Searching for Psoriasis Susceptibility Genes in Italy: Genome Scan and Evidence for a New Locus on Chromosome 1

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2.

Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria.

In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction

Atypical progeroid syndrome due to heterozygous missense LMNA mutations

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy

Oxidized LDL receptor 1 (OLR1) as a possible link between obesity, dyslipidemia and cancer

Fine Mapping of the PSORS4 Psoriasis Susceptibility Region on Chromosome 1q21

Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene

Expression of DeltaF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR.

Nevirapine-induced hepatotoxicity and pharmacogenetics: a retrospective study in a population from Mozambique

Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

Allelic variants in the CYP2C9 and VKORC1 loci and interindividual variability in the anticoagulant dose effect of warfarin in Italians.

The splice variant LOXIN inhibits LOX-1 receptor function through hetero-oligomerization

Molecular basis of disorders of human galactose metabolism: past, present, and future.

Low doses of dexamethasone constantly delivered by autologous erythrocytes slow the progression of lung disease in cystic fibrosis patients

"The Linosa Study": epidemiological and heritability data of the metabolic syndrome in a Caucasian genetic isolate

Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21.

Awake thoracoscopic biopsy of interstitial lung disease

TRAF3IP2 gene and systemic lupus erythematosus: association with disease susceptibility and pericarditis development

MicroRNA genetic variations: association with type 2 diabetes

Lamin A precursor induces barrier-to-autointegration factor nuclear localization

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

Biomarkers in COPD.

TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy

Targeted correction of a defective selectable marker gene in human epithelial cells by small DNA fragments

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia