Search filters

List of works by Francesco Cucca

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia

scientific article published on 20 November 2020

A comparison of Y-chromosome variation in Sardinia and Anatolia is more consistent with cultural rather than demic diffusion of agriculture

scientific article

A gene dosage effect of the DQA1*0501/DQB1*0201 allelic combination influences the clinical heterogeneity of celiac disease

scientific article published on 01 June 1994

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

scientific article

A genome-wide association study by ImmunoChip reveals potential modifiers in myelodysplastic syndromes

scholarly article by Fabrice Danjou published in November 2016

A genome-wide association study of depressive symptoms

scientific journal article

A high frequency of the A30, B18, DR3, DRw52, DQw2 extended haplotype in Sardinian celiac disease patients: further evidence that disease susceptibility is conferred by DQ A1*0501, B1*0201

scientific article published on 01 February 1992

A likelihood-based framework for variant calling and de novo mutation detection in families

scientific article

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

scientific article

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

scientific article

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

scientific article published on 13 October 2016

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

scientific article

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A search for type 1 diabetes susceptibility genes in families from the United Kingdom

article

A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.

scientific article published on 6 January 2012

Adipocytokine correlations with thyroid function and autoimmunity in euthyroid sardinians

scientific article published on 30 August 2018

Arterial stiffness and influences of the metabolic syndrome: a cross-countries study

scientific article

Arterial stiffness and multiple organ damage: a longitudinal study in population

scientific article published on 13 July 2019

Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

scientific article published on 14 July 2015

Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease

scientific article (publication date: 29 May 2003)

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

scientific article published on 14 January 2019

Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

scientific article published on 18 September 2020

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant

scientific article

CD8+HLADR+ Regulatory T Cells Change With Aging: They Increase in Number, but Lose Checkpoint Inhibitory Molecules and Suppressive Function.

scientific article published on 4 June 2018

Characteristics of healthy vascular ageing in pooled population-based cohort studies: the global Metabolic syndrome and Artery REsearch Consortium.

scientific article published in December 2018

Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia

scientific article published on 01 June 1993

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

scientific article published on 14 September 2020

Conditional ETDT analysis of the human leukocyte antigen region in type 1 diabetes

scientific article published on 01 May 2000

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

scientific article published on 08 February 2019

Cooperative translational control of polymorphic BAFF by NF90 and miR-15a

scientific article published on 01 December 2018

Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

scientific article published on 29 September 2015

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 23 August 2017

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

scientific article published on November 2016

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

scientific article published on 17 December 2015

Crown-rump length: are they different or similar after homologous vs heterologous oocyte/embryo donation?

scientific article published on 20 May 2017

Decline of lactase activity and c/t-13910 variant in Sardinian childhood.

scientific article published in October 2007

Deferoxamine-induced growth retardation in patients with thalassemia major

scientific article published on 01 October 1988

Depressive symptoms, thyroid hormone and autoimmunity in a population-based cohort from Sardinia

scientific article

Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample

scientific article published on 30 April 2015

Different HLA DR2-DQw1 haplotypes in Sardinian and northern Italian populations: implications for multiple sclerosis susceptibility

scientific article published on 01 July 1991

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking

scientific article

Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals

scientific article published on 01 June 2019

Erratum: Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

article

Erratum: Whole-genome sequence-based analysis of thyroid function

scientific article published on 20 May 2015

Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region

scientific article published on 01 January 1998

Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11

article

Exome chip meta-analysis fine maps causal variants and elucidates the genetic architecture of rare coding variants in smoking and alcohol use

scientific article published on 06 December 2018

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses

scientific article published on 28 March 2019

Exome-wide association study of plasma lipids in >300,000 individuals

scientific article published on 30 October 2017

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability

scientific article

Further evidence of a primary, causal association of the PTPN22 620W variant with type 1 diabetes.

scientific article published on 12 October 2007

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

scientific article published on 21 June 2013

Gender specific profiles of white coat and masked hypertension impacts on arterial structure and function in the SardiNIA study

scientific article published on 03 May 2016

Genetic analysis of chromosome 2 in type 1 diabetes: analysis of putative loci IDDM7, IDDM12, and IDDM13 and candidate genes NRAMP1 and IA-2 and the interleukin-1 gene cluster. IMDIAB Group

article

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia

scientific article

Genetic testing improves the diagnosis of adult type hypolactasia in the Mediterranean population of Sardinia.

scientific article published on 21 February 2007

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

scientific article published on 18 April 2016

Genetic variants regulating immune cell levels in health and disease.

scientific article published on September 2013

Genetic-Driven Druggable Target Identification and Validation

article published in 2018

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

scientific article published in November 2018

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

scientific article

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

scientific article published in Nature Communications

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

scientific article

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

scientific article published in February 2013

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

Genome-wide association study identifies 74 loci associated with educational attainment

scientific article published on 11 May 2016

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

scientific article published on 16 October 2011

Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1

scientific article (publication date: 2012)

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

scientific article

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 27 April 2017

Genome-wide search for genes affecting the age at diagnosis of type 1 diabetes

scientific article published on 11 November 2020

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

Genomic history of the Sardinian population

scientific article published on 17 September 2018

Geographic population structure analysis of worldwide human populations infers their biogeographical origins

scientific article

HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease

scientific article

Height-reducing variants and selection for short stature in Sardinia

scientific article

Heterogeneity in the Magnitude of the Insulin Gene Effect on HLA Risk in Type 1 Diabetes

article

High frequency of the TCRBV20S1 null allele in the Sardinian population.

scientific article published on 15 February 2007

ICAM-1 gene is not associated with multiple sclerosis in sardinian patients

article

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

scientific article published on 12 September 2017

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

scientific article

Induction of therapeutic levels of HbF in genome-edited primary β0 39-thalassaemia haematopoietic stem and progenitor cells

scientific article published on 20 November 2020

Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele

article

Insulin-dependent diabetes mellitus and the major histocompatibility complex peptide transporters TAP1 and TAP2: no association in a population with a high disease incidence

scientific article published on 01 October 1994

Investigation of linkage of chromosome 8 to type 1 diabetes: multipoint analysis and exclusion mapping of human chromosome 8 in 593 affected sib-pair families from the U.K. and U.S.

scientific article published on 01 September 1998

Kidney size in relation to ageing, gender, renal function, birthweight and chronic kidney disease risk factors in a general population

scientific article published on 01 April 2020

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

scientific article

Linkage of chromosome 6 and type 1 diabetes

scientific article published on 01 January 1996

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny

scientific article

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

scientific article

Menopause modulates the association between thyrotropin levels and lipid parameters: The SardiNIA study

scientific article

Meta-analysis of genome-wide association studies identifies common variants in CTNNA2 associated with excitement-seeking.

scientific article

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

scientific article published on 07 January 2019

Metabolic syndrome across Europe: different clusters of risk factors.

scientific article

Methods for association analysis and meta-analysis of rare variants in families

scientific article published on 4 March 2015

Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past

scientific article

Molecular Characterization of β-Thalassemia Mutations in Central Vietnam

scientific article

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

scientific article published on 21 May 2020

Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease

scientific article (publication date: 17 September 2013)

NF90 regulation of immune factor expression in response to malaria antigens

scientific article published on 08 March 2019

NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality

scientific article published on 30 March 2017

New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011

Next-generation genotype imputation service and methods

scientific article published on 29 August 2016

No association between variation of the FOXP3 gene and common type 1 diabetes in the Sardinian population

scientific article published in July 2004

No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects

scientific article

No evidence forSEL1L as a candidate gene forIDDM11-conferred susceptibility

article

No evidence of association between subclinical thyroid disorders and common carotid intima medial thickness or atherosclerotic plaque

scientific article

No influence of chromosome Y haplogroup variation in acute graft-versus-host disease in sardinia.

scientific article published in December 2006

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

article

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

scientific article

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

scientific article

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

scientific article published on 17 June 2016

Number of autoantibodies and HLA genotype, more than high titers of glutamic acid decarboxylase autoantibodies, predict insulin dependence in latent autoimmune diabetes of adults.

scientific article published on 5 July 2010

Overexpression of the Cytokine BAFF and Autoimmunity Risk

scientific article

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

scientific article published in Nature Communications

Parameters for reliable results in genetic association studies in common disease

article

Personality traits and circadian blood pressure patterns: a 7-year prospective study

scientific article

Population genomic analysis of ancient and modern genomes yields new insights into the genetic ancestry of the Tyrolean Iceman and the genetic structure of Europe

scientific article (publication date: May 2014)

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

scientific article published on 04 September 2019

Population- and individual-specific regulatory variation in Sardinia.

scientific article published on 10 April 2017

Potential and active functions in the gut microbiota of a healthy human cohort

scientific article

Prevalence of unknown thyroid disorders in a Sardinian cohort

scientific article published in July 2014

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

scientific article

Rare coding variants and X-linked loci associated with age at menarche

scientific article

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

scientific article published on 8 October 2014

Relative impact of indels versus SNPs on complex disease

scientific article published on 22 November 2018

Role of Adipokines in the Association between Thyroid Hormone and Components of the Metabolic Syndrome

scientific article published on 30 May 2019

Role of PTPN22 in type 1 diabetes and other autoimmune diseases

scientific article (publication date: August 2006)

SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits ⬇️

scientific article published on 24 October 2012

Saturation multipoint linkage mapping of chromosome 6q in type 1 diabetes

scientific article published on 01 July 1996

Serum free thyroxine levels are positively associated with arterial stiffness in the SardiNIA study

scientific article

Seventy-five genetic loci influencing the human red blood cell

scientific article published on 5 December 2012

Sex-Specific Parental Effects on Offspring Lipid Levels

scientific article

Sex-related bias and exclusion mapping of the nonrecombinant portion of chromosome Y in human type 1 diabetes in the isolated founder population of Sardinia.

scientific article published in December 2002

Shared genetic data and the rights of involved people

scientific article

Somatic, positive and negative domains of the Center for Epidemiological Studies Depression (CES-D) scale: a meta-analysis of genome-wide association studies

scientific article

Suggestive Evidence for Association of Human Chromosome 18q12-q21 and Its Orthologue on Rat and Mouse Chromosome 18 With Several Autoimmune Diseases

article

T-cell receptor repertoire analysis in monozygotic twins concordant and discordant for type 1 diabetes

scientific article published on 4 January 2012

TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population

scientific article published on 17 September 2011

Testing the possible negative association of type 1 diabetes and atopic disease by analysis of the interleukin 4 receptor gene.

scientific article published in October 2003

The Changing Landscape of Naive T Cell Receptor Repertoire With Human Aging

scientific article published on 24 July 2018

The GenoChip: a new tool for genetic anthropology

scientific article

The HLA DQB1*0502 allele is neutrally associated with insulin-dependent diabetes mellitus in the Sardinian population

scientific article published on 01 May 1992

The HLA-DPB1--associated component of the IDDM1 and its relationship to the major loci HLA-DQB1, -DQA1, and -DRB1

scientific article published on 01 May 2001

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The burden of multiple sclerosis variants in continental Italians and Sardinians

scientific article published on October 2015

The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone

scientific article published on 7 October 2004

The distribution of DQ genes in the Saharawi population provides only a partial explanation for the high celiac disease prevalence.

scientific article

The distribution of DR4 haplotypes in Sardinia suggests a primary association of type I diabetes with DRB1 and DQB1 loci

scientific article published on 01 August 1995

The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations.

scientific article

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

scientific article published on 30 March 2020

The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes

scientific article published in July 2000

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

scientific article

The molecular genetic architecture of self-employment

scientific article

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals

scientific article published on 21 December 2018

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article

Variation of the myelin oligodendrocyte glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population

scientific article

Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia.

scientific article

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

scientific article published on 23 May 2017

Whole-genome sequence-based analysis of thyroid function.

scientific article

Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans

scientific article

Zonulin upregulation is associated with increased gut permeability in subjects with type 1 diabetes and their relatives.

scientific article

Paulina is supported by:

About Paulina

Help