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List of works by Mauro D'Amato

A GWAS meta-analysis from 5 population-based cohorts implicates ion channel genes in the pathogenesis of irritable bowel syndrome

article

A GWAS meta-analysis suggests roles for xenobiotic metabolism and ion channel activity in the biology of stool frequency

scientific article published on 29 July 2016

A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn's Disease and Human Gut Microbiome Composition

scientific article

A genome-wide association scan on estrogen receptor-negative breast cancer

scientific article

A meta-analysis of reflux genome-wide association studies in 6750 Northern Europeans from the general population

scientific article published on 3 August 2016

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 09 August 2016

Analysis of 1135 gut metagenomes identifies sex-specific resistome profiles

scientific article published on 29 October 2018

Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients.

scientific article

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

scientific article

Analysis of neuropeptide S receptor gene (NPSR1) polymorphism in rheumatoid arthritis

scientific article

Are His63Asp or Cys282Tyr HFE Mutations Associated with Porphyria Cutanea Tarda? Data of Patients from Central and Southern Italy

article

Assessment of the neuropeptide S system in anxiety disorders

scientific article published in September 2010

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies

scientific article published on 25 April 2013

Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients

scientific article

Association of persistent bronchial hyperresponsiveness with beta2-adrenoceptor (ADRB2) haplotypes. A population study

scientific article published in December 1998

Association of responsiveness to the major pollen allergen of Parietaria officinalis with HLA-DRB1∗ alleles a multicenter study

Atopic and vernal keratoconjunctivitis: a model for studying atopic disease.

scientific article

C13orf31 (FAMIN) is a central regulator of immunometabolic function

scientific journal article

CARD15/NOD2 polymorphisms do not explain concordance of Crohn's disease in Swedish monozygotic twins

scientific article published in October 2005

CD98 expression modulates intestinal homeostasis, inflammation, and colitis-associated cancer in mice

scientific article

Cornulin, a marker of late epidermal differentiation, is down-regulated in eczema

scientific article published in February 2009

Correction: Longitudinal Multi-omics Reveals Subset-Specific Mechanisms Underlying Irritable Bowel Syndrome

correction of an article published on 01 November 2020

DMBT1 confers mucosal protection in vivo and a deletion variant is associated with Crohn's disease.

scientific article published on 3 August 2007

DNA methylation in the Neuropeptide S Receptor 1 (NPSR1) promoter in relation to asthma and environmental factors

scientific article

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

scientific article

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis

scientific article

Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis.

scientific article published on 2 November 2015

Detection of celiac disease and lymphocytic enteropathy by parallel serology and histopathology in a population-based study.

scientific article

Drug repositioning: a machine-learning approach through data integration

scientific article

Duodenal epithelial transport in functional dyspepsia: Role of serotonin.

scientific article published on May 2013

Dynamics of the human gut microbiome in inflammatory bowel disease.

scientific article published on 13 February 2017

Effect of aspirin on the diagnostic accuracy of the faecal immunochemical test for colorectal advanced neoplasia.

scientific article published on 21 April 2017

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 13 September 2016

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scholarly article published in Nature Genetics

Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scholarly article published in Nature Genetics

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis

scientific article published on 20 February 2014

Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus

scientific article published on 30 June 2009

Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts

scientific article published on 23 September 2014

Expression and distribution of GnRH, LH, and FSH and their receptors in gastrointestinal tract of man and rat

scientific article published on 06 October 2013

Extremely simplified sample preparation for HLA genomic typing

scientific article published on 01 January 1992

Faecal microbiota composition associates with abdominal pain in the general population.

scientific article

Fine-mapping inflammatory bowel disease loci to single-variant resolution

scientific article

Frequency of the new HLA-B*2709 allele in ankylosing spondylitis patients and healthy individuals

scientific article published on 01 August 1995

Functional Analyses of the Crohn's Disease Risk Gene LACC1

scientific article

Functional interaction of CARD15/NOD2 and Crohn's disease-associated TNFalpha polymorphisms

scientific article published on 31 March 2005

Genes and functional GI disorders: from casual to causal relationship.

scientific article published on August 2013

Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene

scientific article published in April 2003

Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome

scientific article

Genetics of irritable bowel syndrome.

scientific article published on 12 February 2016

Genome-Wide Association Study Identifies Two Novel Genomic Regions in Irritable Bowel Syndrome

scientific article published on 01 May 2014

Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota.

scientific article

Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms

scientific article published on 19 January 2019

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scientific article

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

scientific article

Germline genetic contributions to risk for esophageal adenocarcinoma, Barrett's esophagus, and gastroesophageal reflux

scientific article published on 29 October 2013

HLA Associations Distinguish Collagenous From Lymphocytic Colitis

article

HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.

scientific article published on 14 September 2014

HLA-DRB1∗ and allergy to Parietaria: linkage and association analyses

scientific article published on 01 December 1999

Herpes simplex virus infection downmodulates NKG2D ligand expression

scientific article

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

scientific article

Human enteroendocrine cell responses to infection with Chlamydia trachomatis: a microarray study

scientific article published on 16 June 2014

Human local adaptation of the TRPM8 cold receptor along a latitudinal cline.

scientific article

IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease

scientific article

Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE)

scientific article

Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity

scientific article

Identification of a Genetic Variation in ERAP1 Aminopeptidase that Prevents Human Cytomegalovirus miR-UL112-5p-Mediated Immunoevasion

scientific article

Identification of a new WASP and FKBP-like (WAFL) protein in inflammatory bowel disease: a potential marker gene for ulcerative colitis

scientific article published on 25 July 2008

Identification of a novel HLA-B27 subtype by restriction analysis of a cytotoxic gamma delta T cell clone.

scientific article published in October 1994

Improved allelic differentiation using sequence-specific oligonucleotide hybridization incorporating an additional base-analogue mismatch

scientific article

Increased Expression of Toll-Like Receptors 4, 5, and 9 in Small Bowel Mucosa from Patients with Irritable Bowel Syndrome

scientific article published on 29 January 2017

Increased prevalence of rare sucrase-isomaltase (SI) pathogenic variants in irritable bowel syndrome patients

scientific article published on 2 February 2018

Increased serum levels of lipopolysaccharide and antiflagellin antibodies in patients with diarrhea-predominant irritable bowel syndrome

scientific article published on 21 September 2015

Interaction between retinoid acid receptor-related orphan receptor alpha (RORA) and neuropeptide S receptor 1 (NPSR1) in asthma

scientific article

LACC1 polymorphisms in inflammatory bowel disease and juvenile idiopathic arthritis

article

LD mapping of maternally and non-maternally derived alleles and atopy in FcεRI-β

scientific article published on 27 August 2003

Longitudinal Multi-omics Reveals Subset-Specific Mechanisms Underlying Irritable Bowel Syndrome

scientific article published on 10 September 2020

Loss-of-function Variants of the Filaggrin Gene are Associated with Atopic Eczema and Associated Phenotypes in Swedish Families

article

MICA exon 5 microsatellite typing by DNA heteroduplex analysis: a new polymorphism in the transmembrane region

scientific article published on March 1998

Malassezia enhances natural killer cell-induced dendritic cell maturation

scientific article

Malassezia sympodialis Stimulation Differently Affects Gene Expression in Dendritic Cells from Atopic Dermatitis Patients and Healthy Individuals

article

Mapping and sequencing of the murine 'tissue' transglutaminase (Tgm2) gene: absence of mutations in MRLlpr/lpr mice

scientific article published in March 1999

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scientific journal article

Multiple polymorphisms affect expression and function of the neuropeptide S receptor (NPSR1).

scientific article

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

scientific article

NPSR1 polymorphisms influence recurrent abdominal pain in children: a population-based study

scientific article published on 5 August 2014

Neuropeptide S (NPS) variants modify the signaling and risk effects of NPS Receptor 1 (NPSR1) variants in asthma

scientific article

Neuropeptide S receptor 1 expression in the intestine and skin--putative role in peptide hormone secretion

scientific article

Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease

scientific article published on 20 June 2007

No association between the eczema genes COL29A1 and IL31 and inflammatory bowel disease

scientific article published in July 2009

PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease

scientific article

Polymorphism in the retinoic acid metabolizing enzyme CYP26B1 and the development of Crohn's Disease

scientific article

Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus

scientific article

Potential role for the common cystic fibrosis ΔF508 mutation in Crohnʼs disease

scientific article published on 01 May 2007

Predominant T-helper 1 cytokine profile of hepatitis B virus nucleocapsid-specific T cells in acute self-limited hepatitis B.

scientific article published on April 1997

Predominant and stable T cell responses to regions of myelin basic protein can be detected in individual patients with multiple sclerosis

article

Prototypical pacemaker neurons interact with the resident microbiota

scientific article published on 09 July 2020

Reduced efficacy of low FODMAPs diet in patients with IBS-D carrying sucrase-isomaltase (SI) hypomorphic variants

scientific article published on 18 January 2019

Relevance of DNA repair gene polymorphisms to gastric cancer risk and phenotype

scientific article

Relevance of residue 116 of HLA-B27 in determining susceptibility to ankylosing spondylitis.

scientific article published in November 1995

Replication of GWAS-identified systemic lupus erythematosus susceptibility genes affirms B-cell receptor pathway signalling and strengthens the role of IRF5 in disease susceptibility in a Northern European population

scientific article published on 27 October 2011

SOX17 regulates cholangiocyte differentiation and acts as a tumor suppressor in cholangiocarcinoma.

scientific article published on 22 February 2017

Semliki Forest virus nonstructural protein 2 is involved in suppression of the type I interferon response

scientific article

Severe gastrointestinal dysmotility developed after treatment with gonadotropin-releasing hormone analogs

scientific article

Short insertions in the partner strands greatly enhance the discriminating power of DNA heteroduplex analysis: resolution of HLA-DQB1 polymorphisms

scientific article

Solute carriers (SLC) in inflammatory bowel disease: a potential target of probiotics?

scientific article

Stool frequency is associated with gut microbiota composition.

scientific article published on 28 April 2016

Subphenotypes of inflammatory bowel disease are characterized by specific serum protein profiles

scientific article published on 5 October 2017

Sucrase-isomaltase 15Phe IBS risk variant in relation to dietary carbohydrates and faecal microbiota composition.

scientific article published on 13 January 2018

Susceptibility to ankylosing spondylitis correlates with the C-terminal residue of peptides presented by various HLA-B27 subtypes

scientific article published on February 1997

TRPM8 polymorphisms associated with increased risk of IBS-C and IBS-M.

scientific article published on 14 December 2016

Targeted Analysis of Serum Proteins Encoded at Known Inflammatory Bowel Disease Risk Loci

article

Targeted UPLC-MS Metabolic Analysis of Human Faeces Reveals Novel Low-Invasive Candidate Markers for Colorectal Cancer

scientific article published on 01 September 2018

The Crohn's associated NOD2 3020InsC frameshift mutation does not confer susceptibility to ankylosing spondylitis

scientific article published on 01 November 2002

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome

scientific article published in 2021

The asthma candidate gene NPSR1 mediates isoform specific downstream signalling

scientific article

The cystic fibrosis F508del mutation in Crohn's disease

scientific article published on 04 December 2010

The history of genetics in inflammatory bowel disease

scientific article published on January 2014

The impact of Crohn's disease genes on healthy human gut microbiota: a pilot study

scientific article published on 7 January 2013

The oxysterol receptor LXRβ protects against DSS- and TNBS-induced colitis in mice

scientific article published on 07 May 2014

Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort

scientific article published on 27 August 2009

WAFL, a new protein involved in regulation of early endocytic transport at the intersection of actin and microtubule dynamics

scientific article

miR-16 and miR-103 impact 5-HT4 receptor signalling and correlate with symptom profile in irritable bowel syndrome. ⬇️

scientific article published on 31 October 2017

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