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First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease

Gastroenterology (New York, N.Y. 1943), 2017-08, Vol.153 (2), p.609-611.e3

2017

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Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis

EMBO molecular medicine, 2018-04, Vol.10 (4), p.n/a

2018

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Interleukin 15: a key to disrupted intraepithelial lymphocyte homeostasis and lymphomagenesis in celiac disease

Gastroenterology (New York, N.Y. 1943), 2003-09, Vol.125 (3), p.730-745

2003

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Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome

Journal of pediatric gastroenterology and nutrition, 2017-03, Vol.64 (3), p.378-384

2017

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Interleukin-15-Dependent NKp46+ Innate Lymphoid Cells Control Intestinal Inflammation by Recruiting Inflammatory Monocytes

Immunity (Cambridge, Mass.), 2012-07, Vol.37 (1), p.108-121

2012

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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

PloS one, 2018-10, Vol.13 (10), p.e0205826-e0205826

2018

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In Vitro and ex Vivo Activation of the TLR5 Signaling Pathway in Intestinal Epithelial Cells by a Commensal Escherichia coli Strain

The Journal of biological chemistry, 2004-10, Vol.279 (41), p.42984-42992

2004

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AP-2/Eps15 Interaction Is Required for Receptor-Mediated Endocytosis

The Journal of cell biology, 1998-03, Vol.140 (5), p.1055-1062

1998

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Implication of TNF-Related Apoptosis-Inducing Ligand in Inflammatory Intestinal Epithelial Lesions

Gastroenterology (New York, N.Y. 1943), 2006-06, Vol.130 (7), p.1962-1974

2006

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Characterization of Crohn disease in X-linked inhibitor of apoptosis–deficient male patients and female symptomatic carriers

Journal of allergy and clinical immunology, 2014-11, Vol.134 (5), p.1131-1141.e9

2014

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The Tyrosine Kinase Substrate eps15 Is Constitutively Associated with the Plasma Membrane Adaptor AP-2

The Journal of cell biology, 1995-12, Vol.131 (6), p.1831-1838

1995

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Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation

Gastroenterology (New York, N.Y. 1943), 2019-03, Vol.156 (4), p.1206-1210.e1

2019

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Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease

The American journal of gastroenterology, 2011-08, Vol.106 (8), p.1544-1555

2011

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Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group

Inflammatory bowel diseases, 2013-12, Vol.19 (13), p.2820-2828

2013

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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

American journal of human genetics, 2021-06, Vol.108 (6), p.1126-1137

2021

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Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

Journal of Crohn's and colitis, 2018-08, Vol.12 (9), p.1104-1112

2018

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Reduced Expression of FOXP3 and Regulatory T-Cell Function in Severe Forms of Early-onset Autoimmune Enteropathy

Gastroenterology (New York, N.Y. 1943), 2010-09, Vol.139 (3), p.770-778

2010

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Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

Journal of Crohn's and colitis, 2021-03, Vol.15 (3), p.517-518

2021

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Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation

Gastroenterology (New York, N.Y. 1943), 2020-11, Vol.159 (5), p.1968-1971.e4

2020

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Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

Journal of Crohn's and colitis, 2018-09, Vol.12 (9), p.1104-1112

2018

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Molecular Cloning and Characterization of MT-ACT48, a Novel Mitochondrial Acyl-CoA Thioesterase

The Journal of biological chemistry, 1999-07, Vol.274 (27), p.19188-19194

1999

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Copy number variations and founder effect underlying complete IL-10R[beta] deficiency in Portuguese kindreds

PloS one, 2018-10, Vol.13 (10), p.e0205826

2018

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Deficiency in Mucosa‐associated Lymphoid Tissue Lymphoma Translocation 1

Journal of pediatric gastroenterology and nutrition, 2017-03, Vol.64 (3), p.378-384

2017

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The Ear of α-Adaptin Interacts with the COOH-terminal Domain of the Eps15 Protein (∗)

The Journal of biological chemistry, 1996-05, Vol.271 (20), p.12111-12116

1996

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First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis

Interleukin 15: a key to disrupted intraepithelial lymphocyte homeostasis and lymphomagenesis in celiac disease

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome

Interleukin-15-Dependent NKp46+ Innate Lymphoid Cells Control Intestinal Inflammation by Recruiting Inflammatory Monocytes

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

In Vitro and ex Vivo Activation of the TLR5 Signaling Pathway in Intestinal Epithelial Cells by a Commensal Escherichia coli Strain

AP-2/Eps15 Interaction Is Required for Receptor-Mediated Endocytosis

Implication of TNF-Related Apoptosis-Inducing Ligand in Inflammatory Intestinal Epithelial Lesions

Characterization of Crohn disease in X-linked inhibitor of apoptosis–deficient male patients and female symptomatic carriers

The Tyrosine Kinase Substrate eps15 Is Constitutively Associated with the Plasma Membrane Adaptor AP-2

Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation

Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease

Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

Reduced Expression of FOXP3 and Regulatory T-Cell Function in Severe Forms of Early-onset Autoimmune Enteropathy

Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation

Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

Molecular Cloning and Characterization of MT-ACT48, a Novel Mitochondrial Acyl-CoA Thioesterase

Copy number variations and founder effect underlying complete IL-10R[beta] deficiency in Portuguese kindreds

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

Deficiency in Mucosa‐associated Lymphoid Tissue Lymphoma Translocation 1

The Ear of α-Adaptin Interacts with the COOH-terminal Domain of the Eps15 Protein (∗)

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