Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. - Wikidata - awgldk - TriplyDB

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

http://www.wikidata.org/entity/Q34397488

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Genetics and Therapeutics in Pediatric Ulcerative Colitis: the Past, Present and Future Role of genetics in pediatric inflammatory bowel disease The diagnostic approach to monogenic very early onset inflammatory bowel disease Central role of gimap5 in maintaining peripheral tolerance and T cell homeostasis in the gut Genetics of inflammatory bowel disease from multifactorial to monogenic forms Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.History and current status of newborn screening for severe combined immunodeficiency.Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency Defects in NADPH Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease Maintaining intestinal health: the genetics and immunology of very early onset inflammatory bowel disease.Opportunities and challenges of whole-genome and -exome sequencing.Primary Immunodeficiencies and Inflammatory Disease: A Growing Genetic Intersection.Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodefici Paneth cell defects in Crohn's disease patients promote dysbiosis.Age-related differences in presentation and course of inflammatory bowel disease: an update on the population-based literature.Very early-onset inflammatory bowel disease: gaining insight through focused discovery.Molecular Analysis of Inflammatory Bowel Disease: Clinically Useful Tools for Diagnosis, Response Prediction, and Monitoring of Targeted Therapy.Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.Genetics and Pathogenesis of Inflammatory Bowel Disease.Small Bowel Congenital Anomalies: a Review and Update.The gut microbiota and inflammatory bowel diseases.The Contributions of Human Mini-Intestines to the Study of Intestinal Physiology and Pathophysiology.The role of monogenic disease in children with very early onset inflammatory bowel disease.Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.Gastrointestinal microphysiological systems.Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.The Crohn's disease-associated polymorphism in ATG16L1 (rs2241880) reduces SHIP gene expression and activity in human subjects.Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison.The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life.Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects Severe combined immunodeficiencies and related disorders.NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.Phenotype and Management of Infantile-onset Inflammatory Bowel Disease: Experience from a Tertiary Care Center in China.Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.[TTC7A, a critical effector for the intestinal and immune system homeostasis].

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P2860

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

http://www.wikidata.org/entity/Q34397488

description

2014 nî lūn-bûn

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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հունվարին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Mutations in tetratricopeptide ...... et inflammatory bowel disease.

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Mutations in tetratricopeptide ...... et inflammatory bowel disease.

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Mutations in tetratricopeptide ...... et inflammatory bowel disease.

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Mutations in tetratricopeptide ...... et inflammatory bowel disease.

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Mutations in tetratricopeptide ...... et inflammatory bowel disease.

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Mutations in tetratricopeptide ...... et inflammatory bowel disease.

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Mutations in tetratricopeptide ...... et inflammatory bowel disease.

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Mutations in tetratricopeptide ...... et inflammatory bowel disease.

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Mutations in tetratricopeptide ...... et inflammatory bowel disease.

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J.GASTRO.2014.01.015

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Gastroenterology

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Mutations in tetratricopeptide ...... set inflammatory bowel disease

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Abdul Elkadri

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Aleixo M Muise

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Anne M Griffiths

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Christoph Klein

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Christoph Walz

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Conghui Guo

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Dermot P B McGovern

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Ehsan Bahrami

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Eric Schadt

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Ernest Cutz

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P2860

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

Identification and selected reaction monitoring (SRM) quantification of endocytosis factors associated with Numb

Ligand binding by TPR domains

YGR198w (YPP1) targets A30P alpha-synuclein to the vacuole for degradation.

Assembly of the PtdIns 4-kinase Stt4 complex at the plasma membrane requires Ypp1 and Efr3.

PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity

NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

TPR proteins: the versatile helix

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1028-1039

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scholarly article

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10.1053/J.GASTRO.2014.01.015

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4

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146

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Stephen C Pelsue

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2014-01-11T00:00:00Z

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259719157

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24417819

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Very early onset inflammatory bowel disease

inflammatory bowel diseases

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4002656

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