Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome

IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome

(2017) Veronica B. Busoni et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations

(2017) Eitaro Hiejima et al.   MEDICINE

Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome

(2016) Way Seah Lee et al.   GENE

Btn2a2, a T cell immunomodulatory molecule coregulated with MHC class II genes

(2016) Kerstin Sarter et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome

(2016) Bixia Zheng et al.   Molecular Medicine Reports

The I-TASSER Suite: protein structure and function prediction

(2015) Jianyi Yang et al.   NATURE METHODS

Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies

(2015) Roberto Berni Canani et al.   Nature Reviews Gastroenterology & Hepatology

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

(2014) Holm H. Uhlig et al.   GASTROENTEROLOGY

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

(2014) Sterling C Eckard et al.   NATURE IMMUNOLOGY

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome

(2013) A. Fabre et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Butyrophilin Btn2a2 Inhibits TCR Activation and Phosphatidylinositol 3-Kinase/Akt Pathway Signaling and Induces Foxp3 Expression in T Lymphocytes

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Syndromic diarrhea/Tricho-hepato-enteric syndrome

(2013) Alexandre Fabre et al.   Orphanet Journal of Rare Diseases

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

(2012) Alexandre Fabre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

(2012) Miao-Xin Li et al.   NUCLEIC ACIDS RESEARCH

Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

(2010) Jane Louise Hartley et al.   GASTROENTEROLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome

(2010) Alexandre Fabre et al.   HUMAN MUTATION

BTN1A1, the Mammary Gland Butyrophilin, and BTN2A2 Are Both Inhibitors of T Cell Activation

(2010) I. A. Smith et al.   JOURNAL OF IMMUNOLOGY

I-TASSER: a unified platform for automated protein structure and function prediction

(2010) Ambrish Roy et al.   Nature Protocols

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

I-TASSER server for protein 3D structure prediction

(2008) Yang Zhang   BMC BIOINFORMATICS

Tricho-hepato-enteric syndrome presenting with mild colitis

(2008) Odul Egritas et al.   EUROPEAN JOURNAL OF PEDIATRICS