EIF2S3Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
EIF2S3Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 38, Issue 4, Pages 409-425
Publisher
Wiley
Online
2017-01-06
DOI
10.1002/humu.23170
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Two novelEIF2S3mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy
- (2016) Stéphanie Moortgat et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- XIBD: software for inferring pairwise identity by descent on the X chromosome
- (2016) Lyndal Henden et al. BIOINFORMATICS
- Upstream Open Reading Frames Differentially Regulate Gene-specific Translation in the Integrated Stress Response
- (2016) Sara K. Young et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability
- (2015) Julien Thevenon et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A Missense Mutation inPPP1R15BCauses a Syndrome Including Diabetes, Short Stature, and Microcephaly
- (2015) Baroj Abdulkarim et al. DIABETES
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene,PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability
- (2015) Kristin D. Kernohan et al. HUMAN MOLECULAR GENETICS
- A Novel Mutation inRPL10(Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia
- (2015) Ginevra Zanni et al. HUMAN MUTATION
- Defects in tRNA Anticodon Loop 2′-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations inFTSJ1
- (2015) Michael P. Guy et al. HUMAN MUTATION
- Conformational Differences between Open and Closed States of the Eukaryotic Translation Initiation Complex
- (2015) Jose L. Llácer et al. MOLECULAR CELL
- X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
- (2015) H Hu et al. MOLECULAR PSYCHIATRY
- The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families
- (2015) Behzad Davarniya et al. PLoS One
- Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
- (2014) Matthis Synofzik et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Scanning Mechanism of Eukaryotic Translation Initiation
- (2014) Alan G. Hinnebusch Annual Review of Biochemistry
- Structural Changes Enable Start Codon Recognition by the Eukaryotic Translation Initiation Complex
- (2014) Tanweer Hussain et al. CELL
- A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans
- (2014) S. S. Brooks et al. GENETICS
- Whole-exome sequence analysis of ataxia telangiectasia-like phenotype
- (2014) Setsuko Hasegawa et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- The best approach: Homogenization or manual permeabilization of human skeletal muscle fibers for respirometry?
- (2013) Steen Larsen et al. ANALYTICAL BIOCHEMISTRY
- Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome
- (2013) F. Ezgu et al. CLINICAL GENETICS
- Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype
- (2013) Miguel López de Heredia et al. GENETICS IN MEDICINE
- ER-stress-induced transcriptional regulation increases protein synthesis leading to cell death
- (2013) Jaeseok Han et al. NATURE CELL BIOLOGY
- Analysis Tool Web Services from the EMBL-EBI
- (2013) Hamish McWilliam et al. NUCLEIC ACIDS RESEARCH
- Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations inIER3IP1: insights into the natural history of a rare disorder
- (2013) Stavit A Shalev et al. PEDIATRIC DIABETES
- Selection of autophagy or apoptosis in cells exposed to ER-stress depends on ATF4 expression pattern with or without CHOP expression
- (2013) H. Matsumoto et al. Biology Open
- Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability
- (2012) Muzammil Ahmad Khan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
- (2012) Lia Abbasi-Moheb et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A homozygousIER3IP1mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
- (2012) Ghada M.H. Abdel-Salam et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS
- (2012) Anne-Katrin Emde et al. BIOINFORMATICS
- eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation
- (2012) Guntram Borck et al. MOLECULAR CELL
- New Insights into Translational Regulation in the Endoplasmic Reticulum Unfolded Protein Response
- (2012) G. D. Pavitt et al. Cold Spring Harbor Perspectives in Biology
- Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors
- (2011) Cathryn J. Poulton et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder
- (2011) A. Chiocchetti et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Molecular Mechanism of Scanning and Start Codon Selection in Eukaryotes
- (2011) A. G. Hinnebusch MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS
- Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress
- (2011) Ira Tabas et al. NATURE CELL BIOLOGY
- The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation
- (2011) P. Walter et al. SCIENCE
- The endoplasmic reticulum stress response in the pancreatic β-cell
- (2010) A. Volchuk et al. DIABETES OBESITY & METABOLISM
- The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in β-cells
- (2010) R. J. Kaufman et al. DIABETES OBESITY & METABOLISM
- Wolcott-Rallison syndrome
- (2010) Cécile Julier et al. Orphanet Journal of Rare Diseases
- Generating linkage mapping files from Affymetrix SNP chip data
- (2009) M. Bahlo et al. BIOINFORMATICS
- Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases
- (2009) P. Labauge et al. BRAIN
- Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families
- (2009) Oscar Rubio-Cabezas et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- (2009) Patrick S Tarpey et al. NATURE GENETICS
- Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology
- (2009) M. Helen Rajpar et al. PLoS Genetics
- C/EBP Homology Protein (CHOP) Interacts with Activating Transcription Factor 4 (ATF4) and Negatively Regulates the Stress-dependent Induction of the Asparagine Synthetase Gene
- (2008) Nan Su et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Translation Initiation Factor 2 Mutant Alters Start Codon Selection Independent of Met-tRNA Binding
- (2008) P. V. Alone et al. MOLECULAR AND CELLULAR BIOLOGY
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started