相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H. Hu et al.
MOLECULAR PSYCHIATRY (2016)
Two Novel EIF2S3 Mutations Associated with Syndromic Intellectual Disability with Severe Microcephaly, Growth Retardation, and Epilepsy
Stephanie Moortgat et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
XIBD: software for inferring pairwise identity by descent on the X chromosome
Lyndal Henden et al.
BIOINFORMATICS (2016)
Upstream Open Reading Frames Differentially Regulate Gene-specific Translation in the Integrated Stress Response
Sara K. Young et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
RPL10 Mutation Segregating in a Family with X-Linked Syndromic Intellectual Disability
Julien Thevenon et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly
Baroj Abdulkarim et al.
DIABETES (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability
Kristin D. Kernohan et al.
HUMAN MOLECULAR GENETICS (2015)
A Novel Mutation in RPL10(Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia
Ginevra Zanni et al.
HUMAN MUTATION (2015)
Defects in tRNA Anticodon Loop 2′-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1
Michael P. Guy et al.
HUMAN MUTATION (2015)
Conformational Differences between Open and Closed States of the Eukaryotic Translation Initiation Complex
Jose L. Llacer et al.
MOLECULAR CELL (2015)
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families
Behzad Davarniya et al.
PLOS ONE (2015)
Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
Matthis Synofzik et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
The best approach: Homogenization or manual permeabilization of human skeletal muscle fibers for respirometry?
Steen Larsen et al.
ANALYTICAL BIOCHEMISTRY (2014)
The Scanning Mechanism of Eukaryotic Translation Initiation
Alan G. Hinnebusch
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 83 (2014)
Structural Changes Enable Start Codon Recognition by the Eukaryotic Translation Initiation Complex
Tanweer Hussain et al.
CELL (2014)
Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome
F. Ezgu et al.
CLINICAL GENETICS (2014)
A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans
Susan S. Brooks et al.
GENETICS (2014)
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype
Setsuko Hasegawa et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder
Stavit A. Shalev et al.
PEDIATRIC DIABETES (2014)
Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype
Miguel Lopez de Heredia et al.
GENETICS IN MEDICINE (2013)
ER-stress-induced transcriptional regulation increases protein synthesis leading to cell death
Jaeseok Han et al.
NATURE CELL BIOLOGY (2013)
Analysis Tool Web Services from the EMBL-EBI
Hamish McWilliam et al.
NUCLEIC ACIDS RESEARCH (2013)
Selection of autophagy or apoptosis in cells exposed to ER-stress depends on ATF4 expression pattern with or without CHOP expression
Hiroki Matsumoto et al.
BIOLOGY OPEN (2013)
Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability
Muzammil Ahmad Khan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in NSUN2 Cause Autosomal-Recessive Intellectual Disability
Lia Abbasi-Moheb et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
Ghada M. H. Abdel-Salam et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS
Anne-Katrin Emde et al.
BIOINFORMATICS (2012)
elF2γ Mutation that Disrupts elF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation
Guntram Borck et al.
MOLECULAR CELL (2012)
New Insights into Translational Regulation in the Endoplasmic Reticulum Unfolded Protein Response
Graham D. Pavitt et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2012)
Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors
Cathryn J. Poulton et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Mutation and Expression Analyses of the Ribosomal Protein Gene RPL10 in an Extended German Sample of Patients With Autism Spectrum Disorder
A. Chiocchetti et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress
Ira Tabas et al.
NATURE CELL BIOLOGY (2011)
Molecular Mechanism of Scanning and Start Codon Selection in Eukaryotes
Alan G. Hinnebusch
MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS (2011)
The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation
Peter Walter et al.
SCIENCE (2011)
The endoplasmic reticulum stress response in the pancreatic beta-cell
A. Volchuk et al.
DIABETES OBESITY & METABOLISM (2010)
The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in beta-cells
R. J. Kaufman et al.
DIABETES OBESITY & METABOLISM (2010)
Wolcott-Rallison syndrome
Cecile Julier et al.
ORPHANET JOURNAL OF RARE DISEASES (2010)
Generating linkage mapping files from Affymetrix SNP chip data
M. Bahlo et al.
BIOINFORMATICS (2009)
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases
Pierre Labauge et al.
BRAIN (2009)
Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families
Oscar Rubio-Cabezas et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Patrick S. Tarpey et al.
NATURE GENETICS (2009)
Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology
M. Helen Rajpar et al.
PLOS GENETICS (2009)
C/EBP Homology Protein (CHOP) Interacts with Activating Transcription Factor 4 (ATF4) and Negatively Regulates the Stress-dependent Induction of the Asparagine Synthetase Gene
Nan Su et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Translation Initiation Factor 2γ Mutant Alters Start Codon Selection Independent of Met-tRNA Binding
Pankaj V. Alone et al.
MOLECULAR AND CELLULAR BIOLOGY (2008)
Signal integration in the endoplasmic reticulum unfolded protein response
David Ron et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2007)
Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function
Kwok Yeung Tsang et al.
PLOS BIOLOGY (2007)
PERK EIF2AK3 control of pancreatic β cell differentiation and proliferation is required for postnatal glucose homeostasis
Wei Zhang et al.
CELL METABOLISM (2006)
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism
S. M. Klauck et al.
MOLECULAR PSYCHIATRY (2006)
Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
J Senderek et al.
NATURE GENETICS (2005)
WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic β-cells
SG Fonseca et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients
L Kantor et al.
HUMAN GENETICS (2005)
The unfolded protein response in vanishing white matter disease
JP van der Voorn et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2005)
Fright is a provoking factor in vanishing white matter disease
G Vermeulen et al.
ANNALS OF NEUROLOGY (2005)
Translational regulation of GCN4 and the general amino acid control of yeast
AG Hinnebusch
ANNUAL REVIEW OF MICROBIOLOGY (2005)
X-ray structure of translation initiation factor eIF2γ -: Implications for tRNA and eIF2α binding
A Roll-Mecak et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Reinitiation involving upstream ORFs regulates ATF4 mRNA translation in mammalian cells
KM Vattem et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine- binding protein cause nonsyndromic X-linked mental retardation
K Freude et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Translation reinitiation at alternative open reading frames regulates gene expression in an integrated stress response
PD Lu et al.
JOURNAL OF CELL BIOLOGY (2004)
An integrated stress response regulates amino acid metabolism and resistance to oxidative stress
HP Harding et al.
MOLECULAR CELL (2003)
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder
E Leshinsky-Silver et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2002)
Gene-specific regulation by general translation factors
TE Dever
CELL (2002)
Diabetes mellitus and exocrine pancreatic dysfunction in Perk-/- mice reveals a role for translational control in secretory cell survival
HP Harding et al.
MOLECULAR CELL (2001)
Regulated translation initiation controls stress-induced gene expression in mammalian cells
HP Harding et al.
MOLECULAR CELL (2000)
分享论文
