(Q41921225)

14 October 2017

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO (English)

1 reference

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X-linked intellectual disability

13 May 2020

main subject

disability

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disability affecting intellectual abilities

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26

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13 May 2020

Martina Skopkova

1

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13 May 2020

Lyndal Henden

9

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13 May 2020

Jozef Ukropec

15

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13 May 2020

Stefan Haas

21

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13 May 2020

Thomas Dever

25

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13 May 2020

Esther Leshinsky-Silver

12

object named as

Esther Leshinsky-Silver

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13 May 2020

4

Clesson E Turner

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13 May 2020

author name string

Friederike Hennig

2

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13 May 2020

Byung-Sik Shin

3

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13 May 2020

Daniela Stanikova

5

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13 May 2020

Katarina Brennerova

6

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13 May 2020

Juraj Stanik

7

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13 May 2020

Ute Fischer

8

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13 May 2020

Ulrich Müller

10

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13 May 2020

Daniela Steinberger

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13 May 2020

Armand Bottani

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13 May 2020

Timea Kurdiova

14

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13 May 2020

Olga Nyitrayova

16

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13 May 2020

Miriam Kolnikova

17

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13 May 2020

Iwar Klimes

18

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13 May 2020

Guntram Borck

19

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13 May 2020

Melanie Bahlo

20

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13 May 2020

Joo-Ran Kim

22

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13 May 2020

Leda E Lotspeich-Cole

23

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13 May 2020

Daniela Gasperikova

24

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13 May 2020

publication date

5 January 2017

1 reference

14 October 2017

1 reference

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13 May 2020

volume

38

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13 May 2020

issue

4

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13 May 2020

page(s)

409-425

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describes a project that uses

13 May 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6267786/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Translation initiation factor 2gamma mutant alters start codon selection independent of Met-tRNA binding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Generating linkage mapping files from Affymetrix SNP chip data

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.23170

5-Fluoroorotic acid as a selective agent in yeast molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Mutational analysis of the HIS4 translational initiator region in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Gene-specific regulation by general translation factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Genetic selection for mutations that reduce or abolish ribosomal recognition of the HIS4 translational initiator region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

ER-stress-induced transcriptional regulation increases protein synthesis leading to cell death.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Regulated translation initiation controls stress-induced gene expression in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

An integrated stress response regulates amino acid metabolism and resistance to oxidative stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

XIBD: software for inferring pairwise identity by descent on the X chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

A hierarchy of trans-acting factors modulates translation of an activator of amino acid biosynthetic genes in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Translational regulation of GCN4 and the general amino acid control of yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Molecular mechanism of scanning and start codon selection in eukaryotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

The scanning mechanism of eukaryotic translation initiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Structural changes enable start codon recognition by the eukaryotic translation initiation complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Wolcott-Rallison syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in β-cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

The best approach: homogenization or manual permeabilization of human skeletal muscle fibers for respirometry?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Conformational Differences between Open and Closed States of the Eukaryotic Translation Initiation Complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Translation reinitiation at alternative open reading frames regulates gene expression in an integrated stress response

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Selection of autophagy or apoptosis in cells exposed to ER-stress depends on ATF4 expression pattern with or without CHOP expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Analysis Tool Web Services from the EMBL-EBI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

New insights into translational regulation in the endoplasmic reticulum unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Targeted induction of endoplasmic reticulum stress induces cartilage pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

X-ray structure of translation initiation factor eIF2gamma: implications for tRNA and eIF2alpha binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Signal integration in the endoplasmic reticulum unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Childhood ataxia with diffuse central nervous system hypomyelination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

C/EBP homology protein (CHOP) interacts with activating transcription factor 4 (ATF4) and negatively regulates the stress-dependent induction of the asparagine synthetase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

The unfolded protein response in vanishing white matter disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Reinitiation involving upstream ORFs regulates ATF4 mRNA translation in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Fright is a provoking factor in vanishing white matter disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

The endoplasmic reticulum stress response in the pancreatic β-cell

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

The unfolded protein response: from stress pathway to homeostatic regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Upstream Open Reading Frames Differentially Regulate Gene-specific Translation in the Integrated Stress Response

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

PERK EIF2AK3 control of pancreatic beta cell differentiation and proliferation is required for postnatal glucose homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Genetic characterization of the Saccharomyces cerevisiae translational initiation suppressors sui1, sui2 and SUI3 and their effects on HIS4 expression

21 January 2018

1 reference

12 December 2020

High-resolution respirometry: OXPHOS protocols for human cells and permeabilized fibers from small biopsies of human muscle

1 reference

12 December 2020

Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?

1 reference

12 December 2020

Mutations in GCD11, the structural gene for eIF-2 gamma in yeast, alter translational regulation of GCN4 and the selection of the start site for protein synthesis.

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.23170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6267786&resulttype=core&format=json

13 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6267786&resulttype=core&format=json

13 May 2020

1 reference