(Q33405662)

26 July 2017

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders (English)

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26 July 2017

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9

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26 July 2017

Lam S Nguyen

1

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James F. Gusella

5

object named as

James F Gusella

1 reference

26 July 2017

3

Jill A Rosenfeld

1 reference

26 July 2017

Hyung-Goo Kim

2

1 reference

26 July 2017

Yiping Shen

4

1 reference

26 July 2017

Yves Lacassie

6

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26 July 2017

Lawrence C Layman

7

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26 July 2017

Lisa G Shaffer

8

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26 July 2017

31 January 2013

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26 July 2017

Human Molecular Genetics

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26 July 2017

22

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26 July 2017

9

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26 July 2017

1816-1825

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The genetic landscape of intellectual disability arising from chromosome X.

26 July 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Rho proteins, mental retardation and the cellular basis of cognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

hUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

An alternative branch of the nonsense-mediated decay pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

A UPF3-mediated regulatory switch that maintains RNA surveillance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

The RNA binding protein Pub1 modulates the stability of transcripts containing upstream open reading frames

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Stabilization and ribosome association of unspliced pre-mRNAs in a yeast upf1- mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

An internal open reading frame triggers nonsense-mediated decay of the yeast SPT10 mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Long 3'-UTRs target wild-type mRNAs for nonsense-mediated mRNA decay in Saccharomyces cerevisiae.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

RNA homeostasis governed by cell type-specific and branched feedback loops acting on NMD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

The nonsense-mediated decay pathway maintains synapse architecture and synaptic vesicle cycle efficacy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Nonsense-mediated mRNA decay effectors are essential for zebrafish embryonic development and survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

The exon junction complex component Magoh controls brain size by regulating neural stem cell division.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

The EJC factor eIF4AIII modulates synaptic strength and neuronal protein expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Structural insights into the exon junction complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Genome-wide analysis of mRNAs regulated by the nonsense-mediated and 5' to 3' mRNA decay pathways in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Nonsense-mediated mRNA decay factors act in concert to regulate common mRNA targets

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Mapping and quantifying mammalian transcriptomes by RNA-Seq

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Gender-specific differences in expression in human lymphoblastoid cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Comparative analysis of different label-free mass spectrometry based protein abundance estimates and their correlation with RNA-Seq gene expression data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Nonsense-mediated mRNA decay in Drosophila: at the intersection of the yeast and mammalian pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Functions of the nonsense-mediated mRNA decay pathway in Drosophila development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

An eIF4AIII-containing complex required for mRNA localization and nonsense-mediated mRNA decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Quality control of gene expression: a stepwise assembly pathway for the surveillance complex that triggers nonsense-mediated mRNA decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Upf1p control of nonsense mRNA translation is regulated by Nmd2p and Upf3p

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Heritability in the efficiency of nonsense-mediated mRNA decay in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

SMD and NMD are competitive pathways that contribute to myogenesis: effects on PAX3 and myogenin mRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Autoregulation of the nonsense-mediated mRNA decay pathway in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Introducing sense into nonsense in treatments of human genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Common deletion polymorphisms in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Integrated detection and population-genetic analysis of SNPs and copy number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Whole population, genome-wide mapping of hidden relatedness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT035

21 January 2018

Identifiers

DOI

10.1093/HMG/DDT035

1 reference

26 July 2017

1 reference