(Q36498954)

14 August 2017

1 reference

title

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease (English)

1 reference

14 August 2017

3

James R Lupski

1 reference

14 August 2017

Mehrdad Khajavi

1

1 reference

PubMed ID

16757948

14 August 2017

Ken Inoue

series ordinal

2

1 reference

14 August 2017

7 June 2006

1 reference

European Journal of Human Genetics

14 August 2017

1 reference

14 August 2017

14

1 reference

14 August 2017

1074-1081

1 reference

14 August 2017

10

1 reference

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201649

14 August 2017

0 references

cites work

Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

SMG-2 is a phosphorylated protein required for mRNA surveillance in Caenorhabditis elegans and related to Upf1p of yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Upf1p, Nmd2p, and Upf3p are interacting components of the yeast nonsense-mediated mRNA decay pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

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/10.1038%2FSJ.EJHG.5201649

Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Mammalian Staufen1 recruits Upf1 to specific mRNA 3'UTRs so as to elicit mRNA decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Nonsense-mediated decay of human HEXA mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Boundary-independent polar nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Absence of messenger RNA for beta globin chain in beta(0) thalassaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Analysis of the Frequent R1141X Mutation in theABCC6Gene in Pseudoxanthoma Elasticum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Rapid functional analysis in Xenopus oocytes of Po protein adhesive interactions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Nonsense-mediated decay approaches the clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

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/10.1038%2FSJ.EJHG.5201649

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/10.1038%2FSJ.EJHG.5201649

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

PAX6 mutations: genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

7 January 2021

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

7 January 2021

Does autosomal dominant pseudoxanthoma elasticum exist?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

7 January 2021

Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

7 January 2021

Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201649

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201649

1 reference

PubMed ID

16757948

Dimensions Publication ID

14 August 2017

0 references

1 reference

PubMed ID

16757948