Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease (Q36498954)

14 August 2017

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title

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

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14 August 2017

3

James R Lupski

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14 August 2017

Mehrdad Khajavi

1

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PubMed ID

16757948

14 August 2017

Ken Inoue

series ordinal

2

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14 August 2017

7 June 2006

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European Journal of Human Genetics

14 August 2017

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14 August 2017

14

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14 August 2017

10

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14 August 2017

1074-1081

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

14 August 2017

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

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

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Nonsense-mediated decay of human HEXA mRNA.

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Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

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

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

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

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

21 January 2018

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

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Analysis of the Frequent R1141X Mutation in theABCC6Gene in Pseudoxanthoma Elasticum

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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

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Nonsense-mediated decay approaches the clinic

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

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

21 January 2018

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

21 January 2018

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

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21 January 2018

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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

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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

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AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

21 January 2018

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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

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21 January 2018

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

21 January 2018

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

21 January 2018

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7 January 2021

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

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Does autosomal dominant pseudoxanthoma elasticum exist?

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

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

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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