Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes (Q84256421)

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2 February 2020

title

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes (English)

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2 February 2020

11

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9

Thierry Carrel

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2 February 2020

author name string

István Magyar

1

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2 February 2020

Dvora Colman

2

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2 February 2020

Eliane Arnold

3

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2 February 2020

Daniela Baumgartner

4

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2 February 2020

Armand Bottani

5

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2 February 2020

Siv Fokstuen

6

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Marie-Claude Addor

7

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Wolfgang Berger

8

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2 February 2020

Beat Steinmann

10

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2 February 2020

publication date

1 September 2009

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2 February 2020

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2 February 2020

volume

30

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issue

9

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2 February 2020

page(s)

1355-1364

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Association of the cytotoxic T lymphocyte-associated antigen 4 gene with type 1 diabetes: evidence for independent effects of two polymorphisms on the same haplotype block

2 February 2020

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A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer

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Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

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

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Chain-terminating mutations in the APC gene lead to alterations in APC RNA and protein concentration

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A short ultraconserved sequence drives transcription from an alternate FBN1 promoter

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Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

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Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

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Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes

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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

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Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

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7 January 2021

Quantitative DNA methylation analysis based on four-dye trace data from direct sequencing of PCR amplificates

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7 January 2021

The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells

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7 January 2021

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7 January 2021

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7 January 2021

The meaning of nonsense

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7 January 2021

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

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7 January 2021

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21058

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2 February 2020

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