Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. - Wikidata - wikimedia - TriplyDB

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

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Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

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Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

http://www.wikidata.org/entity/Q37058511

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 26 August 2015

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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Reinitiation of mRNA translati ...... ein-truncating variant in ARX.

@en

Reinitiation of mRNA translati ...... ein-truncating variant in ARX.

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type

label

Reinitiation of mRNA translati ...... ein-truncating variant in ARX.

@en

Reinitiation of mRNA translati ...... ein-truncating variant in ARX.

@nl

prefLabel

Reinitiation of mRNA translati ...... ein-truncating variant in ARX.

@en

Reinitiation of mRNA translati ...... ein-truncating variant in ARX.

@nl

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European Journal of Human Genetics

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Reinitiation of mRNA translati ...... ein-truncating variant in ARX.

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Amy Knight Johnson

http://www.w3.org/2001/XMLSchema#string

Ching Moey

http://www.w3.org/2001/XMLSchema#string

Jorge Vidaurre

http://www.w3.org/2001/XMLSchema#string

Mary Karn

http://www.w3.org/2001/XMLSchema#string

Scott Topper

http://www.w3.org/2001/XMLSchema#string

Soma Das

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P2860

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Organizing principles of mammalian nonsense-mediated mRNA decay

Cofactor-activated phosphorylation is required for inhibition of cortical neuron differentiation by Groucho/TLE1.

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.

Constraints on reinitiation of translation in mammals

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).

Selection of initiation sites by eucaryotic ribosomes: effect of inserting AUG triplets upstream from the coding sequence for preproinsulin.

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681-689

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scholarly article

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10.1038/EJHG.2015.176

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5

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24

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Cheryl Shoubridge

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2015-08-26T00:00:00Z

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1018981200

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4930085

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