Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene (Q40134823)

17 September 2017

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene (English)

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17 September 2017

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17 September 2017

Cheryl Shoubridge

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author name string

Desiree Cloosterman

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2

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PubMed ID

17490853

17 September 2017

Emma Parkinson-Lawerence

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3

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PubMed ID

17490853

17 September 2017

Douglas Brooks

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4

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17 September 2017

9 May 2007

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17 September 2017

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90

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17 September 2017

59-71

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Nonspecific X-linked mental retardation II: the frequency in British Columbia.

17 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Non-specific X linked mental retardation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

X-linked mental retardation: many genes for a complex disorder

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

ARX: a gene for all seasons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

The Xenopus arx gene is expressed in the developing rostral forebrain.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Regulation of chemosensory and GABAergic motor neuron development by the C. elegans Aristaless/Arx homolog alr-1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

The simultaneous loss of Arx and Pax4 genes promotes a somatostatin-producing cell fate specification at the expense of the alpha- and beta-cell lineages in the mouse endocrine pancreas

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Opposing actions of Arx and Pax4 in endocrine pancreas development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Alanine tracts: the expanding story of human illness and trinucleotide repeats

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

The other trinucleotide repeat: polyalanine expansion disorders

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

The role of ARX in cortical development

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Importin 13: a novel mediator of nuclear import and export

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Ubc9 interacts with a nuclear localization signal and mediates nuclear localization of the paired-like homeobox protein Vsx-1 independent of SUMO-1 modification

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Functional domains of paired-like homeoprotein Cart1 and the relationship between dimerization and transcription activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Regulated nuclear trafficking of the homeodomain protein otx1 in cortical neurons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

ARX mutations in X-linked lissencephaly with abnormal genitalia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

Recombination-mediated PCR-directed plasmid construction in vivo in yeast

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.03.005

10.1016/J.YGENO.2007.03.005

7 January 2021

Identifiers

DOI

1 reference

17 September 2017

1 reference

PubMed ID

17490853