Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach (Q35648072)

9 August 2017

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach (English)

1 reference

9 August 2017

21

Cheryl Shoubridge

0 references

Isabel Marques

Isabel Marques

1

0 references

Ana Berta Sousa

Ana Berta Sousa

11

0 references

Maria João Sá

Maria João Sá

2

0 references

Jorge, P.

Paula Jorge

22

0 references

Rosário Santos

Rosário Santos

13

0 references

Monique Ryan

Monique M Ryan

15

0 references

author name string

Gabriela Soares

3

1 reference

9 August 2017

Maria do Céu Mota

4

1 reference

9 August 2017

Carla Pinheiro

5

1 reference

9 August 2017

Lisa Aguiar

6

1 reference

9 August 2017

Marta Amado

7

1 reference

9 August 2017

Christina Soares

8

1 reference

9 August 2017

Angelina Calado

9

1 reference

9 August 2017

Patrícia Dias

10

1 reference

9 August 2017

Ana Maria Fortuna

12

1 reference

9 August 2017

Katherine B Howell

14

1 reference

9 August 2017

Richard J Leventer

16

1 reference

9 August 2017

Rani Sachdev

17

1 reference

9 August 2017

Rachael Catford

18

1 reference

9 August 2017

Kathryn Friend

19

1 reference

9 August 2017

Tessa R Mattiske

20

1 reference

9 August 2017

25 February 2015

1 reference

Molecular genetics & genomic medicine

9 August 2017

1 reference

9 August 2017

3

1 reference

9 August 2017

3

1 reference

9 August 2017

203-214

1 reference

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

CDKL5 and ARX mutations in males with early-onset epilepsy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

LOVD v.2.0: the next generation in gene variant databases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

ARX spectrum disorders: making inroads into the molecular pathology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Novel mutation in ARX associated with early hand preference and a mild phenotype.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Frameshift mutations of the ARX gene in familial Ohtahara syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Expansion of the ARX spectrum.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Screening of the ARX gene in 682 retarded males.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMGG3.133

Clinical study of two brothers with a novel 33 bp duplication in theARXgene

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMGG3.133

A novel de novo 27 bp duplication of theARXgene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMGG3.133

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444162

Familial Ohtahara syndrome due to a novel ARX gene mutation

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26029707

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26029707

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MGG3.133

1 reference

release_4sz2q2cb7vcurn4hgrnepi376q

9 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4sz2q2cb7vcurn4hgrnepi376q

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

4444162

1 reference

9 August 2017

1 reference