MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions (Q33283739)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17480217%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions (English)

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30 December 2019

3

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30 December 2019

author name string

Carmela Laperuta

1

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30 December 2019

Letizia Spizzichino

2

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30 December 2019

Jlenia Monfregola

4

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30 December 2019

Antonio Maiorino

5

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30 December 2019

Angela D'Eustacchio

6

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30 December 2019

Valerio Ventruto

7

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30 December 2019

Giovanni Neri

8

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30 December 2019

Michele D'Urso

9

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30 December 2019

Pietro Chiurazzi

10

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30 December 2019

Matilde Valeria Ursini

11

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30 December 2019

Maria Giuseppina Miano

12

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30 December 2019

publication date

4 May 2007

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30 December 2019

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30 December 2019

volume

8

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30 December 2019

page(s)

25

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ARX: a gene for all seasons

30 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

Neural crest origins of the neck and shoulder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

X-linked mental retardation (XLMR): from clinical conditions to cloned genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

The role of X-chromosome inactivation in the manifestation of Rett syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

Cervical encephalocele in a newborn--Chiari III malformation. Case report and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

Functional domains of the Drosophila Engrailed protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1868705

Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

The ARX mutations: a frequent cause of X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

Origin of anterior patterning. How old is our head?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

Screening of the ARX gene in 682 retarded males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

Dementia in Down's syndrome: Observations from a neurology clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-25

Polyalanine expansion of ARX associated with cryptogenic West syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17480217

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-8-25

1 reference

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Dimensions Publication ID

30 December 2019

1046496156

0 references

Fatcat ID

release_rft2efgiazccphhiwj5ef7p3bu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rft2efgiazccphhiwj5ef7p3bu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17480217%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

PubMed publication ID

17480217

1 reference