(Q33641779)

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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

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Europe PubMed Central

PubMed publication ID

28 July 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Cheryl Shoubridge

1

object named as

Cheryl Shoubridge

0 references

object named as

David Coman

5

0 references

Tjitske Kleefstra

8

object named as

Tjitske Kleefstra

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

May Huey Tan

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Tod Fullston

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Desiree Cloosterman

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

George McGillivray

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Grazia M Mancini

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

publication date

5 January 2010

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

copyright license

Creative Commons Attribution 2.0 Generic

5 January 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

1 reference

April 2022 Public Data File from Crossref

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Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

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1 reference

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Structural basis for nuclear import complex dissociation by RanGTP

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Heterozygous mutations of OTX2 cause severe ocular malformations

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Homeodomain revisited: a lesson from disease-causing mutations

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X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting

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21 June 2018

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

1 reference

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21 June 2018

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

1 reference

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ARX mutations in X-linked lissencephaly with abnormal genitalia

1 reference

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Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.

1 reference

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21 June 2018

The spectrum of hypopituitarism caused by PROP1 mutations

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21 June 2018

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

1 reference

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21 June 2018

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

1 reference

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21 June 2018

PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency

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Importin 13: a novel mediator of nuclear import and export

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Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

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Doublecortin mutations cluster in evolutionarily conserved functional domains

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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia

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Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

1 reference

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Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency

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doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)

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21 June 2018

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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30 October 2018

Expansion of the ARX spectrum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819251

30 October 2018

Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819251

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1 reference

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1 reference

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1 reference

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819251

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819251

30 October 2018

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1 reference

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1 reference

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1 reference

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SHOXHaploinsufficiency and Leri-Weill Dyschondrosteosis: Prevalence and Growth Failure in Relation to Mutation, Sex, and Degree of Wrist Deformity

1 reference

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1 reference

https://pubmed.ncbi.nlm.nih.gov/20148114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20148114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20148114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Molecular genetic study of the PAX6 gene in aniridia patients]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20148114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/20148114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20148114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1755-8417-3-1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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