AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). (Q37585836)

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scientific article published on 12 June 2013

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English	AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).	scientific article published on 12 June 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). (English)

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Europe PubMed Central

PMC publication ID

21 August 2017

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intellectual disability

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basal ganglia disease

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disability affecting intellectual abilities

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based on heuristic

inferred from title

William B. Dobyns

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Europe PubMed Central

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21 August 2017

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Diana Zelenika

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21 August 2017

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Mark Lathrop

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Europe PubMed Central

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21 August 2017

Jean-Pierre Desvignes

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Jean-Pierre Desvignes

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Nicolas Lévy

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David H. Ledbetter

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object named as

David H Ledbetter

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Europe PubMed Central

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21 August 2017

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Marc Delepine

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Europe PubMed Central

21 August 2017

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author name string

Pierre Cacciagli

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Europe PubMed Central

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21 August 2017

Nadine Girard

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21 August 2017

Laurent Villard

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21 August 2017

language of work or name

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publication date

12 June 2013

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Europe PubMed Central

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21 August 2017

European Journal of Human Genetics

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Europe PubMed Central

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21 August 2017

22

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21 August 2017

3

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21 August 2017

363-368

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21 August 2017

Fragile X and X-linked intellectual disability: four decades of discovery

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

23 August 2017

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

23 August 2017

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause 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=3925263

23 August 2017

Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

23 August 2017

Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

23 August 2017

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

25 June 2018

X-linked mental retardation and-or hydrocephalus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

25 June 2018

New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

25 June 2018

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

1 September 2018

A de novo paradigm for mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

1 September 2018

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

1 September 2018

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

1 September 2018

Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

1 September 2018

Mechanism of interaction between leucine-based sorting signals from the invariant chain and clathrin-associated adaptor protein complexes AP1 and AP2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

1 September 2018

Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925263

1 September 2018

Identifiers

10.1038/EJHG.2013.135

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

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