Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation (Q33998564)

30 July 2017

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Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation (English)

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30 July 2017

31

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30 July 2017

32

Richard Wooster

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Sarah O'Meara

14

Sarah O'Meara

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Hayley Woffendin

4

Hayley Woffendin

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Sarah Edkins

9

Sarah Edkins

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Matthew Blow

Matthew Blow

3

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Marie Mangelsdorf

Marie Mangelsdorf

20

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P. Andrew Futreal

29

P Andrew Futreal

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30 July 2017

12

Uma Mallya

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30 July 2017

27

Douglas Easton

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30 July 2017

18

Jon Teague

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30 July 2017

30

Michael R Stratton

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30 July 2017

8

Helen Davies

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30 July 2017

1

Patrick Tarpey

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30 July 2017

2

Josep Parnau

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30 July 2017

Graham Bignell

5

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30 July 2017

Charles Cox

6

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30 July 2017

James Cox

7

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30 July 2017

Simon Holden

10

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30 July 2017

Angelique Korny

11

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30 July 2017

Jenny Moon

13

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30 July 2017

Adrian Parker

15

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30 July 2017

Philip Stephens

16

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30 July 2017

Claire Stevens

17

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30 July 2017

Andrew Donnelly

19

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30 July 2017

John Mulley

21

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30 July 2017

Michael Partington

22

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30 July 2017

Gillian Turner

23

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30 July 2017

Roger Stevenson

24

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30 July 2017

Charles Schwartz

25

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30 July 2017

Ian Young

26

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30 July 2017

Martin Bobrow

28

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30 July 2017

F Lucy Raymond

33

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30 July 2017

language of work or name

English

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publication date

7 June 2004

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American Journal of Human Genetics

30 July 2017

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30 July 2017

75

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2

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30 July 2017

318-324

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Synaptic plasticity and AMPA receptor trafficking

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Nonsyndromic X-linked mental retardation: where are the missing mutations?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

NMDA receptor trafficking through an interaction between PDZ proteins and the exocyst complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

AGTR2 mutations in X-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

A developmental change in NMDA receptor-associated proteins at hippocampal synapses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Interaction of NE-dlg/SAP102, a neuronal and endocrine tissue-specific membrane-associated guanylate kinase protein, with calmodulin and PSD-95/SAP90. A possible regulatory role in molecular clustering at synaptic sites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Enhanced long-term potentiation and impaired learning in mice with mutant postsynaptic density-95 protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

PAK3 mutation in nonsyndromic X-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Cloning and characterization of NE-dlg: a novel human homolog of the Drosophila discs large (dlg) tumor suppressor protein interacts with the APC protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

SAP102, a novel postsynaptic protein that interacts with NMDA receptor complexes in vivo

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Interaction of the N-methyl-D-aspartate receptor complex with a novel synapse-associated protein, SAP102

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Identification of the gene FMR2, associated with FRAXE mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

A synaptic model of memory: long-term potentiation in the hippocampus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

MECP2 is highly mutated in X-linked mental retardation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

MECP2 mutation in male patients with non-specific X-linked mental retardation.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

Molecular mechanisms of glutamate receptor clustering at excitatory synapses.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1216066

29 October 2018

Identifiers

DOI

10.1086/422703

1 reference

30 July 2017

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30 July 2017

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