(Q39880443)

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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

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Europe PubMed Central

PubMed publication ID

15 September 2017

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism (English)

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

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15

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Europe PubMed Central

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15 September 2017

Frédéric Laumonnier

object named as

F Laumonnier

1

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Cheryl Shoubridge

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C Shoubridge

2

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Martine Raynaud

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M Raynaud

16

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author name string

C Antar

3

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15 September 2017

L S Nguyen

4

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Europe PubMed Central

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15 September 2017

H Van Esch

5

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Europe PubMed Central

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15 September 2017

T Kleefstra

6

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15 September 2017

S Briault

7

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Europe PubMed Central

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15 September 2017

J P Fryns

8

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15 September 2017

B Hamel

9

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Europe PubMed Central

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15 September 2017

J Chelly

10

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15 September 2017

H H Ropers

11

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15 September 2017

N Ronce

12

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15 September 2017

S Blesson

13

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15 September 2017

C Moraine

14

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15 September 2017

language of work or name

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publication date

24 February 2009

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15 September 2017

Molecular Psychiatry

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15 September 2017

15

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15 September 2017

7

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15 September 2017

767-776

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15 September 2017

https://scigraph.springernature.com/pub.10.1038/mp.2009.14

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X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Evolution of the human X--a smart and sexy chromosome that controls speciation and development.

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

XLMR genes: update 2007.

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Molecular and comparative genetics of mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Genetics and pathophysiology of mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

The role of neuronal complexes in human X-linked brain diseases

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

A genecentric Human Protein Atlas for expression profiles based on antibodies

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

X-linked mental retardation: many genes for a complex disorder

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Genetics of intellectual disability

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

High-resolution genomic microarrays for X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Y14 and hUpf3b form an NMD-activating complex

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

The dynamics of X-inactivation skewing as women age.

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

The nonsense-mediated decay RNA surveillance pathway

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

An alternative branch of the nonsense-mediated decay pathway

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

21 January 2018

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

7 January 2021

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Glutamate receptors: brain function and signal transduction

1 reference

https://api.crossref.org/works/10.1038%2FMP.2009.14

7 January 2021

based on heuristic

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10.1038/MP.2009.14

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

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