Mutations in GDI1 are responsible for X-linked non-specific mental retardation (Q34471146)

2 August 2017

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

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2 August 2017

P D'Adamo

1

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author name string

A Menegon

2

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2 August 2017

C Lo Nigro

3

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2 August 2017

M Grasso

4

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2 August 2017

M Gulisano

5

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2 August 2017

F Tamanini

6

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2 August 2017

T Bienvenu

7

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2 August 2017

A K Gedeon

8

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2 August 2017

B Oostra

9

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2 August 2017

S K Wu

10

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2 August 2017

A Tandon

11

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2 August 2017

F Valtorta

12

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2 August 2017

W E Balch

13

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2 August 2017

J Chelly

14

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2 August 2017

D Toniolo

15

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2 August 2017

language of work or name

English

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publication date

1 June 1998

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2 August 2017

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19

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2 August 2017

134-139

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2 August 2017

2

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https://scigraph.springernature.com/pub.10.1038/487

2 August 2017

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cites work

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

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Identification of the gene FMR2, associated with FRAXE mental retardation

21 January 2018

1 reference

Transcriptional organization of a 450-kb region of the human X chromosome in Xq28

21 January 2018

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Structural insights into the function of the Rab GDI superfamily

21 January 2018

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Rab GDP dissociation inhibitor: putting rab GTPases in the right place.

21 January 2018

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Rab proteins in regulated exocytosis

21 January 2018

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Rim is a putative Rab3 effector in regulating synaptic-vesicle fusion

21 January 2018

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The role of Rab3A in neurotransmitter release.

21 January 2018

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Rab3A small GTP-binding protein in Ca(2+)-dependent exocytosis

21 January 2018

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Better late than never: a role for rabs late in exocytosis

21 January 2018

1 reference

Function of Rab3 GDP-GTP exchange

21 January 2018

1 reference

Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI)

21 January 2018

1 reference

Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci

21 January 2018

1 reference

Structure and mutational analysis of Rab GDP-dissociation inhibitor

21 January 2018

1 reference

Protein prenyltransferases

21 January 2018

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The diversity of Rab proteins in vesicle transport

21 January 2018

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Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport

21 January 2018

1 reference

Rat hippocampal neurons in dispersed cell culture.

21 January 2018

1 reference

The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion

21 January 2018

1 reference

Rab3A is essential for mossy fibre long-term potentiation in the hippocampus.

21 January 2018

1 reference

Cloning of a gene that is rearranged in patients with choroideraemia

21 January 2018

1 reference

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

21 January 2018

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Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

21 January 2018

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Protocols for an improved detection of point mutations by SSCP

21 January 2018

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Emx1 and Emx2 show different patterns of expression during proliferation and differentiation of the developing cerebral cortex in the mouse.

21 January 2018

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Purification of His6-tagged Rab1 proteins using bacterial and insect cell expression systems

21 January 2018

1 reference

A small GTP-binding protein dissociates from synaptic vesicles during exocytosis.

21 January 2018

1 reference

Noradrenaline release from streptolysin O-permeated rat cortical synaptosomes: effects of calcium, phorbol esters, protein kinase inhibitors, and antibodies to the neuron-specific protein kinase C substrate B-50 (GAP-43).

21 January 2018

1 reference

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

21 January 2018

1 reference

Focal Adhesion Kinase in Rat Central Nervous System

21 January 2018

1 reference

Prevalence of fragile X syndrome

21 January 2018

1 reference

7 January 2021

inferred from DOI database lookup

How many X-linked genes for non-specific mental retardation (MRX) are there?

1 reference

7 January 2021

inferred from DOI database lookup

An electron microscopic study of the development of axons and dendrites by hippocampal neurons in culture. II. Synaptic relationships.

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/487

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release_7cb6mo5njjcrhgw6iqabz6ja4i

2 August 2017

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Fatcat

https://api.fatcat.wiki/v0/release/7cb6mo5njjcrhgw6iqabz6ja4i

24 November 2022

mapped directly with Wikidata item

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