(Q41930624)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24556213%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype (English)

1 reference

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8 March 2020

21

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8 March 2020

Nicholas Katsanis

22

1 reference

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8 March 2020

Simona Coppola

4

1 reference

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8 March 2020

Emilia Stellacci

5

1 reference

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8 March 2020

Anna Bartoletti Stella

6

1 reference

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8 March 2020

Daniela Turchetti

7

1 reference

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8 March 2020

Giovanna Cenacchi

9

1 reference

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8 March 2020

Duccio M. Cordelli

11

1 reference

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8 March 2020

Laura Mazzanti

16

1 reference

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8 March 2020

Emilio Franzoni

18

1 reference

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8 March 2020

Marco Seri

23

1 reference

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8 March 2020

2

Tommaso Pippucci

1 reference

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8 March 2020

author name string

Pamela Magini

1

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8 March 2020

I-Chun Tsai

3

1 reference

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8 March 2020

Claudio Graziano

8

1 reference

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8 March 2020

Iria Neri

10

1 reference

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8 March 2020

Valentina Marchiani

12

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8 March 2020

Rosalba Bergamaschi

13

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8 March 2020

Giuseppe Gasparre

14

1 reference

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8 March 2020

Giovanni Neri

15

1 reference

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8 March 2020

Annalisa Patrizi

17

1 reference

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8 March 2020

Giovanni Romeo

19

1 reference

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8 March 2020

Domenico Bordo

20

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8 March 2020

publication date

19 February 2014

1 reference

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8 March 2020

published in

Human Molecular Genetics

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8 March 2020

volume

23

1 reference

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8 March 2020

issue

13

1 reference

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8 March 2020

page(s)

3607-3617

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24556213%20AND%20SRC:MED&resulttype=core&format=json

Genetics of intellectual disability

8 March 2020

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The genetic landscape of intellectual disability arising from chromosome X.

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X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

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Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

21 January 2018

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PAK3 mutation in nonsyndromic X-linked mental retardation

21 January 2018

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Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.

21 January 2018

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X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.

21 January 2018

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A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

21 January 2018

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21 January 2018

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Role of group A p21-activated kinases in activation of extracellular-regulated kinase by growth factors

21 January 2018

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PAK1 phosphorylation of MEK1 regulates fibronectin-stimulated MAPK activation

21 January 2018

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A new constitutively active brain PAK3 isoform displays modified specificities toward Rac and Cdc42 GTPases

21 January 2018

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The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus

21 January 2018

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Regulation of phosphorylation pathways by p21 GTPases. The p21 Ras-related Rho subfamily and its role in phosphorylation signalling pathways

21 January 2018

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The p21-activated kinase 3 implicated in mental retardation regulates spine morphogenesis through a Cdc42-dependent pathway.

21 January 2018

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Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3.

21 January 2018

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p21-Activated kinase 3 (PAK3) protein regulates synaptic transmission through its interaction with the Nck2/Grb4 protein adaptor

21 January 2018

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Group I p21-activated kinases facilitate Tax-mediated transcriptional activation of the human T-cell leukemia virus type 1 long terminal repeats.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Interaction with LC8 is required for Pak1 nuclear import and is indispensable for zebrafish development

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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