Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder (Q57023907)

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scientific article published on 01 October 2018

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English	Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder	scientific article published on 01 October 2018

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instance of

scholarly article

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Europe PubMed Central

PMC publication ID

6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 April 2020

title

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder (English)

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stated in

Europe PubMed Central

PMC publication ID

6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

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26 April 2020

main subject

neurodevelopmental disorder

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author

Davor Lessel

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6

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Europe PubMed Central

PMC publication ID

6174322

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26 April 2020

author name string

Frederike L Harms

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1

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Europe PubMed Central

PMC publication ID

6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

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26 April 2020

Katja Kloth

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2

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PMC publication ID

6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

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26 April 2020

Annette Bley

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3

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6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

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26 April 2020

Jonas Denecke

series ordinal

4

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PMC publication ID

6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

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26 April 2020

René Santer

series ordinal

5

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PMC publication ID

6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

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26 April 2020

Maja Hempel

series ordinal

7

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Europe PubMed Central

PMC publication ID

6174322

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26 April 2020

Kerstin Kutsche

series ordinal

8

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Europe PubMed Central

PMC publication ID

6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

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26 April 2020

language of work or name

English

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publication date

1 October 2018

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Europe PubMed Central

PMC publication ID

6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

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26 April 2020

published in

American Journal of Human Genetics

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Europe PubMed Central

PMC publication ID

6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

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26 April 2020

volume

103

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Europe PubMed Central

PMC publication ID

6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

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26 April 2020

issue

4

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Europe PubMed Central

PMC publication ID

6174322

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

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26 April 2020

page(s)

579-591

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6174322

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26 April 2020

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Pak1 kinase homodimers are autoinhibited in trans and dissociated upon activation by Cdc42 and Rac1

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Crystal structure of the TAO2 kinase domain: activation and specificity of a Ste20p MAP3K

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A GIT1/PIX/Rac/PAK signaling module regulates spine morphogenesis and synapse formation through MLC

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The active conformation of the PAK1 kinase domain

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Dissecting activation of the PAK1 kinase at protrusions in living cells

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The p21-activated kinase PAK3 forms heterodimers with PAK1 in brain implementing trans-regulation of PAK3 activity

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

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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

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A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

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P21 activated kinase signaling in cancer

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Identifiers

DOI

10.1016/J.AJHG.2018.09.005

1 reference

stated in

Europe PubMed Central

PMC publication ID

6174322

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 April 2020

PMC publication ID

6174322

1 reference

stated in

Europe PubMed Central

PMC publication ID

6174322

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 April 2020

PubMed publication ID

30290153

1 reference

stated in

Europe PubMed Central

PMC publication ID

6174322

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30290153%20AND%20SRC:MED&resulttype=core&format=json

retrieved

26 April 2020

 

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