Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report (Q89684195)

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scientific article published on 12 February 2020

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English	Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report	scientific article published on 12 February 2020

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

case report

0 references

title

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report (English)

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

main subject

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

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based on heuristic

inferred from title

author

Huijun Wang

series ordinal

6

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

author name string

Yanyan Qian

series ordinal

1

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

Bingbing Wu

series ordinal

2

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

Yulan Lu

series ordinal

3

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

Wenhao Zhou

series ordinal

4

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

Sujuan Wang

series ordinal

5

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

publication date

12 February 2020

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

published in

BMC Medical Genetics

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

volume

21

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

issue

1

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

page(s)

31

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stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

cites work

PAK3 mutation in nonsyndromic X-linked mental retardation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PAK3 related mental disability: further characterization of the phenotype

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetic basis of non-syndromic intellectual disability: a review

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large-scale discovery of novel genetic causes of developmental disorders

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The intellectual disability protein PAK3 regulates oligodendrocyte precursor cell differentiation.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Speech and language delay in a patient with WDR4 mutations.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/32050918

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1186/S12881-020-0957-X

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

PMC publication ID

7017536

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

PubMed publication ID

32050918

1 reference

stated in

Europe PubMed Central

PMC publication ID

7017536

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32050918%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 April 2020

 

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