(Q28975743)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures (English)

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

Kaptin, actin binding protein

1 March 2020

main subject

1 reference

GOA release 2020-03-11

author

Emma Baple

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Barry A Chioza

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Britta Qualmann

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

18

Michael M Kessels

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Reza Maroofian

2

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Maryam Izadi

4

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Saeed Al-Turki

6

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Katy Barwick

7

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Anna Skrzypiec

8

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Robert Pawlak

9

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Karin Wagner

10

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Roselyn Coblentz

11

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Tala Zainy

12

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Sahar Mansour

14

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Phillip Rich

15

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Harold E Cross

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Michael A Patton

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Matt E Hurles

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Andrew H Crosby

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

language of work or name

English

0 references

publication date

14 November 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

1 March 2020

published in

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

94

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

87-94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

1

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

1 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

PICK1 inhibition of the Arp2/3 complex controls dendritic spine size and synaptic plasticity

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

The actin-binding protein Abp1 controls dendritic spine morphology and is important for spine head and synapse formation

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

N-wasp and the arp2/3 complex are critical regulators of actin in the development of dendritic spines and synapses

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Cordon-bleu is an actin nucleation factor and controls neuronal morphology

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Erk/Src phosphorylation of cortactin acts as a switch on-switch off mechanism that controls its ability to activate N-WASP

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Linkage of the actin cytoskeleton to the postsynaptic density via direct interactions of Abp1 with the ProSAP/Shank family

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Drebrin-dependent actin clustering in dendritic filopodia governs synaptic targeting of postsynaptic density-95 and dendritic spine morphogenesis

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Cortactin localization to sites of actin assembly in lamellipodia requires interactions with F-actin and the Arp2/3 complex

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Autistic disturbances of affective contact

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Molecular mechanisms of dendritic spine morphogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Abp1 utilizes the Arp2/3 complex activator Scar/WAVE in bristle development.

9 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Rho GTPase signaling at the synapse: implications for intellectual disability.

9 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Disruption of Arp2/3 results in asymmetric structural plasticity of dendritic spines and progressive synaptic and behavioral abnormalities

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Macrocephaly as a clinical indicator of genetic subtypes in autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Dendritic spine abnormalities in mental retardation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Regulation of the postsynaptic cytoskeleton: roles in development, plasticity, and disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Controlling actin cytoskeletal organization and dynamics during neuronal morphogenesis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

The dynamic cytoskeleton: backbone of dendritic spine plasticity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Fine-tuning of neuronal architecture requires two profilin isoforms

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

COP9 limits dendritic branching via Cullin3-dependent degradation of the actin-crosslinking BTB-domain protein Kelch

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Characterization of oligophrenin-1, a RhoGAP lost in patients affected with mental retardation: lentiviral injection in organotypic brain slice cultures

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Regulation of N-WASP and the Arp2/3 complex by Abp1 controls neuronal morphology

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

A WAVE-1 and WRP signaling complex regulates spine density, synaptic plasticity, and memory

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Rab39, a novel Golgi-associated Rab GTPase from human dendritic cells involved in cellular endocytosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

EphB receptors regulate dendritic spine development via intersectin, Cdc42 and N-WASP.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Dendritic spines: structure, dynamics and regulation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Intracellular signaling pathways that regulate dendritic spine morphogenesis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

The actin nucleator Cobl is crucial for Purkinje cell development and works in close conjunction with the F-actin binding protein Abp1.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

Macrocephaly in children with developmental disabilities.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

26 November 2018

Autism and macrocephaly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882725

10.1016/J.AJHG.2013.10.001

26 November 2018

Identifiers

DOI

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24239382%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

2 references

21 March 2017