De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. (Q46039393)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29100089%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

title

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29100089%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

main subject

intellectual disability

1 reference

Calcium/calmodulin dependent protein kinase II alpha

PubMed

1 reference

Calcium/calmodulin dependent protein kinase II beta

1 reference

regulation of neuron migration

1 reference

Calcium/calmodulin-dependent protein kinase II, beta

1 reference

1 reference

12

1 reference

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8 April 2020

Katherine L Helbig

44

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8 April 2020

Sébastien Küry

1

1 reference

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8 April 2020

Thomas Besnard

3

1 reference

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8 April 2020

Martina Proietti Onori

4

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8 April 2020

Stephan J. Sanders

10

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Anne-Sophie Denommé-Pichon

8 April 2020

16

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8 April 2020

Jeff L Waugh

23

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8 April 2020

Marisa A Vineyard

45

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8 April 2020

Koen Van Gassen

48

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8 April 2020

Dominique Bonneau

68

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8 April 2020

Gabrielle Rudolf

72

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8 April 2020

Damien Sanlaville

73

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Brigitte Gilbert-Dussardier

8 April 2020

75

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8 April 2020

Annick Toutain

76

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8 April 2020

Marie Vincent

81

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8 April 2020

Andreas M. Grabrucker

82

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Ype Elgersma

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Undiagnosed Diseases Network

8 April 2020

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Undiagnosed Diseases Network

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Pierre Lindenbaum

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Jay Shendure

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8 April 2020

Meghan C Towne

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Richard Redon

Richard Redon

92

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Laurent Pasquier

Laurent Pasquier

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Evan E. Eichler

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Evan E Eichler

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Dorothy K Grange

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Jill A Rosenfeld

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Holly A F Stessman

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8 April 2020

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Bregje W M van Bon

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Jane Juusola

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Tjitske Kleefstra

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Slavé Petrovski

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Stéphane Bézieau

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Kimberly Foss

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8 April 2020

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Wallid Deb

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8 April 2020

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Gijs W E Santen

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8 April 2020

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Benjamin Cogné

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8 April 2020

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Claudia A L Ruivenkamp

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Claudia A L Ruivenkamp

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8 April 2020

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Xénia Latypova

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Arie van Haeringen

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Geeske M van Woerden

2

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8 April 2020

Megan T Cho

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8 April 2020

Trine E Prescott

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Melissa A Ploeg

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8 April 2020

Ben Distel

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8 April 2020

Laurie A Robak

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Jonathan A Bernstein

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8 April 2020

Gaëtan Lesca

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8 April 2020

Elizabeth A Sellars

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8 April 2020

Jonathan Berg

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Wilfrid Carré

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Øyvind Løvold Busk

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George E Hoganson

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8 April 2020

Katherine B Bosanko

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8 April 2020

Diana S Johnson

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8 April 2020

Tabib Dabir

28

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8 April 2020

Øystein Lunde Holla

29

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Ajoy Sarkar

30

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8 April 2020

Kristian Tveten

31

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Julitta de Bellescize

32

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Geir J Braathen

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Paulien A Terhal

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8 April 2020

Christina Lam

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Ghayda Mirzaa

38

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Jennifer Burton

39

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8 April 2020

Elizabeth J Bhoj

40

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8 April 2020

Jessica Douglas

41

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Avni B Santani

42

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Addie I Nesbitt

43

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Amber Begtrup

46

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8 April 2020

Sha Tang

47

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8 April 2020

Gregory M Enns

51

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8 April 2020

Ute Moog

52

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8 April 2020

Katrin Hinderhofer

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8 April 2020

Nagarajan Paramasivam

54

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8 April 2020

Sharyn Lincoln

55

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8 April 2020

Brandon H Kusako

56

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8 April 2020

Eric Charpentier

58

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8 April 2020

Catherine B Nowak

59

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Elouan Cherot

60

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8 April 2020

Thomas Simonet

61

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8 April 2020

Sihoun Hahn

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Catherine A Brownstein

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8 April 2020

Fan Xia

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Sébastien Schmitt

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Mathilde Nizon

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Delphine Quinquis

70

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8 April 2020

Jamel Chelly

71

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8 April 2020

Philippe Parent

74

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8 April 2020

Vernon R Sutton

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Jenny Thies

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8 April 2020

Lisenka E L M Peart-Vissers

79

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Pierre Boisseau

80

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8 April 2020

Christèle Dubourg

83

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Wen-Hann Tan

85

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Nienke E Verbeek

86

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8 April 2020

Martin Granzow

87

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Bertrand Isidor

90

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8 April 2020

Yaping Yang

93

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8 April 2020

Matthew W State

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GEM HUGO

97

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Kyle Retterer

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Pankaj B Agrawal

103

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Sylvie Odent

105

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Sandra Mercier

107

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8 April 2020

Deciphering Developmental Disorders Study

98

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language of work or name

English

0 references

publication date

1 November 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29100089%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

8 April 2020

published in

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volume

101

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issue

5

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page(s)

768-788

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describes a project that uses

8 April 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5673671/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

on focus list of Wikimedia project

ScienceSource

0 references

cites work

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Calmodulin kinases: essential regulators in health and disease

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Prevalence and architecture of de novo mutations in developmental disorders

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

The CaMKII/GluN2B Protein Interaction Maintains Synaptic Strength

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

The molecular, temporal and region-specific requirements of the beta isoform of Calcium/Calmodulin-dependent protein kinase type 2 (CAMK2B) in mouse locomotion.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Interplay of enzymatic and structural functions of CaMKII in long-term potentiation.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Clinical application of whole-exome sequencing across clinical indications

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

The role of GRIN2B in Tourette syndrome: Results from a transmission disequilibrium study

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Association Study of N-Methyl-D-Aspartate Receptor Subunit 2B (GRIN2B) Polymorphisms and Schizophrenia Symptoms in the Han Chinese Population

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Rare variants in neuronal excitability genes influence risk for bipolar disorder

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Association of genetic variants of GRIN2B with autism

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

The contribution of de novo coding mutations to autism spectrum disorder

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

What causes aberrant salience in schizophrenia? A role for impaired short-term habituation and the GRIA1 (GluA1) AMPA receptor subunit.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Temporal and region-specific requirements of αCaMKII in spatial and contextual learning.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Generation and behavior characterization of CaMKIIβ knockout mice

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Translational control in synaptic plasticity and cognitive dysfunction

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

The NMDA receptor complex: a multifunctional machine at the glutamatergic synapse

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

CaMKII: claiming center stage in postsynaptic function and organization

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Synaptic plasticity in health and disease: introduction and overview

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Calcium-calmodulin-dependent protein kinase II isoforms differentially impact the dynamics and structure of the actin cytoskeleton

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Mechanisms of CaMKII action in long-term potentiation

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

In utero electroporation as a tool for genetic manipulation in vivo to study psychiatric disorders: from genes to circuits and behaviors

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Glutamate receptor ion channels: structure, regulation, and function

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Allosteric modulators of NR2B-containing NMDA receptors: molecular mechanisms and therapeutic potential

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

betaCaMKII controls the direction of plasticity at parallel fiber-Purkinje cell synapses

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

I-TASSER server for protein 3D structure prediction

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

NMDA receptor trafficking in synaptic plasticity and neuropsychiatric disorders

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Targeting of calcium/calmodulin-dependent protein kinase II.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

The molecular basis of CaMKII function in synaptic and behavioural memory

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Dynamic control of CaMKII translocation and localization in hippocampal neurons by NMDA receptor stimulation

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

CaMKIIbeta functions as an F-actin targeting module that localizes CaMKIIalpha/beta heterooligomers to dendritic spines

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Autophosphorylation at Thr286 of the alpha calcium-calmodulin kinase II in LTP and learning

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Control of memory formation through regulated expression of a CaMKII transgene

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

CaMKII regulates the frequency-response function of hippocampal synapses for the production of both LTD and LTP

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Regional distribution of type II Ca2+/calmodulin-dependent protein kinase in rat brain

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Deficient hippocampal long-term potentiation in alpha-calcium-calmodulin kinase II mutant mice

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Impaired spatial learning in alpha-calcium-calmodulin kinase II mutant mice

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Functional determinants in the autoinhibitory domain of calcium/calmodulin-dependent protein kinase II. Role of His282 and multiple basic residues

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Interpreting de novo Variation in Human Disease Using denovolyzeR.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Large-scale discovery of novel genetic causes of developmental disorders

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

The role of GluA1 in central nervous system disorders

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Diagnostic exome sequencing in persons with severe intellectual disability

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

βCaMKII plays a nonenzymatic role in hippocampal synaptic plasticity and learning by targeting αCaMKII to synapses.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Kinase-dead knock-in mouse reveals an essential role of kinase activity of Ca2+/calmodulin-dependent protein kinase IIalpha in dendritic spine enlargement, long-term potentiation, and learning.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Inhibitory autophosphorylation of CaMKII controls PSD association, plasticity, and learning.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Efficient in utero gene transfer system to the developing mouse brain using electroporation: visualization of neuronal migration in the developing cortex.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Developmental expression of the CaM kinase II isoforms: ubiquitous gamma- and delta-CaM kinase II are the early isoforms and most abundant in the developing nervous system.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Abnormal fear response and aggressive behavior in mutant mice deficient for alpha-calcium-calmodulin kinase II.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Clinical exome sequencing – Norwegian findings

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5673671

Efficient gene transfer into the embryonic mouse brain using in vivo electroporation

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29100089

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2017.10.003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29100089%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29100089%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

1 reference