Somatic activation of AKT3 causes hemispheric developmental brain malformations (Q41773363)

9 October 2017

Somatic activation of AKT3 causes hemispheric developmental brain malformations (English)

1 reference

9 October 2017

Christopher A Walsh

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9 October 2017

Maria K Lehtinen

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9 October 2017

Anthony Hill

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Gilad D Evrony

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Annapurna Poduri

1 reference

9 October 2017

Erin L Heinzen

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9 October 2017

Xuyu Cai

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9 October 2017

Princess Christina Elhosary

1 reference

9 October 2017

Rameen Beroukhim

1 reference

9 October 2017

L Benjamin Hills

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9 October 2017

R Sean Hill

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9 October 2017

Brenda J Barry

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9 October 2017

Blaise F D Bourgeois

1 reference

9 October 2017

James J Riviello

1 reference

9 October 2017

A James Barkovich

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9 October 2017

Peter M Black

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9 October 2017

Keith L Ligon

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9 October 2017

language of work or name

English

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publication date

1 April 2012

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9 October 2017

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9 October 2017

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9 October 2017

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9 October 2017

41-48

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Spatio-temporal transcriptome of the human brain

9 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

An activating mutation of AKT2 and human hypoglycemia.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

A genotype resource for postmortem brain samples from the Autism Tissue Program

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Evolution of the mutation rate

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Rate, molecular spectrum, and consequences of human mutation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Profiling critical cancer gene mutations in clinical tumor samples

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

A novel AKT3 mutation in melanoma tumours and cell lines

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Role for Akt3/protein kinase Bgamma in attainment of normal brain size

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Detection of large-scale variation in the human genome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Mechanisms and consequences of somatic mosaicism in humans

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Rarity of AKT1 and AKT3 E17K mutations in squamous cell carcinoma of lung.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Surgery for catastrophic epilepsy in infants 6 months of age and younger

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Constitutional partial 1q trisomy mosaicism and Wilms tumor.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Hemimegalencephaly and tuberous sclerosis complex

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Hemimegalencephaly: part 2. Neuropathology suggests a disorder of cellular lineage

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Dysplasia: a common finding in intractable pediatric temporal lobe epilepsy

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

A comparison of cell phenotypes in hemimegalencephaly and tuberous sclerosis

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

The radiological features of hemimegalencephaly including three cases associated with proteus syndrome

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

Mosaic trisomy 1q: The longest surviving case

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3460551

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22500628

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Somatic mosaicism as a basic epileptogenic mechanism?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22500628

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEURON.2012.03.010

1 reference

9 October 2017

1 reference

9 October 2017

PubMed publication ID

22500628

1 reference