(Q34718140)

4 August 2017

1 reference

title

Brain overgrowth in disorders of RTK-PI3K-AKT signaling: a mosaic of malformations (English)

1 reference

4 August 2017

Robert F Hevner

1

1 reference

4 August 2017

publication date

26 November 2014

1 reference

4 August 2017

published in

Seminars in Perinatology

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4 August 2017

volume

39

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4 August 2017

issue

1

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4 August 2017

page(s)

36-43

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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

4 August 2017

cites work

1 reference

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7 July 2018

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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

7 July 2018

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Somatic mutation, genomic variation, and neurological disease

7 July 2018

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Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders

7 July 2018

1 reference

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Detection of human papillomavirus in human focal cortical dysplasia type IIB.

7 July 2018

1 reference

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

7 July 2018

1 reference

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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

7 July 2018

1 reference

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Neurodevelopmental effects of insulin-like growth factor signaling

7 July 2018

1 reference

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Somatic activation of AKT3 causes hemispheric developmental brain malformations

7 July 2018

1 reference

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A mosaic activating mutation in AKT1 associated with the Proteus syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

The cerebrospinal fluid provides a proliferative niche for neural progenitor cells

7 July 2018

1 reference

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The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission

7 July 2018

1 reference

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Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis

7 July 2018

1 reference

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On Hypertrophy and Atrophy of the Brain.

7 July 2018

1 reference

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Targeting PI3K signalling in cancer: opportunities, challenges and limitations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Fibroblast growth factor signaling in development of the cerebral cortex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Expanding the mind: insulin-like growth factor I and brain development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

7 July 2018

Macrocephaly syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Reelin signals through phosphatidylinositol 3-kinase and Akt to control cortical development and through mTor to regulate dendritic growth.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Activation of Akt independent of PTEN and CTMP tumor-suppressor gene mutations in epilepsy-associated Taylor-type focal cortical dysplasias

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Insulin-like growth factor actions during development of neural stem cells and progenitors in the central nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Tuberous sclerosis complex and its founders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

PTEN mutation in a family with Cowden syndrome and autism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

The Proteus syndrome: CNS manifestations.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Identification and characterization of the tuberous sclerosis gene on chromosome 16

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Focal dysplasia of the cerebral cortex in epilepsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Tuberous sclerosis and the autistic syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

The central nervous system in the Apert syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

PI3K signalling: the path to discovery and understanding.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Contralateral hemimicrencephaly and clinical-pathological correlations in children with hemimegalencephaly

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268391

An unusual cerebral malformation associated with thanatophoric dwarfism

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25432429

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1053/J.SEMPERI.2014.10.006

1 reference

4 August 2017

1 reference

4 August 2017

1 reference