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

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

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

http://www.wikidata.org/entity/Q30300538

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Somatic mutations in disorders with disrupted brain connectivity The PI3K signaling pathway as a pharmacological target in Autism related disorders and Schizophrenia.Ribosomal Protein S6 Phosphorylation in the Nervous System: From Regulation to Function Convulsive seizures from experimental focal cortical dysplasia occur independently of cell misplacement.Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.Towards in vivo focal cortical dysplasia phenotyping using quantitative MRI.Brain overgrowth in disorders of RTK-PI3K-AKT signaling: a mosaic of malformations.The enlarging spectrum of focal cortical dysplasias Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.The tumor suppressor PTEN and the PDK1 kinase regulate formation of the columnar neural epithelium Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.2014 Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.When Should Genetic Testing Be Performed in Epilepsy Patients?Brain Development and Akt Signaling: the Crossroads of Signaling Pathway and Neurodevelopmental Diseases.Induced pluripotent stem cells from patients with focal cortical dysplasia and refractory epilepsy.Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder?PI3K/AKT Pathway and Brain Malformations.Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.Review: Roles for astrocytes in epilepsy: insights from malformations of cortical development.Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).Impaired oligodendroglial turnover is associated with myelin pathology in focal cortical dysplasia and tuberous sclerosis complex.De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.Rapamycin prevents, but does not reverse, aberrant migration in Pten knockout neurons.Sending Mixed Signals: The Expanding Role of Molecular Cascade Mutations in Malformations of Cortical Development and Epilepsy.Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.PTEN deletion increases hippocampal granule cell excitability in male and female mice.P85 regulates neuronal migration through affecting neuronal morphology during mouse corticogenesis.Mechanistic target of rapamycin complex 1 and 2 in human temporal lobe epilepsy.A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway.From peroxisomal disorders to common neurodegenerative diseases - the role of ether phospholipids in the nervous system.Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).Noninflammatory Changes of Microglia Are Sufficient to Cause Epilepsy.

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

http://www.wikidata.org/entity/Q30300538

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2015 nî lūn-bûn

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2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2015 թվականի փետրվարին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

PI3K/AKT pathway mutations cau ...... ly to focal cortical dysplasia

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PI3K/AKT pathway mutations cau ...... ly to focal cortical dysplasia

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type

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PI3K/AKT pathway mutations cau ...... ly to focal cortical dysplasia

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PI3K/AKT pathway mutations cau ...... ly to focal cortical dysplasia

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prefLabel

PI3K/AKT pathway mutations cau ...... ly to focal cortical dysplasia

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PI3K/AKT pathway mutations cau ...... ly to focal cortical dysplasia

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PI3K/AKT pathway mutations cau ...... ly to focal cortical dysplasia

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Carissa Adams

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Ghayda M Mirzaa

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Gisele E Ishak

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Jean-Baptiste Rivière

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Jeffrey G Ojemann

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Joseph B Hiatt

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Judith St-Onge

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Laura A Jansen

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Robert F Hevner

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Sarah Collins

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Mechanism of activation of protein kinase B by insulin and IGF-1

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

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

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

AKT/PKB signaling: navigating downstream

Spatiotemporal characterization of mTOR kinase activity following kainic acid induced status epilepticus and analysis of rat brain response to chronic rapamycin treatment

High frequency of mutations of the PIK3CA gene in human cancers

PTEN: one gene, many syndromes

Mechanisms and consequences of somatic mosaicism in humans

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

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1613-1628

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scholarly article

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10.1093/BRAIN/AWV045

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Pt 6

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138

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William B. Dobyns

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2015-02-25T00:00:00Z

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25722288

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4614119

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