Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. - Wikidata - awgldk - TriplyDB

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

http://www.wikidata.org/entity/Q34339712

about

Zika Virus NS4A and NS4B Proteins Deregulate Akt-mTOR Signaling in Human Fetal Neural Stem Cells to Inhibit Neurogenesis and Induce Autophagy Cerebral cortex expansion and folding: what have we learned?Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations Overgrowth Syndromes.PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation Growth and folding of the mammalian cerebral cortex: from molecules to malformations The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research.Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".FoxO6 affects Plxna4-mediated neuronal migration during mouse cortical development.Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.Approach to the Diagnosis of Overgrowth Syndromes.The role of AKT isoforms in glioblastoma: AKT3 delays tumor progression.Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report.LUMBAR syndrome: A case manifesting as cutaneous infantile hemangiomas of the lower extremity, perineum and gluteal region, and a review of published work.Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.Diencephalic Size Is Restricted by a Novel Interplay Between GCN5 Acetyltransferase Activity and Retinoic Acid Signaling.Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.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.Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway.The histopathology of polymicrogyria: a series of 71 brain autopsy studies.Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.Vascular Anomalies: From a Clinicohistologic to a Genetic Framework.Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.Modeling Neurological Diseases With Human Brain Organoids.The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications

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Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

http://www.wikidata.org/entity/Q34339712

description

2013 nî lūn-bûn

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2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2013 թվականի ապրիլին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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name

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

@ast

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

@en

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

@nl

type

label

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

@ast

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

@en

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

@nl

prefLabel

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

@ast

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

@en

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

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Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

@en

P2093

Ghayda M Mirzaa

http://www.w3.org/2001/XMLSchema#string

Jean-Baptiste Rivière

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P2860

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

Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia

The phosphoinositide 3-kinase pathway

High frequency of mutations of the PIK3CA gene in human cancers

Aspirin use, tumor PIK3CA mutation, and colorectal-cancer survival

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

The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism

Targeting PI3K signalling in cancer: opportunities, challenges and limitations

Phosphoinositide kinases

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122-130

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10.1002/AJMG.C.31361

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2

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163C

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William B. Dobyns

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2013-04-16T00:00:00Z

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