Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. (Q46337250)

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31 March 2020

title

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly (English)

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Valerio Conti

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Mark O'Driscoll

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William B Dobyns

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Renzo Guerrini

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Gill Bejerano

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Chiara Pantaleoni

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ORCID Public Data File 2021

Oana Caluseriu

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object named as

Oana Caluseriu

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3

Karen Gripp

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28

Ute Moog

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author name string

Diana Alcantara

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Andrew E Timms

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Laura Baker

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Kaylee Park

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Sarah Collins

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Chi Cheng

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Fiona Stewart

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Sarju G Mehta

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Anand Saggar

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László Sztriha

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Melinda Zombor

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Ronit Mesterman

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Margot I Van Allen

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Adeline Jacquinet

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Sofia Ygberg

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Jonathan A Bernstein

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Aaron M Wenger

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Harendra Guturu

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Anna Lehman

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Enrico Alfei

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John M Graham

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Robert Hevner

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Ghayda M Mirzaa

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language of work or name

English

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publication date

1 October 2017

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31 March 2020

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volume

140

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issue

10

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page(s)

2610-2622

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A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

31 March 2020

cites work

1 reference

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A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

29 September 2018

1 reference

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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

29 September 2018

1 reference

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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

29 September 2018

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Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature

29 September 2018

1 reference

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An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

29 September 2018

1 reference

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MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

29 September 2018

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

29 September 2018

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Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

29 September 2018

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Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.

29 September 2018

1 reference

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Somatic mutations in cerebral cortical malformations

29 September 2018

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Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.

29 September 2018

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Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology

29 September 2018

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Duplication of AKT3 is associated with macrocephaly and speech delay.

29 September 2018

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Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia.

29 September 2018

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Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.

29 September 2018

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AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

29 September 2018

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

29 September 2018

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Disruption of PH-kinase domain interactions leads to oncogenic activation of AKT in human cancers

29 September 2018

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

29 September 2018

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

29 September 2018

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29 September 2018

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29 September 2018

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Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

29 September 2018

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29 September 2018

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29 September 2018

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29 September 2018

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29 September 2018

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29 September 2018

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Comprehensive identification of PIP3-regulated PH domains from C. elegans to H. sapiens by model prediction and live imaging

29 September 2018

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29 September 2018

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Periventricular nodular heterotopia with overlying polymicrogyria

29 September 2018

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Physiological functions of protein kinase B/Akt

29 September 2018

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29 September 2018

https://api.crossref.org/works/10.1093/BRAIN/AWX203

Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB beta)

21 January 2018

1 reference

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Sudden death caused by pulmonary thromboembolism in Proteus syndrome

29 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28969385

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWX203

1 reference

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31 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28969385 AND SRC:MED&resulttype=core&format=json

31 March 2020

PubMed publication ID

28969385

1 reference