(Q46337250)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28969385%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

title

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

1 reference

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31 March 2020

22

1 reference

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31 March 2020

Valerio Conti

26

1 reference

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31 March 2020

Mark O'Driscoll

32

1 reference

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31 March 2020

31

William B Dobyns

1 reference

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31 March 2020

27

Renzo Guerrini

1 reference

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31 March 2020

21

Gill Bejerano

1 reference

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31 March 2020

Chiara Pantaleoni

25

1 reference

ORCID Public Data File 2021

Oana Caluseriu

13

object named as

Oana Caluseriu

1 reference

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31 March 2020

3

Karen Gripp

1 reference

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31 March 2020

author name string

Diana Alcantara

1

1 reference

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31 March 2020

Andrew E Timms

2

1 reference

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31 March 2020

Laura Baker

4

1 reference

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31 March 2020

Kaylee Park

5

1 reference

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31 March 2020

Sarah Collins

6

1 reference

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31 March 2020

Chi Cheng

7

1 reference

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31 March 2020

Fiona Stewart

8

1 reference

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31 March 2020

Sarju G Mehta

9

1 reference

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31 March 2020

Anand Saggar

10

1 reference

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31 March 2020

László Sztriha

11

1 reference

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31 March 2020

Melinda Zombor

12

1 reference

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31 March 2020

Ronit Mesterman

14

1 reference

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31 March 2020

Margot I Van Allen

15

1 reference

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31 March 2020

Adeline Jacquinet

16

1 reference

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31 March 2020

Sofia Ygberg

17

1 reference

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31 March 2020

Jonathan A Bernstein

18

1 reference

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31 March 2020

Aaron M Wenger

19

1 reference

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31 March 2020

Harendra Guturu

20

1 reference

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31 March 2020

Anna Lehman

23

1 reference

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31 March 2020

Enrico Alfei

24

1 reference

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31 March 2020

Ute Moog

28

1 reference

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31 March 2020

John M Graham

29

1 reference

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31 March 2020

Robert Hevner

30

1 reference

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31 March 2020

Ghayda M Mirzaa

33

1 reference

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31 March 2020

language of work or name

English

0 references

publication date

1 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28969385%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28969385%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

volume

140

1 reference

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31 March 2020

issue

10

1 reference

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31 March 2020

page(s)

2610-2622

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28969385%20AND%20SRC:MED&resulttype=core&format=json

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

31 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

Somatic mutations in cerebral cortical malformations

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

Duplication of AKT3 is associated with macrocephaly and speech delay.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

Somatic activation of AKT3 causes hemispheric developmental brain malformations

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

A developmental and genetic classification for malformations of cortical development: update 2012

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

An activating mutation of AKT2 and human hypoglycemia.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

Biallelic TSC gene inactivation in tuberous sclerosis complex

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

A transforming mutation in the pleckstrin homology domain of AKT1 in cancer

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

Periventricular nodular heterotopia with overlying polymicrogyria

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

Physiological functions of protein kinase B/Akt

29 September 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

29 September 2018

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX203

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6080423

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

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28969385%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28969385%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

PubMed publication ID

28969385

1 reference