(Q34413824)

2 August 2017

title

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

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2 August 2017

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7

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33

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Jeremy Schwartzentruber

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Jeremy Schwartzentruber

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David T. Bonthron

15

David T Bonthron

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David Parry

David A Parry

2

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Rebecca D Hodge

13

Rebecca D Hodge

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28

Jacek Majewski

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29

FORGE Canada Consortium

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20

Karen W Gripp

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2 August 2017

Ghayda Mirzaa

1

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2 August 2017

Andrew E Fry

3

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2 August 2017

Kristin A Giamanco

4

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2 August 2017

Megan Vanstone

6

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2 August 2017

Nicola Roberts

8

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2 August 2017

Colin A Johnson

9

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Shawn Singh

10

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Stanislav S Kholmanskikh

11

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Carissa Adams

12

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Robert F Hevner

14

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2 August 2017

Kees P J Braun

16

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2 August 2017

Laurence Faivre

17

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2 August 2017

Jean-Baptiste Rivière

18

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2 August 2017

Judith St-Onge

19

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2 August 2017

Grazia Ms Mancini

21

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2 August 2017

Ki Pang

22

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2 August 2017

Elizabeth Sweeney

23

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2 August 2017

Hilde van Esch

24

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2 August 2017

Nienke Verbeek

25

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2 August 2017

Dagmar Wieczorek

26

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2 August 2017

Michelle Steinraths

27

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2 August 2017

Kym M Boycot

30

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2 August 2017

Daniela T Pilz

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2 August 2017

M Elizabeth Ross

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2 August 2017

Eamonn G Sheridan

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2 August 2017

language of work or name

English

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publication date

6 April 2014

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full work available at URL

2 August 2017

http://eprints.whiterose.ac.uk/98105/

content deliverer

White Rose Research Online

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published in

Nature Genetics

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2 August 2017

volume

46

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2 August 2017

issue

5

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2 August 2017

page(s)

510-515

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Regulation of cerebral cortex size and folding by expansion of basal progenitors

2 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

NIH Image to ImageJ: 25 years of image analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

Somatic activation of AKT3 causes hemispheric developmental brain malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

The Sequence Alignment/Map format and SAMtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

Development of the human cerebral cortex: Boulder Committee revisited

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

Role of intermediate progenitor cells in cerebral cortex development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

Selective cortical interneuron and GABA deficits in cyclin D2-null mice.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

Differences in cyclin D2 and D1 protein expression distinguish forebrain progenitor subsets

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

Transcription factors in glutamatergic neurogenesis: conserved programs in neocortex, cerebellum, and adult hippocampus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

6 July 2018

The renaissance of GSK3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2948

Cerebellar histogenesis is disturbed in mice lacking cyclin D2.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004933

27 October 2018

Identifiers

DOI

10.1038/NG.2948

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Dimensions Publication ID

2 August 2017

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2 August 2017

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