Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans (Q23778306)

GOA release 2020-03-11

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9

Kaya Bilguvar

Kaya

Bilguvar

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7 February 2023

Stephan J Sanders

8

Stephan J

Sanders

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7 February 2023

Marina Picciotto

16

Marina

Picciotto

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7 February 2023

15

Elena Grigorenko

Elena

Grigorenko

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7 February 2023

author name string

A Gulhan Ercan-Sencicek

1

A Gulhan

Ercan-Sencicek

1 reference

7 February 2023

Samira Jambi

2

Samira

Jambi

1 reference

7 February 2023

Daniel Franjic

3

Daniel

Franjic

1 reference

7 February 2023

Sayoko Nishimura

4

Sayoko

Nishimura

1 reference

7 February 2023

Mingfeng Li

5

Mingfeng

Li

1 reference

7 February 2023

Paul El-Fishawy

6

Paul

El-Fishawy

1 reference

7 February 2023

Thomas M Morgan

7

Thomas M

Morgan

1 reference

7 February 2023

Mohnish Suri

10

Mohnish

Suri

1 reference

7 February 2023

Michele H Johnson

11

Michele H

Johnson

1 reference

7 February 2023

Abha R Gupta

12

Abha R

Gupta

1 reference

7 February 2023

Zafer Yuksel

13

Zafer

Yuksel

1 reference

7 February 2023

Shrikant Mane

14

Shrikant

Mane

1 reference

7 February 2023

Arthur S Alberts

17

Arthur S

Alberts

1 reference

7 February 2023

Murat Gunel

18

Murat

Gunel

1 reference

7 February 2023

Nenad Šestan

19

Nenad

Šestan

1 reference

7 February 2023

Matthew W State

20

Matthew W

State

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European Journal of Human Genetics

7 February 2023

language of work or name

English

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publication date

February 2015

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published in

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volume

23

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page(s)

165-172

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issue

2

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describes a project that uses

Cytoscape

1 reference

Europe PubMed Central

9 June 2022

https://europepmc.org/search?query=(METHODS:'Cytoscape')

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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WDR62 is associated with the spindle pole and is mutated in human microcephaly

19 March 2017

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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

19 March 2017

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

19 March 2017

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Interaction of CDK5RAP2 with EB1 to track growing microtubule tips and to regulate microtubule dynamics

19 March 2017

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

19 March 2017

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Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

19 March 2017

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Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

19 March 2017

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19 March 2017

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MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway

19 March 2017

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Evolution of the neocortex: a perspective from developmental biology

19 March 2017

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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

19 March 2017

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Disruption of the Diaphanous-related formin Drf1 gene encoding mDia1 reveals a role for Drf3 as an effector for Cdc42

19 March 2017

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Localization of a mammalian homolog of diaphanous, mDia1, to the mitotic spindle in HeLa cells

19 March 2017

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Embracing covariation in brain evolution: large brains, extended development, and flexible primate social systems

19 March 2017

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Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline

19 March 2017

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Cdk5rap2 interacts with pericentrin to maintain the neural progenitor pool in the developing neocortex

19 March 2017

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Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

19 March 2017

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The mouse Formin mDia1 is a potent actin nucleation factor regulated by autoinhibition

19 March 2017

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19 March 2017

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Spatio-temporal transcriptome of the human brain

7 April 2017

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A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

7 April 2017

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Self-organization and interareal networks in the primate cortex

27 September 2017

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Deficiency of mDia, an actin nucleator, disrupts integrity of neuroepithelium and causes periventricular dysplasia.

27 September 2017

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Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

27 September 2017

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Cortical actin dynamics facilitate early-stage centrosome separation

27 September 2017

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Primary microcephaly: do all roads lead to Rome?

27 September 2017

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5q- myelodysplastic syndromes: chromosome 5q genes direct a tumor-suppression network sensing actin dynamics.

27 September 2017

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Memo-RhoA-mDia1 signaling controls microtubules, the actin network, and adhesion site formation in migrating cells

27 September 2017

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Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

27 September 2017

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27 September 2017

Microcephaly syndromes

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EB1 and APC bind to mDia to stabilize microtubules downstream of Rho and promote cell migration

27 September 2017

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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

27 September 2017

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Protein-truncating mutations in ASPM cause variable reduction in brain size

30 May 2018

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A role for mDia, a Rho-regulated actin nucleator, in tangential migration of interneuron precursors.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.82

Cell biology: Tubulin acetylation and cell motility

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.82

21 January 2018

Identifiers

DOI

10.1038/EJHG.2014.82

1 reference

3133157

0 references

3133157

1 reference

1 reference

1 reference