The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation (Q24300345)

25 June 2017

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation (English)

1 reference

C2 domain containing 3 centriole elongation regulator

25 June 2017

1 reference

protein localization to centrosome

GOA release 2020-03-11

1 reference

C2 calcium-dependent domain containing 3

GOA release 2020-03-11

1 reference

oral-facial-digital syndrome

GOA release 2020-03-11

1 reference

25

0 references

Michel Vekemans

20

Michel Vekemans

1 reference

25 June 2017

23

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Laurence Faivre

27

Laurence Faivre

1 reference

25 June 2017

19

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André Mégarbané

28

André Mégarbané

1 reference

25 June 2017

6

Brunella Franco

1 reference

25 June 2017

Christel Thauvin-Robinet

1

Christel Thauvin-Robinet

1 reference

25 June 2017

15

Ange-Line Bruel

1 reference

25 June 2017

18

Caroline Alby

1 reference

25 June 2017

3

Estelle Lopez

1 reference

25 June 2017

Vicente Herranz-Pérez

Vicente Herranz-Pérez

4

0 references

Maxence V. Nachury

Maxence V Nachury

29

0 references

Laurent Pasquier

9

Laurent Pasquier

1 reference

25 June 2017

10

Philippe Loget

1 reference

25 June 2017

Jean-Baptiste Rivière

24

Jean-Baptiste Rivière

1 reference

José Manuel García Verdugo

25 June 2017

26

Jose Manuel Garcia-Verdugo

1 reference

25 June 2017

14

Judith St-Onge

1 reference

25 June 2017

Jaclyn S Lee

2

1 reference

25 June 2017

Toshinobu Shida

5

1 reference

25 June 2017

Laurence Jego

7

1 reference

25 June 2017

Fan Ye

8

1 reference

25 June 2017

Nadège Gigot

11

1 reference

25 June 2017

Bernard Aral

12

1 reference

25 June 2017

Carla A M Lopes

13

1 reference

25 June 2017

Julien Thevenon

16

1 reference

25 June 2017

Susana González-Granero

17

1 reference

25 June 2017

Frédéric Huet

21

1 reference

25 June 2017

Andrew M Fry

22

1 reference

25 June 2017

language of work or name

English

0 references

publication date

6 July 2014

1 reference

25 June 2017

1 reference

25 June 2017

46

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25 June 2017

8

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25 June 2017

905-911

1 reference

describes a project that uses

25 June 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4120243/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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1 reference

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Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment

19 March 2017

1 reference

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TCTN3 mutations cause Mohr-Majewski syndrome

19 March 2017

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The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia

19 March 2017

1 reference

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Ofd1, a human disease gene, regulates the length and distal structure of centrioles

19 March 2017

1 reference

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19 March 2017

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Cep97 and CP110 suppress a cilia assembly program

19 March 2017

1 reference

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Regulated HsSAS-6 levels ensure formation of a single procentriole per centriole during the centrosome duplication cycle

19 March 2017

1 reference

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Plk4-induced centriole biogenesis in human cells

19 March 2017

1 reference

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A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

19 March 2017

1 reference

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Assembly of centrosomal proteins and microtubule organization depends on PCM-1

19 March 2017

1 reference

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Centrin-2 is required for centriole duplication in mammalian cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Identification of the gene for oral-facial-digital type I syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

TrakEM2 software for neural circuit reconstruction

19 March 2017

1 reference

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Fiji: an open-source platform for biological-image analysis

19 March 2017

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

6 April 2017

1 reference

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A method and server for predicting damaging missense mutations

19 March 2017

1 reference

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C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Microtubule minus-end anchorage at centrosomal and non-centrosomal sites: the role of ninein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

C5orf42 is the major gene responsible for OFD syndrome type VI.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

An in vitro assay for entry into cilia reveals unique properties of the soluble diffusion barrier

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

CEP120 interacts with CPAP and positively regulates centriole elongation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

CEP120 and SPICE1 cooperate with CPAP in centriole elongation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Correlative light and electron microscopy (CLEM) as a tool to visualize microinjected molecules and their eukaryotic sub-cellular targets

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

27 September 2017

1 reference

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Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

CPAP is a cell-cycle regulated protein that controls centriole length

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Overly long centrioles and defective cell division upon excess of the SAS-4-related protein CPAP.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Control of centriole length by CPAP and CP110.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

hPOC5 is a centrin-binding protein required for assembly of full-length centrioles

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Centrosome biogenesis and function: centrosomics brings new understanding

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Enhancements and modifications of primer design program Primer3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Using genomewide mutagenesis screens to identify the genes required for neural tube closure in the mouse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

Analysis and classification of cerebellar malformations.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

HomozygosityMapper--an interactive approach to homozygosity mapping

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120243

The structure of the human centrin 2-xeroderma pigmentosum group C protein complex.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3031

Oral–facial–digital syndromes: Review and diagnostic guidelines

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3031

Centrosome organization and centriole architecture: their sensitivity to divalent cations

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24997988

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3031

1 reference

Dimensions Publication ID

25 June 2017

1002046417

0 references

OpenCitations bibliographic resource ID

2112194

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference