Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome (Q35769930)

10 August 2017

title

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome (English)

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10 August 2017

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10 August 2017

Enza Maria Valente

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Renato Borgatti

object named as

Renato Borgatti

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10 August 2017

Brett Copeland

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Romina Romaniello

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Susanne Roosing

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Tommaso Mazza

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Maha S Zaki

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Enrico Bertini

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Eugen Boltshauser

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10 August 2017

Stacey B Gabriel

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Joseph G Gleeson

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Isabella Moroni

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Kathryn J Swoboda

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Trey Ideker

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Matan Hofree

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Rose-Mary Boustany

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Jennifer L Silhavy

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Marta Romani

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Rasim O Rosti

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Jana Schroth

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10 August 2017

Elide Miccinilli

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10 August 2017

Matloob Azam

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10 August 2017

Franco Stanzial

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10 August 2017

Maja Steinlin

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Keith K Vaux

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10 August 2017

Sehyun Kim

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10 August 2017

Eric Scott

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Joanne Milisa-Drautz

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Mohamed A Mikati

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Faruk İncecik

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Carol L Clericuzio

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Stefano D'Arrigo

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10 August 2017

Petter Strømme

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10 August 2017

Marisol Mirabelli-Badenier

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10 August 2017

Francesco Emma

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10 August 2017

Friedhelm Hildebrandt

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10 August 2017

Colin A Johnson

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10 August 2017

Michael Freilinger

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10 August 2017

Pedro Aza-Blanc

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10 August 2017

Susanne Heynen-Genel

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10 August 2017

Brian D Dynlacht

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10 August 2017

Ji Eun Lee

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10 August 2017

Joon Kim

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10 August 2017

language of work or name

English

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publication date

30 May 2015

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full work available at URL

10 August 2017

http://eprints.whiterose.ac.uk/88333/

content deliverer

White Rose Research Online

object of statement has role

published version

Creative Commons Attribution 4.0 International

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https://doi.org/10.7554/eLife.06602

Creative Commons Attribution 4.0 International

object of statement has role

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10 August 2017

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10 August 2017

page(s)

e06602

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477441

10 August 2017

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Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors

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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

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Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant.

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Joubert syndrome and related disorders

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4477441

ATARiS: computational quantification of gene suppression phenotypes from multisample RNAi screens

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Calmodulin activation of Aurora-A kinase (AURKA) is required during ciliary disassembly and in mitosis

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1 reference

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Generation of mice with functional inactivation of talpid3, a gene first identified in chicken

12 July 2018

1 reference

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Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

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1 reference

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Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry

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Ciliopathies: an expanding disease spectrum

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12 July 2018

1 reference

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Cildb: a knowledgebase for centrosomes and cilia.

12 July 2018

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

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The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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Crossref

https://api.crossref.org/works/10.7554%2FELIFE.06602

21 January 2018

Identifiers

DOI

10.7554/ELIFE.06602

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Dimensions Publication ID

10 August 2017

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10 August 2017

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