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

10 August 2017

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

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Enza Maria Valente

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Renato Borgatti

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Renato Borgatti

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Brett Copeland

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Romina Romaniello

Romina Romaniello

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Susanne Roosing

Susanne Roosing

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Tommaso Mazza

Tommaso Mazza

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Maha Zaki

Maha S Zaki

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Enrico Bertini

Enrico Bertini

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Eugen Boltshauser

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Eugen Boltshauser

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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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Elide Miccinilli

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Matloob Azam

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Franco Stanzial

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Maja Steinlin

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Keith K Vaux

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Sehyun Kim

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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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Petter Strømme

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Marisol Mirabelli-Badenier

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Francesco Emma

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Friedhelm Hildebrandt

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Colin A Johnson

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Michael Freilinger

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Pedro Aza-Blanc

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10 August 2017

Susanne Heynen-Genel

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Brian D Dynlacht

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Ji Eun Lee

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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 has role

published version

copyright license

Creative Commons Attribution 4.0 International

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

copyright license

Creative Commons Attribution 4.0 International

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10 August 2017

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10 August 2017

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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Systematic Discovery of Human Gene Function and Principles of Modular Organization through Phylogenetic Profiling

12 July 2018

1 reference

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

Remodeling Cildb, a popular database for cilia and links for ciliopathies

12 July 2018

1 reference

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

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

12 July 2018

1 reference

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

Mutation of POC1B in a severe syndromic retinal ciliopathy

12 July 2018

1 reference

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

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

12 July 2018

1 reference

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

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

12 July 2018

1 reference

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

A general framework for estimating the relative pathogenicity of human genetic variants

12 July 2018

1 reference

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

The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly

12 July 2018

1 reference

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

Mutations in CSPP1 lead to classical Joubert syndrome

12 July 2018

1 reference

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

Discovering regulators of centriole biogenesis through siRNA-based functional genomics in human cells

12 July 2018

1 reference

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

The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium

12 July 2018

1 reference

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

The Genotype-Tissue Expression (GTEx) project

12 July 2018

1 reference

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

Joubert syndrome and related disorders

12 July 2018

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

12 July 2018

1 reference

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

HMDB 3.0--The Human Metabolome Database in 2013

12 July 2018

1 reference

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

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

12 July 2018

1 reference

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

Exome sequencing can improve diagnosis and alter patient management

12 July 2018

1 reference

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

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

12 July 2018

1 reference

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

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

12 July 2018

1 reference

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

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

12 July 2018

1 reference

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

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

12 July 2018

1 reference

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

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

12 July 2018

1 reference

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

Genome-wide RNAi screen reveals disease-associated genes that are common to Hedgehog and Wnt signaling.

12 July 2018

1 reference

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

Ciliopathies: an expanding disease spectrum

12 July 2018

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

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

12 July 2018

1 reference

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

Cildb: a knowledgebase for centrosomes and cilia.

12 July 2018

1 reference

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

The primary cilium: a signalling centre during vertebrate development

12 July 2018

1 reference

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

Functional genomic screen for modulators of ciliogenesis and cilium length

12 July 2018

1 reference

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

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

12 July 2018

1 reference

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

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

12 July 2018

1 reference

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

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

12 July 2018

1 reference

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

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

12 July 2018

1 reference

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

Kinome siRNA screen identifies regulators of ciliogenesis and hedgehog signal transduction

12 July 2018

1 reference

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

Visualizing spatiotemporal dynamics of multicellular cell-cycle progression

12 July 2018

1 reference

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

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

12 July 2018

1 reference

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

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

12 July 2018

1 reference

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

Distribution and intensity of constraint in mammalian genomic sequence

12 July 2018

1 reference

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

Statistics review 10: further nonparametric methods

12 July 2018

1 reference

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

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

12 July 2018

1 reference

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

The crooked neck gene of Drosophila contains a motif found in a family of yeast cell cycle genes.

12 July 2018

1 reference

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

Identifying Important Risk Factors for Survival in Kidney Graft Failure Patients Using Random Survival Forests

12 July 2018

1 reference

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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