Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
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Title
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Authors
Keywords
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Journal
eLife
Volume 4, Issue -, Pages -
Publisher
eLife Sciences Organisation, Ltd.
Online
2015-05-30
DOI
10.7554/elife.06602
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Note: Only part of the references are listed.- Systematic Discovery of Human Gene Function and Principles of Modular Organization through Phylogenetic Profiling
- (2015) Gautam Dey et al. Cell Reports
- Cilia and Diseases
- (2014) Jason M. Brown et al. BIOSCIENCE
- Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy
- (2014) Bodo B. Beck et al. HUMAN MUTATION
- The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly
- (2014) Tetsuo Kobayashi et al. JOURNAL OF CELL BIOLOGY
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
- (2014) Marta Romani et al. Orphanet Journal of Rare Diseases
- Talpid3-Binding Centrosomal Protein Cep120 Is Required for Centriole Duplication and Proliferation of Cerebellar Granule Neuron Progenitors
- (2014) Chuanqing Wu et al. PLoS One
- Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in thetalpid3ciliopathy mutant
- (2014) Megan G Davey et al. Organogenesis
- Mutations in CSPP1 Lead to Classical Joubert Syndrome
- (2013) Naiara Akizu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Discovering Regulators of Centriole Biogenesis through siRNA-Based Functional Genomics in Human Cells
- (2013) Fernando R. Balestra et al. DEVELOPMENTAL CELL
- The Genotype-Tissue Expression (GTEx) project
- (2013) John Lonsdale et al. NATURE GENETICS
- Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
- (2012) Menachem Fromer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- ATARiS: Computational quantification of gene suppression phenotypes from multisample RNAi screens
- (2012) D. D. Shao et al. GENOME RESEARCH
- Calmodulin activation of Aurora-A kinase (AURKA) is required during ciliary disassembly and in mitosis
- (2012) Olga V. Plotnikova et al. MOLECULAR BIOLOGY OF THE CELL
- HMDB 3.0—The Human Metabolome Database in 2013
- (2012) David S. Wishart et al. NUCLEIC ACIDS RESEARCH
- Exome Sequencing Can Improve Diagnosis and Alter Patient Management
- (2012) T. J. Dixon-Salazar et al. Science Translational Medicine
- Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
- (2011) Liyun Sang et al. CELL
- Generation of mice with functional inactivation of talpid3, a gene first identified in chicken
- (2011) F. Bangs et al. DEVELOPMENT
- Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry
- (2011) Sehyun Kim et al. NATURE CELL BIOLOGY
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Ciliopathies: an expanding disease spectrum
- (2011) Aoife M. Waters et al. PEDIATRIC NEPHROLOGY
- Genome-Wide RNAi Screen Reveals Disease-Associated Genes That Are Common to Hedgehog and Wnt Signaling
- (2011) L. S. Jacob et al. Science Signaling
- Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles
- (2010) Veena Singla et al. DEVELOPMENTAL CELL
- Functional genomic screen for modulators of ciliogenesis and cilium length
- (2010) Joon Kim et al. NATURE
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
- (2010) Enza Maria Valente et al. NATURE GENETICS
- The primary cilium: a signalling centre during vertebrate development
- (2010) Sarah C. Goetz et al. NATURE REVIEWS GENETICS
- The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation
- (2009) Y. Yin et al. DEVELOPMENT
- RUSBoost: A Hybrid Approach to Alleviating Class Imbalance
- (2009) Chris Seiffert et al. IEEE TRANSACTIONS ON SYSTEMS MAN AND CYBERNETICS PART A-SYSTEMS AND HUMANS
- Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
- (2009) Da Wei Huang et al. Nature Protocols
- Cildb: a knowledgebase for centrosomes and cilia
- (2009) Olivier Arnaiz et al. Database-The Journal of Biological Databases and Curation
- Visualizing Spatiotemporal Dynamics of Multicellular Cell-Cycle Progression
- (2008) Asako Sakaue-Sawano et al. CELL
- Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists
- (2008) Da Wei Huang et al. NUCLEIC ACIDS RESEARCH
- Kinome siRNA Screen Identifies Regulators of Ciliogenesis and Hedgehog Signal Transduction
- (2008) M. Evangelista et al. Science Signaling
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