An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

(2014) Ranad Shaheen et al.   HUMAN MOLECULAR GENETICS

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

(2014) Aiden Eblimit et al.   HUMAN MOLECULAR GENETICS

Mutation inPLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

(2014) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

(2014) Carol-Anne Martin et al.   NATURE GENETICS

The Ciliary G-Protein-Coupled Receptor Gpr161 Negatively Regulates the Sonic Hedgehog Pathway via cAMP Signaling

(2013) Saikat Mukhopadhyay et al.   CELL

Discovering Regulators of Centriole Biogenesis through siRNA-Based Functional Genomics in Human Cells

(2013) Fernando R. Balestra et al.   DEVELOPMENTAL CELL

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

(2013) Zakia A. Abdelhamed et al.   HUMAN MOLECULAR GENETICS

Arborization of Dendrites by Developing Neocortical Neurons Is Dependent on Primary Cilia and Type 3 Adenylyl Cyclase

(2013) S. M. Guadiana et al.   JOURNAL OF NEUROSCIENCE

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

CCDC41 is required for ciliary vesicle docking to the mother centriole

(2013) K. Joo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ciliary disorder of the skeleton

(2012) Celine Huber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

RNA metabolism and ubiquitin/ubiquitin-like modifications collide

(2012) F. Pelisch et al.   Briefings in Functional Genomics

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

CEP90 Is Required for the Assembly and Centrosomal Accumulation of Centriolar Satellites, Which Is Essential for Primary Cilia Formation

(2012) Kyeongmi Kim et al.   PLoS One

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

(2011) Lijia Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

(2011) Christian Thiel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina

(2011) Nora Overlack et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods

(2011) Lis Jakobsen et al.   EMBO JOURNAL

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase

(2011) Karlien L.M. Coene et al.   HUMAN MOLECULAR GENETICS

Development and distribution of neuronal cilia in mouse neocortex

(2011) Jon I. Arellano et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Functional characterization of putative cilia genes by high-content analysis

(2011) Cary K. Lai et al.   MOLECULAR BIOLOGY OF THE CELL

The Prp19 complex and the Usp4Sart3 deubiquitinating enzyme control reversible ubiquitination at the spliceosome

(2010) E. J. Song et al.   GENES & DEVELOPMENT

Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport inCaenorhabditis elegans

(2010) Sebiha Cevik et al.   JOURNAL OF CELL BIOLOGY

Encoding multiple unnatural amino acids via evolution of a quadruplet-decoding ribosome

(2010) Heinz Neumann et al.   NATURE

Functional genomic screen for modulators of ciliogenesis and cilium length

(2010) Joon Kim et al.   NATURE

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

(2009) H. R. Dawe et al.   JOURNAL OF CELL SCIENCE

Large-scale Proteomics Analysis of the Human Kinome

(2009) Felix S. Oppermann et al.   MOLECULAR & CELLULAR PROTEOMICS

Statistical methods for analysis of high-throughput RNA interference screens

(2009) Amanda Birmingham et al.   NATURE METHODS

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

(2009) Da Wei Huang et al.   Nature Protocols

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

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH

Centrins in retinal photoreceptor cells: Regulators in the connecting cilium

(2008) Philipp Trojan et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Suppressors of the cdc-25.1(gf)-associated intestinal hyperplasia reveal important maternal roles for prp-8 and a subset of splicing factors in C. elegans

(2008) M. Hebeisen et al.   RNA