OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

(2015) Nils J. Lambacher et al.   NATURE CELL BIOLOGY

Erratum: Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation

(2015) Quanlong Lu et al.   NATURE CELL BIOLOGY

Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis geneWDPCPin a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas

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Centriolar satellites: key mediators of centrosome functions

(2014) Maxim A. X. Tollenaere et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Proximity Interactions among Centrosome Components Identify Regulators of Centriole Duplication

(2014) Elif Nur Firat-Karalar et al.   CURRENT BIOLOGY

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

(2014) Tetsuo Kobayashi et al.   JOURNAL OF CELL BIOLOGY

Centriole amplification by mother and daughter centrioles differs in multiciliated cells

(2014) Adel Al Jord et al.   NATURE

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

(2014) Christel Thauvin-Robinet et al.   NATURE GENETICS

C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals

(2014) Xuan Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome

(2013) Hanan E. Shamseldin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Protein quality control and elimination of protein waste: The role of the ubiquitin–proteasome system

(2013) Ingo Amm et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

C5orf42 is the major gene responsible for OFD syndrome type VI

(2013) Estelle Lopez et al.   HUMAN GENETICS

Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX

(2013) Nouran Adly et al.   HUMAN MUTATION

The centriolar satellite protein SSX2IP promotes centrosome maturation

(2013) Felix Bärenz et al.   JOURNAL OF CELL BIOLOGY

CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base

(2013) Won-Jing Wang et al.   NATURE CELL BIOLOGY

Molecular Basis of Tubulin Transport Within the Cilium by IFT74 and IFT81

(2013) S. Bhogaraju et al.   SCIENCE

OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment

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The ciliopathies: a transitional model into systems biology of human genetic disease

(2012) Erica E Davis et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

(2012) Qihong Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The conserved centrosomal protein FOR20 is required for assembly of the transition zone and basal body docking at the cell surface

(2012) A. Aubusson-Fleury et al.   JOURNAL OF CELL SCIENCE

The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium

(2012) Timothy R. Stowe et al.   MOLECULAR BIOLOGY OF THE CELL

Regulating intraflagellar transport

(2012) Lotte B. Pedersen et al.   NATURE CELL BIOLOGY

The BBSome controls IFT assembly and turnaround in cilia

(2012) Qing Wei et al.   NATURE CELL BIOLOGY

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

(2012) Andrea Poretti et al.   Orphanet Journal of Rare Diseases

The ciliary transition zone: from morphology and molecules to medicine

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Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

Modeling Human Disease in Humans: The Ciliopathies

(2011) Gaia Novarino et al.   CELL

Centriolar satellites: Busy orbits around the centrosome

(2011) Felix Bärenz et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

(2011) Corey L. Williams et al.   JOURNAL OF CELL BIOLOGY

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

(2011) C. A. M. Lopes et al.   JOURNAL OF CELL SCIENCE

A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain

(2011) Ben Chih et al.   NATURE CELL BIOLOGY

The centrosome cycle: Centriole biogenesis, duplication and inherent asymmetries

(2011) Erich A. Nigg et al.   NATURE CELL BIOLOGY

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

(2011) Francesc R Garcia-Gonzalo et al.   NATURE GENETICS

Hidden Markov model speed heuristic and iterative HMM search procedure

(2010) L Steven Johnson et al.   BMC BIOINFORMATICS

The centrosomal FOP protein is required for cell cycle progression and survival

(2010) Claire Acquaviva et al.   CELL CYCLE

The ciliary membrane

(2010) Rajat Rohatgi et al.   CURRENT OPINION IN CELL BIOLOGY

Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles

(2010) Veena Singla et al.   DEVELOPMENTAL CELL

Control of ciliogenesis by FOR20, a novel centrosome and pericentriolar satellite protein

(2010) F. Sedjai et al.   JOURNAL OF CELL SCIENCE

Post-translational modifications of microtubules

(2010) D. Wloga et al.   JOURNAL OF CELL SCIENCE

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

Centrioles, Centrosomes, and Cilia in Health and Disease

(2009) Erich A. Nigg et al.   CELL

Single Molecule Imaging Reveals Differences in Microtubule Track Selection Between Kinesin Motors

(2009) Dawen Cai et al.   PLOS BIOLOGY

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

(2008) Joon Kim et al.   HUMAN MOLECULAR GENETICS

Differential trafficking of Kif5c on tyrosinated and detyrosinated microtubules in live cells

(2008) S. Dunn et al.   JOURNAL OF CELL SCIENCE

BAC TransgeneOmics: a high-throughput method for exploration of protein function in mammals

(2008) Ina Poser et al.   NATURE METHODS