MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Proteomic Analysis of Isolated Ciliary Transition Zones Reveals the Presence of ESCRT Proteins

(2015) Dennis R. Diener et al.   CURRENT BIOLOGY

Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance

(2015) V. L. Jensen et al.   EMBO JOURNAL

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

(2015) Rivka A. Rachel et al.   HUMAN MOLECULAR GENETICS

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

(2015) Elle C. Roberson et al.   JOURNAL OF CELL BIOLOGY

The ciliary transition zone functions in cell adhesion but is dispensable for axoneme assembly inC. elegans

(2015) Clementine Schouteden et al.   JOURNAL OF CELL BIOLOGY

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

(2015) Quanlong Lu et al.   NATURE CELL BIOLOGY

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition

(2015) Kollu N. Rao et al.   Scientific Reports

Cilia Disassembly with Two Distinct Phases of Regulation

(2015) Zhangfeng Hu et al.   Cell Reports

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

(2015) Laura E. Yee et al.   PLoS Genetics

Cilia and Diseases

(2014) Jason M. Brown et al.   BIOSCIENCE

A Migrating Ciliary Gate Compartmentalizes the Site of Axoneme Assembly in Drosophila Spermatids

(2014) Marcus L. Basiri et al.   CURRENT BIOLOGY

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

(2014) Marta Romani et al.   HUMAN GENETICS

NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone

(2014) J. Awata et al.   JOURNAL OF CELL SCIENCE

How do cilia organize signalling cascades?

(2014) M. V. Nachury   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

G-protein-coupled receptors, Hedgehog signaling and primary cilia

(2014) Saikat Mukhopadhyay et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Nephronophthisis and Retinal Degeneration in Tmem218–/– Mice

(2014) P. Vogel et al.   VETERINARY PATHOLOGY

Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia

(2014) Corey L. Williams et al.   Nature Communications

The primary cilium

(2014) Andrew M Fry et al.   Organogenesis

The million mutation project: A new approach to genetics in Caenorhabditis elegans

(2013) O. Thompson et al.   GENOME RESEARCH

C5orf42 is the major gene responsible for OFD syndrome type VI

(2013) Estelle Lopez et al.   HUMAN GENETICS

CDKL5 regulates flagellar length and localizes to the base of the flagella in Chlamydomonas

(2013) Lai-Wa Tam et al.   MOLECULAR BIOLOGY OF THE CELL

The roles of evolutionarily conserved functional modules in cilia-related trafficking

(2013) Ching-Hwa Sung et al.   NATURE CELL BIOLOGY

Primary cilia in neurodevelopmental disorders

(2013) Enza Maria Valente et al.   Nature Reviews Neurology

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

(2013) Sebiha Cevik et al.   PLoS Genetics

Cilia in vertebrate development and disease

(2012) E. C. Oh et al.   DEVELOPMENT

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

(2012) Jeremy F Reiter et al.   EMBO REPORTS

Scoring a backstage pass: Mechanisms of ciliogenesis and ciliary access

(2012) Francesc R. Garcia-Gonzalo et al.   JOURNAL OF CELL BIOLOGY

Regulating intraflagellar transport

(2012) Lotte B. Pedersen 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

A Genome-Wide Collection of Mos1 Transposon Insertion Mutants for the C. elegans Research Community

(2012) Elodie Vallin et al.   PLoS One

Exploring the Transcriptome of Ciliated Cells Using In Silico Dissection of Human Tissues

(2012) Alexander E. Ivliev et al.   PLoS One

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

(2012) J. H. Lee et al.   SCIENCE

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

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

(2011) William E. Dowdle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Intraflagellar transport proteins in ciliogenesis of photoreceptor cells

(2011) Tina Sedmak et al.   BIOLOGY OF THE CELL

Ultrastructure of cilia and flagella - back to the future!

(2011) Cathy Fisch et al.   BIOLOGY OF THE CELL

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

(2011) Liyun Sang et al.   CELL

Architecture and function of IFT complex proteins in ciliogenesis

(2011) Michael Taschner et al.   DIFFERENTIATION

Zebrafish Cyclin-Dependent Protein Kinase–Like 1 (zcdkl1): Identification and Functional Characterization

(2011) Li-Sung Hsu et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Tracing the origins of centrioles, cilia, and flagella

(2011) Zita Carvalho-Santos et al.   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

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

(2011) Ben Chih 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

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

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

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content

(2010) Branch Craige et al.   JOURNAL OF CELL BIOLOGY

Conditions for dye-filling of sensory neurons in Caenorhabditis elegans

(2010) Yong-Guang Tong et al.   JOURNAL OF NEUROSCIENCE METHODS

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

(2010) Enza Maria Valente et al.   NATURE GENETICS

Mechanisms of Nephronophthisis and Related Ciliopathies

(2010) Toby W. Hurd et al.   NEPHRON EXPERIMENTAL NEPHROLOGY

cAMP and cGMP signaling: sensory systems with prokaryotic roots adopted by eukaryotic cilia

(2010) Jacque-Lynne F. Johnson et al.   TRENDS IN CELL BIOLOGY

Making sense of cilia in disease: The human ciliopathies

(2009) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

(2009) N. J. Bialas et al.   JOURNAL OF CELL SCIENCE

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

(2008) Nicholas T. Gorden et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TheCaenorhabditis elegansnephrocystins act as global modifiers of cilium structure

(2008) Andrew R. Jauregui et al.   JOURNAL OF CELL BIOLOGY

Intraflagellar transport motors in cilia: moving along the cell's antenna

(2008) Jonathan M. Scholey   JOURNAL OF CELL BIOLOGY

Functional Redundancy of the B9 Proteins and Nephrocystins in Caenorhabditis elegans Ciliogenesis

(2008) Corey L. Williams et al.   MOLECULAR BIOLOGY OF THE CELL