TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish

(2015) Fatma O. Kok et al.   DEVELOPMENTAL CELL

ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis

(2014) P. Goggolidou et al.   DEVELOPMENT

Out with the old, in with the new: reassessing morpholino knockdowns in light of genome editing technology

(2014) S. Schulte-Merker et al.   DEVELOPMENT

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

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

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

Subunit composition of the human cytoplasmic dynein-2 complex

(2014) D. Asante et al.   JOURNAL OF CELL SCIENCE

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

(2013) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

(2013) Aideen M. McInerney-Leo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

(2013) Miriam Schmidts et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

(2013) Jan Halbritter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

(2013) Karina Tuz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish

(2013) S. Ryan et al.   DEVELOPMENT

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

(2013) Geneviève Baujat et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

(2013) Miriam Schmidts et al.   JOURNAL OF MEDICAL GENETICS

WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia

(2013) Ramila S. Patel-King et al.   MOLECULAR BIOLOGY OF THE CELL

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

(2013) Kerry A. Miller et al.   PLoS Genetics

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

(2012) Isabelle Perrault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliary disorder of the skeleton

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

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

(2012) Alyson Ashe et al.   HUMAN MOLECULAR GENETICS

The role of retrograde intraflagellar transport in flagellar assembly, maintenance, and function

(2012) Benjamin D. Engel et al.   JOURNAL OF CELL BIOLOGY

NEK1andDYNC2H1are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

(2012) Joyce El Hokayem et al.   JOURNAL OF MEDICAL GENETICS

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

(2011) Cecilie Bredrup et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A unified taxonomy for ciliary dyneins

(2011) Erik F. Y. Hom et al.   Cytoskeleton

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Complex interactions between genes controlling trafficking in primary cilia

(2011) Polloneal Jymmiel R Ocbina et al.   NATURE GENETICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

A systems-biology approach to understanding the ciliopathy disorders

(2011) Ji Eun Lee et al.   Genome Medicine

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

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

The primary cilium: a signalling centre during vertebrate development

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

Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

(2009) Amy E. Merrill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

(2009) Nathalie Dagoneau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Zebrafishift57,ift88, andift172intraflagellar transport mutants disrupt cilia but do not affect hedgehog signaling

(2009) Shannon C. Lunt et al.   DEVELOPMENTAL DYNAMICS

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

HA-tagging of putative flagellar proteins inChlamydomonas reinhardtiiidentifies a novel protein of intraflagellar transport complex B

(2009) Karl-Ferdinand Lechtreck et al.   CELL MOTILITY AND THE CYTOSKELETON