Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

‘Motile and non-motile cilia in human pathology: from function to phenotypes’

(2017)   JOURNAL OF PATHOLOGY

Intraflagellar transport proteins 172, 80, 57, 54, 38, and 20 form a stable tubulin‐binding IFT‐B2 complex

(2016) Michael Taschner et al.   EMBO JOURNAL

An inactivating mutation in intestinal cell kinase,ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome

(2016) S. Paige Taylor et al.   HUMAN MOLECULAR GENETICS

IFT52mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

(2016) Wenjuan Zhang et al.   HUMAN MOLECULAR GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

(2016) Michinori Toriyama et al.   NATURE GENETICS

Strain-induced mechanotransduction through primary cilia, extracellular ATP, purinergic calcium signaling, and ERK1/2 transactivates CITED2 and downregulates MMP-1 and MMP-13 gene expression in chondrocytes

(2016) Z. He et al.   OSTEOARTHRITIS AND CARTILAGE

Role for the IFT-A Complex in Selective Transport to the Primary Cilium

(2016) Wenxiang Fu et al.   Cell Reports

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

(2016) Ivan Duran et al.   Scientific Reports

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

(2015) Caroline Alby et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis

(2015) Ankur A. Gholkar et al.   CELL CYCLE

Tubulin transport by IFT is upregulated during ciliary growth by a cilium-autonomous mechanism

(2015) Julie M. Craft et al.   JOURNAL OF CELL BIOLOGY

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

(2015) Gabrielle Wheway et al.   NATURE CELL BIOLOGY

IFT–Cargo Interactions and Protein Transport in Cilia

(2015) Karl F. Lechtreck   TRENDS IN BIOCHEMICAL SCIENCES

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

(2015) S. Paige Taylor et al.   Nature Communications

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

(2015) Miriam Schmidts et al.   Nature Communications

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

(2015) Albane A. Bizet et al.   Nature Communications

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

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations inLBR

(2013) Lior Borovik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Differential Cargo-Loading Model of Ciliary Length Regulation by IFT

(2013) Kathryne N. Wren et al.   CURRENT BIOLOGY

IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways

(2013) Changdong Wang et al.   EXPERIMENTAL CELL RESEARCH

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport GeneIFT140in Skeletal Ciliopathies with Early Progressive Kidney Disease

(2013) Miriam Schmidts et al.   HUMAN MUTATION

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

The PCP effector Fuzzy controls cilial assembly and signaling by recruiting Rab8 and Dishevelled to the primary cilium

(2013) Yulia Zilber et al.   MOLECULAR BIOLOGY OF THE CELL

TGF-β Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium

(2013) Christian Alexandro Clement et al.   Cell Reports

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

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

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

Centrosome Fine Ultrastructure of the Osteocyte Mechanosensitive Primary Cilium

(2012) R.E. Uzbekov et al.   MICROSCOPY AND MICROANALYSIS

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

(2011) Pleasantine Mill 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

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 Role for the Primary Cilium in Notch Signaling and Epidermal Differentiation during Skin Development

(2011) Ellen J. Ezratty et al.   CELL

Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation

(2011) Nicolas F. Berbari et al.   DEVELOPMENTAL BIOLOGY

Architecture and function of IFT complex proteins in ciliogenesis

(2011) Michael Taschner et al.   DIFFERENTIATION

Biochemical Mapping of Interactions within the Intraflagellar Transport (IFT) B Core Complex

(2011) Michael Taschner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

(2011) H. H. Arts et al.   JOURNAL OF MEDICAL GENETICS

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

Ciliogenesis: building the cell's antenna

(2011) Hiroaki Ishikawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

(2011) Peter Clayton et al.   Nucleus

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

(2010) Joanna Walczak-Sztulpa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

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

Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients

(2009) Beyhan Tüysüz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

(2009) Victor L. Ruiz-Perez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

(2009) D. P. Cavalcanti et al.   JOURNAL OF MEDICAL GENETICS

FGF signalling during embryo development regulates cilia length in diverse epithelia

(2009) Judith M. Neugebauer et al.   NATURE

The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development

(2009) Ryan S. Gray et al.   NATURE CELL BIOLOGY

Primary Cilia: Cellular Sensors for the Skeleton

(2008) Charles T. Anderson et al.   Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology

Intraflagellar transport, cilia, and mammalian Hedgehog signaling: Analysis in mouse embryonic fibroblasts

(2008) Polloneal Jymmiel R. Ocbina et al.   DEVELOPMENTAL DYNAMICS

Regulatory ATPase Sites of Cytoplasmic Dynein Affect Processivity and Force Generation

(2008) Carol Cho et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2008) Jonathan M. Scholey   JOURNAL OF CELL BIOLOGY

When cilia go bad: cilia defects and ciliopathies

(2007) Manfred Fliegauf et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY