Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia

The Cilium: Cellular Antenna and Central Processing Unit

(2017) Jarema J. Malicki et al.   TRENDS IN CELL BIOLOGY

Primary cilium and autophagy: The avengers of cell-size regulation

(2016) Idil Orhon et al.   Autophagy

Autophagy and primary cilia: dual interplay

(2016) Olatz Pampliega et al.   CURRENT OPINION IN CELL BIOLOGY

Effectors of mTOR-autophagy pathway: targeting cancer, affecting the skeleton

(2016) Andrei S Chagin   CURRENT OPINION IN PHARMACOLOGY

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

(2016) Wenjuan Zhang et al.   HUMAN MOLECULAR GENETICS

Disruption of kif3a results in defective osteoblastic differentiation in dental mesenchymal stem/precursor cells via the Wnt signaling pathway

(2016) Sicong Jiang et al.   Molecular Medicine Reports

IFT88 influences chondrocyte actin organization and biomechanics

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

Canonical and noncanonical intraflagellar transport regulates craniofacial skeletal development

(2016) Kazuo Noda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

mTORC1 regulates PTHrP to coordinate chondrocyte growth, proliferation and differentiation

(2016) Bo Yan et al.   Nature Communications

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

(2016) Corinne Stoetzel et al.   Nature Communications

Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice

(2016) Honghao Zhang et al.   PLoS Genetics

FGFR3/fibroblast growth factor receptor 3 inhibits autophagy through decreasing the ATG12–ATG5 conjugate, leading to the delay of cartilage development in achondroplasia

(2015) Xiaofeng Wang et al.   Autophagy

Reciprocal regulation of cilia and autophagy via the MTOR and proteasome pathways

(2015) Shixuan Wang et al.   Autophagy

Autophagy Regulates Formation of Primary Cilia in Mefloquine-Treated Cells

(2015) Ji Hyun Shin et al.   Biomolecules & Therapeutics

Assembly of IFT Trains at the Ciliary Base Depends on IFT74

(2015) Jason M. Brown et al.   CURRENT BIOLOGY

Fibroblast growth factor signaling in skeletal development and disease

(2015) David M. Ornitz et al.   GENES & DEVELOPMENT

Targeted Deletion of Autophagy Genes Atg5 or Atg7 in the Chondrocytes Promotes Caspase-Dependent Cell Death and Leads to Mild Growth Retardation

(2015) Karuna K Vuppalapati et al.   JOURNAL OF BONE AND MINERAL RESEARCH

FGF signalling regulates bone growth through autophagy

(2015) Laura Cinque et al.   NATURE

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

(2015) S. Paige Taylor 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

Function and regulation of primary cilia and intraflagellar transport proteins in the skeleton

(2014) Xue Yuan et al.   Annals of the New York Academy of Sciences

Self-eating to remove cilia roadblock

(2014) Zaiming Tang et al.   Autophagy

Autophagy and regulation of cilia function and assembly

(2014) I Orhon et al.   CELL DEATH AND DIFFERENTIATION

The growth plate’s response to load is partially mediated by mechano-sensing via the chondrocytic primary cilium

(2014) Yoach Rais et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Primary Cilia in the Developing and Mature Brain

(2014) Alicia Guemez-Gamboa et al.   NEURON

From the Radiologic Pathology Archives: Pediatric Polycystic Kidney Disease and Other Ciliopathies: Radiologic-Pathologic Correlation

(2014) Ellen M. Chung et al.   RADIOGRAPHICS

Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension

(2014) Kousuke Kasahara et al.   Nature Communications

From the cytoplasm into the cilium: Bon voyage

(2014) Jarema Malicki et al.   Organogenesis

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

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

Ciliary disorder of the skeleton

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

Architecture and function of IFT complex proteins in ciliogenesis

(2011) Michael Taschner et al.   DIFFERENTIATION

A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model

(2011) Aurélie Jonquoy et al.   HUMAN MOLECULAR GENETICS

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

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

An actin-dependent mechanism for long-range vesicle transport

(2011) Melina Schuh   NATURE CELL BIOLOGY

A Variant of Fibroblast Growth Factor Receptor 2 (Fgfr2) Regulates Left-Right Asymmetry in Zebrafish

(2011) Da-Wei Liu et al.   PLoS One

Craniofacial ciliopathies: A new classification for craniofacial disorders

(2010) Samantha A. Brugmann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Functional genomic screen for modulators of ciliogenesis and cilium length

(2010) Joon Kim et al.   NATURE

Primary cilia regulate mTORC1 activity and cell size through Lkb1

(2010) Christopher Boehlke et al.   NATURE CELL BIOLOGY

The primary cilium: a signalling centre during vertebrate development

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

FGF signalling during embryo development regulates cilia length in diverse epithelia

(2009) Judith M. Neugebauer et al.   NATURE

Achondroplasia

(2008) Geneviève Baujat et al.   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia

(2008) Stéphanie Pannier et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The Golgin GMAP210/TRIP11 Anchors IFT20 to the Golgi Complex

(2008) John A. Follit et al.   PLoS Genetics