Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

A meckelin–filamin A interaction mediates ciliogenesis

(2011) Matthew Adams et al.   HUMAN MOLECULAR GENETICS

Predicting mutation outcome from early stochastic variation in genetic interaction partners

(2011) Alejandro Burga et al.   NATURE

Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

(2011) Madeline A. Lancaster 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

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

(2011) Madeline A Lancaster et al.   NATURE MEDICINE

The primary cilium at a glance

(2010) P. Satir et al.   JOURNAL OF CELL SCIENCE

Molecular Genetics and Pathogenic Mechanisms for the Severe Ciliopathies: Insights into Neurodevelopment and Pathogenesis of Neural Tube Defects

(2010) Clare V. Logan et al.   MOLECULAR NEUROBIOLOGY

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

(2010) Enza Maria Valente et al.   NATURE GENETICS

The primary cilium: a signalling centre during vertebrate development

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

The Primary Cilium as a Complex Signaling Center

(2009) Nicolas F. Berbari et al.   CURRENT BIOLOGY

Dampened Hedgehog signaling but normal Wnt signaling in zebrafish without cilia

(2009) P. Huang et al.   DEVELOPMENT

Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signaling

(2009) Ryan X. Norman et al.   HUMAN MOLECULAR GENETICS

Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway

(2009) Victoria L. Patterson et al.   HUMAN MOLECULAR GENETICS

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

(2009) Rachaneekorn Tammachote et al.   HUMAN MOLECULAR GENETICS

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

(2009) H. R. Dawe et al.   JOURNAL OF CELL SCIENCE

A Mouse Model for Meckel Syndrome Type 3

(2009) S. A. Cook et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

(2009) Hemant Khanna et al.   NATURE GENETICS

Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

(2009) Madeline A Lancaster et al.   NATURE MEDICINE

Primary Cilia Are Not Required for Normal Canonical Wnt Signaling in the Mouse Embryo

(2009) Polloneal Jymmiel R. Ocbina et al.   PLoS One

Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells

(2008) Tae Joo Park et al.   NATURE GENETICS

β-catenin–mediated Wnt signaling regulates neurogenesis in the ventral telencephalon

(2008) Alexandra A Gulacsi et al.   NATURE NEUROSCIENCE

Lhx2 Selector Activity Specifies Cortical Identity and Suppresses Hippocampal Organizer Fate

(2008) V. S. Mangale et al.   SCIENCE