Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

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

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

Interrogating Congenital Heart Defects With Noninvasive Fetal Echocardiography in a Mouse Forward Genetic Screen

(2013) Xiaoqin Liu et al.   Circulation-Cardiovascular Imaging

Assembling a primary cilium

(2013) Sehyun Kim et al.   CURRENT OPINION IN CELL BIOLOGY

C5orf42 is the major gene responsible for OFD syndrome type VI

(2013) Estelle Lopez et al.   HUMAN GENETICS

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity

(2013) Amanda C. Leightner et al.   HUMAN MOLECULAR GENETICS

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

(2013) Zakia A. Abdelhamed et al.   HUMAN MOLECULAR GENETICS

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

(2013) Chihiro Ohba et al.   NEUROGENETICS

Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton

(2013) Cheng Cui et al.   PLOS BIOLOGY

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia

(2012) Gordana Juric-Sekhar et al.   ACTA NEUROPATHOLOGICA

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TCTN3 Mutations Cause Mohr-Majewski Syndrome

(2012) Sophie Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mouse models of ciliopathies: the state of the art

(2012) D. P. Norris et al.   Disease Models & Mechanisms

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

(2012) Ranad Shaheen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations inTMEM231cause Joubert syndrome in French Canadians

(2012) Myriam Srour et al.   JOURNAL OF MEDICAL GENETICS

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

(2012) A. Aguilar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Liyun Sang et al.   CELL

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

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

(2011) Madeline A Lancaster et al.   NATURE MEDICINE

Ciliopathies: an expanding disease spectrum

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

The relationship between sonic Hedgehog signaling, cilia, and neural tube defects

(2010) Jennifer N. Murdoch et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

(2010) C. Cui et al.   Disease Models & Mechanisms

Bulk Segregation Mapping of Mutations in Closely Related Strains of Mice

(2010) Y. Xia et al.   GENETICS

The Kinesin Protein Kif7 Is a Critical Regulator of Gli Transcription Factors in Mammalian Hedgehog Signaling

(2009) H. O.-L. Cheung et al.   Science Signaling

Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

(2009) Dan Doherty   Seminars in Pediatric Neurology

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

(2008) Pamela V Tran et al.   NATURE GENETICS