Related references
Note: Only part of the references are listed.Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
Caroline Alby et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment
Iltaf Ahmed et al.
HUMAN MOLECULAR GENETICS (2015)
Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability
Lars Bjoern Riecken et al.
HUMAN MUTATION (2015)
KIAA0586 is Mutated in Joubert Syndrome
Ruxandra Bachmann-Gagescu et al.
HUMAN MUTATION (2015)
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
R. Bachmann-Gagescu et al.
JOURNAL OF MEDICAL GENETICS (2015)
Identification of a large set of rare complete human knockouts
Patrick Sulem et al.
NATURE GENETICS (2015)
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Susanne Roosing et al.
ELIFE (2015)
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease
F. Buket Basmanav et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
I. Filges et al.
CLINICAL GENETICS (2014)
Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy
Bodo B. Beck et al.
HUMAN MUTATION (2014)
The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly
Tetsuo Kobayashi et al.
JOURNAL OF CELL BIOLOGY (2014)
Talpid3-Binding Centrosomal Protein Cep120 Is Required for Centriole Duplication and Proliferation of Cerebellar Granule Neuron Progenitors
Chuanqing Wu et al.
PLOS ONE (2014)
Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant
Megan G. Davey et al.
ORGANOGENESIS (2014)
A Molecular Blueprint at the Apical Surface Establishes Planar Asymmetry in Cochlear Hair Cells
Basile Tarchini et al.
DEVELOPMENTAL CELL (2013)
Failure of centrosome migration causes a loss of motile cilia in talpid3 mutants
Louise A. Stephen et al.
DEVELOPMENTAL DYNAMICS (2013)
joubert syndrome: congenital cerebellar ataxia with the molar tooth
Marta Romani et al.
LANCET NEUROLOGY (2013)
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu et al.
NATURE (2013)
Acute Versus Chronic Loss of Mammalian Azi1/Cep131 Results in Distinct Ciliary Phenotypes
Emma A. Hall et al.
PLOS GENETICS (2013)
A Rab8 Guanine Nucleotide Exchange Factor-Effector Interaction Network Regulates Primary Ciliogenesis
Shanshan Feng et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
Ji Eun Lee et al.
NATURE GENETICS (2012)
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
Rami Abou Jamra et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Polycystic kidney disease: The complexity of planar cell polarity and signaling during tissue regeneration and cyst formation
Hester Happe et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2011)
Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina
Nora Overlack et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2011)
Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates
Jin Ben et al.
DEVELOPMENT (2011)
Generation of mice with functional inactivation of talpid3, a gene first identified in chicken
Fiona Bangs et al.
DEVELOPMENT (2011)
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
Rami Abou Jamra et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
Claudia Dafinger et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Centrosomes and cilia in human disease
Monica Bettencourt-Dias et al.
TRENDS IN GENETICS (2011)
Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles
Veena Singla et al.
DEVELOPMENTAL CELL (2010)
Intraflagellar transport molecules in ciliary and nonciliary cells of the retina
Tina Sedmak et al.
JOURNAL OF CELL BIOLOGY (2010)
Functional genomic screen for modulators of ciliogenesis and cilium length
Joon Kim et al.
NATURE (2010)
The primary cilium: a signalling centre during vertebrate development
Sarah C. Goetz et al.
NATURE REVIEWS GENETICS (2010)
Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis
Su Kyoung Kim et al.
SCIENCE (2010)
The 1000 Genomes Project: new opportunities for research and social challenges
Marc Via et al.
GENOME MEDICINE (2010)
Control of Centriole Length by CPAP and CP110
Thorsten I. Schmidt et al.
CURRENT BIOLOGY (2009)
The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation
Yili Yin et al.
DEVELOPMENT (2009)
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking
Yi-Chun Hsiao et al.
HUMAN MOLECULAR GENETICS (2009)
Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling
Karel F. Liem et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
The Kinesin Protein Kif7 Is a Critical Regulator of Gli Transcription Factors in Mammalian Hedgehog Signaling
Helen Oi-Lam Cheung et al.
SCIENCE SIGNALING (2009)
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
Joon Kim et al.
HUMAN MOLECULAR GENETICS (2008)
Rab8 regulates basolateral secretory, but not recycling, traffic at the recycling endosome
Lauren Henry et al.
MOLECULAR BIOLOGY OF THE CELL (2008)
Centrins in retinal photoreceptor cells:: Regulators in the connecting cilium
Philipp Trojan et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
Tina Maerker et al.
HUMAN MOLECULAR GENETICS (2008)
Cep97 and CP110 suppress a cilia assembly program
Alexander Spektor et al.
CELL (2007)
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
Maxence V. Nachury et al.
CELL (2007)
Sensory cilia and integration of signal transduction in human health and disease
Soren T. Christensen et al.
TRAFFIC (2007)
Analysis of talpid(3) and wild-type chicken embryos reveals roles for Hedgehog signalling in development of the limb bud vasculature
M. G. Davey et al.
DEVELOPMENTAL BIOLOGY (2007)
Neuronal polarity in CNS development
David J. Solecki et al.
GENES & DEVELOPMENT (2006)
Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis
Anneke I. den Hollander et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
A robust system for RNA interference in the chicken using a modified microRNA operon
Raman M. Das et al.
DEVELOPMENTAL BIOLOGY (2006)
The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling
Megan G. Davey et al.
GENES & DEVELOPMENT (2006)
Craniofacial development in the talpid3 chicken mutant
P Buxton et al.
DIFFERENTIATION (2004)
Sonic hedgehog signaling is required for expansion of granule neuron precursors and patterning of the mouse cerebellum
PM Lewis et al.
DEVELOPMENTAL BIOLOGY (2004)
Proteomic characterization of the human centrosome by protein correlation profiling
JS Andersen et al.
NATURE (2003)