TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

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

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

(2015) Iltaf Ahmed et al.   HUMAN MOLECULAR GENETICS

Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability

(2015) Lars Björn Riecken et al.   HUMAN MUTATION

KIAA0586is Mutated in Joubert Syndrome

(2015) Ruxandra Bachmann-Gagescu et al.   HUMAN MUTATION

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

(2015) R Bachmann-Gagescu et al.   JOURNAL OF MEDICAL GENETICS

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

(2015) Susanne Roosing et al.   eLife

Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

(2014) F. Buket Basmanav et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy

(2014) Bodo B. Beck et al.   HUMAN MUTATION

The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly

(2014) Tetsuo Kobayashi et al.   JOURNAL OF CELL BIOLOGY

Talpid3-Binding Centrosomal Protein Cep120 Is Required for Centriole Duplication and Proliferation of Cerebellar Granule Neuron Progenitors

(2014) Chuanqing Wu et al.   PLoS One

Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in thetalpid3ciliopathy mutant

(2014) Megan G Davey et al.   Organogenesis

Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

(2013) I. Filges et al.   CLINICAL GENETICS

A Molecular Blueprint at the Apical Surface Establishes Planar Asymmetry in Cochlear Hair Cells

(2013) Basile Tarchini et al.   DEVELOPMENTAL CELL

Failure of centrosome migration causes a loss of motile cilia intalpid3mutants

(2013) Louise A. Stephen et al.   DEVELOPMENTAL DYNAMICS

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

Acute Versus Chronic Loss of Mammalian Azi1/Cep131 Results in Distinct Ciliary Phenotypes

(2013) Emma A. Hall et al.   PLoS Genetics

A Rab8 Guanine Nucleotide Exchange Factor-Effector Interaction Network Regulates Primary Ciliogenesis

(2012) Shanshan Feng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

(2012) Ji Eun Lee et al.   NATURE GENETICS

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polycystic kidney disease: The complexity of planar cell polarity and signaling during tissue regeneration and cyst formation

(2011) Hester Happé et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina

(2011) Nora Overlack et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates

(2011) J. Ben et al.   DEVELOPMENT

Generation of mice with functional inactivation of talpid3, a gene first identified in chicken

(2011) F. Bangs et al.   DEVELOPMENT

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

(2011) R Abou Jamra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

(2011) Claudia Dafinger et al.   JOURNAL OF CLINICAL INVESTIGATION

Centrosomes and cilia in human disease

(2011) Mónica Bettencourt-Dias et al.   TRENDS IN GENETICS

Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles

(2010) Veena Singla et al.   DEVELOPMENTAL CELL

Intraflagellar transport molecules in ciliary and nonciliary cells of the retina

(2010) Tina Sedmak et al.   JOURNAL OF CELL BIOLOGY

Functional genomic screen for modulators of ciliogenesis and cilium length

(2010) Joon Kim et al.   NATURE

The primary cilium: a signalling centre during vertebrate development

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

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

(2010) Su Kyoung Kim et al.   SCIENCE

The 1000 Genomes Project: new opportunities for research and social challenges

(2010) Marc Via et al.   Genome Medicine

Control of Centriole Length by CPAP and CP110

(2009) Thorsten I. Schmidt et al.   CURRENT BIOLOGY

The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation

(2009) Y. Yin et al.   DEVELOPMENT

Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking

(2009) Yi-Chun Hsiao et al.   HUMAN MOLECULAR GENETICS

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

(2009) K. F. Liem et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

(2008) Joon Kim et al.   HUMAN MOLECULAR GENETICS

Rab8 Regulates Basolateral Secretory, But Not Recycling, Traffic at the Recycling Endosome

(2008) Lauren Henry et al.   MOLECULAR BIOLOGY OF THE CELL

Centrins in retinal photoreceptor cells: Regulators in the connecting cilium

(2008) Philipp Trojan et al.   PROGRESS IN RETINAL AND EYE RESEARCH