Joubert Syndrome. PMID: 20301500
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human. PMID: 35002618
KIAA0586 is Mutated in Joubert Syndrome. PMID: 26096313
Comprehensive profiling of 1015 patients' exomes reveals genomic-clinical associations in colorectal cancer. PMID: 35487942
Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human. PMID: 35571366
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. PMID: 26166481
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome. PMID: 36635699
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. PMID: 30120217
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. PMID: 26386044
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review. PMID: 32080096
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. PMID: 26026149
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). PMID: 26386247
Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome. PMID: 30924151
Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis. PMID: 36538006
The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance. PMID: 29396404
Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance. PMID: 30120317
Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis. PMID: 27146717
The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation. PMID: 19144723
TALPID3 in Joubert syndrome and related ciliopathy disorders. PMID: 31326647
Prospective Evaluation of Kidney Disease in Joubert Syndrome. PMID: 29146704
The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling. PMID: 16702409
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. PMID: 36788019
Generation of mice with functional inactivation of talpid3, a gene first identified in chicken. PMID: 21750036
A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome. PMID: 31095728
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. PMID: 37131188
A distal centriolar protein network controls organelle maturation and asymmetry. PMID: 30258116
Talpid3-Mediated Centrosome Integrity Restrains Neural Progenitor Delamination to Sustain Neurogenesis by Stabilizing Adherens Junctions. PMID: 33326788
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. PMID: 30988386
Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing. PMID: 30993914
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome. PMID: 36580738
[Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases]. PMID: 34308544
Enhancer Locus in ch14q23.1 Modulates Brain Asymmetric Temporal Regions Involved in Language Processing. PMID: 32432689
A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy. PMID: 31816441
Failure of centrosome migration causes a loss of motile cilia in talpid(3) mutants. PMID: 23613203
The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly. PMID: 24421332
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. PMID: 26437029
Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant. PMID: 24743779
TALPID3 and ANKRD26 selectively orchestrate FBF1 localization and cilia gating. PMID: 32366837
Hippocampals neurogenesis is impaired in mice with a deletion in the coiled coil domain of Talpid3-implications for Joubert syndrome. PMID: 35470378
Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors. PMID: 25251415
Expression of ptc and gli genes in talpid3 suggests bifurcation in Shh pathway. PMID: 10225999
Expression of transcription factor c-Rel and apoptosis occurrence in polydactylous and syndactylous limb buds of the talpid3 mutant chick embryo. PMID: 14634293
Author Correction: CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. PMID: 31965052
Craniofacial development in the talpid3 chicken mutant. PMID: 15554946
PKA-mediated Gli2 and Gli3 phosphorylation is inhibited by Hedgehog signaling in cilia and reduced in Talpid3 mutant. PMID: 28673820
Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates. PMID: 22028029
The capacity of normal and talpid3 mutant fowl myogenic cells to migrate in quail limb buds. PMID: 2735533
Analysis of talpid3 and wild-type chicken embryos reveals roles for Hedgehog signalling in development of the limb bud vasculature. PMID: 16959240
DEVELOPMENTAL ABNORMALITIES IN THE TRUNK AND LIMBS OF THE TALPID3 MUTANT OF THE FOWL. PMID: 14192055
Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina. PMID: 27783952
Scale development in talpid3 mutant chick embryos. PMID: 3417549
Cell proliferation in the developing wing-bud of normal and talpid3 mutant chick embryos. PMID: 1214111
Drosophila Segment Polarity Mutants and the Rediscovery of the Hedgehog Pathway Genes. PMID: 26970635
Utilizing the chicken as an animal model for human craniofacial ciliopathies. PMID: 26597494
Identification of genes downstream of the Shh signalling in the developing chick wing and syn-expressed with Hoxd13 using microarray and 3D computational analysis. PMID: 20708683
Regional differences in the morphology and motility of mesodermal cells from the early wing-bud of normal and talpid3 mutant chick embryos. PMID: 744949
Cell generation times in normal and talpid3 mutant chick limb mesenchyme. PMID: 2634607
A scanning electron microscope study of the early limb-bud in normal and talpid3 mutant chick embryos. PMID: 4475684
Immunohistochemical localization of cyclic AMP during normal and abnormal chick and mouse limb development. PMID: 6278668
FBW7 couples structural integrity with functional output of primary cilia. PMID: 34518642
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis., PMID:40448720
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome., PMID:39394465
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome., PMID:39063141
Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype., PMID:38585547
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum., PMID:37932364
The transcriptional state and chromatin landscape of cichlid jaw shape variation across species and environments., PMID:37160741
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome., PMID:36635699
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome., PMID:36580738
Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis., PMID:36538006
Comprehensive profiling of 1015 patients' exomes reveals genomic-clinical associations in colorectal cancer., PMID:35487942
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human., PMID:35002618
[Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases]., PMID:34308544
Talpid3-Mediated Centrosome Integrity Restrains Neural Progenitor Delamination to Sustain Neurogenesis by Stabilizing Adherens Junctions., PMID:33326788
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report., PMID:32381069
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review., PMID:32080096
A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy., PMID:31816441
TALPID3 in Joubert syndrome and related ciliopathy disorders., PMID:31326647
A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome., PMID:31095728
Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing., PMID:30993914
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis., PMID:30988386
Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome., PMID:30924151
A distal centriolar protein network controls organelle maturation and asymmetry., PMID:30258116
Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance., PMID:30120317
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome., PMID:30120217
Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus., PMID:29458881
The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance., PMID:29396404
Prospective Evaluation of Kidney Disease in Joubert Syndrome., PMID:29146704
Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis., PMID:27146717
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families., PMID:26437029
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)., PMID:26386247
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes., PMID:26386044
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome., PMID:26166481
KIAA0586 is Mutated in Joubert Syndrome., PMID:26096313
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome., PMID:26026149
Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant., PMID:24743779
The chicken left right organizer has nonmotile cilia which are lost in a stage-dependent manner in the talpid(3) ciliopathy., PMID:24700455
The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly., PMID:24421332
Failure of centrosome migration causes a loss of motile cilia in talpid(3) mutants., PMID:23613203
Generation of mice with functional inactivation of talpid3, a gene first identified in chicken., PMID:21750036
The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation., PMID:19144723
The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling., PMID:16702409
For research use only. Not for human or drug use.
