Modeling ciliopathies: Primary cilia in development and disease (Q37383076)

20 August 2017

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title

Modeling ciliopathies: Primary cilia in development and disease (English)

1 reference

20 August 2017

Robyn J Quinlan

1

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PubMed ID

19186246

20 August 2017

Jonathan L Tobin

series ordinal

2

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PubMed ID

19186246

20 August 2017

Philip L Beales

series ordinal

3

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20 August 2017

1 January 2008

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Current Topics in Developmental Biology

20 August 2017

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20 August 2017

84

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20 August 2017

249-310

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A Human Syndrome Caused by Immotile Cilia

20 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Proteomic characterization of the human centrosome by protein correlation profiling

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Fat aussie--a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Juvenile cystic kidneys (jck): a new mouse mutation which causes polycystic kidneys

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Polaris and Polycystin-2 in dorsal forerunner cells and Kupffer's vesicle are required for specification of the zebrafish left-right axis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Orpk mouse model of polycystic kidney disease reveals essential role of primary cilia in pancreatic tissue organization

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Primary cilia deletion in pancreatic epithelial cells results in cyst formation and pancreatitis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The graded response to Sonic Hedgehog depends on cilia architecture

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Cilia Proteins Control Cerebellar Morphogenesis by Promoting Expansion of the Granule Progenitor Pool

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Alms1-disrupted mice recapitulate human Alström syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Vertebrate Smoothened functions at the primary cilium

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Autosomal-dominant polycystic kidney disease in the rat

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Epithelial cell polarity genes are required for neural tube closure

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Kidney development and disease in the zebrafish

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Early Hedgehog signaling from neural to oral epithelium organizes anterior craniofacial development

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mammalian target of rapamycin and caspase inhibitors in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Cilia and developmental signaling

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mouse Rab23 regulates hedgehog signaling from smoothened to Gli proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

1 reference

7 January 2021

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Functional modulation of IFT kinesins extends the sensory repertoire of ciliated neurons in Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Identification of the gene for oral-facial-digital type I syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

New mouse model for polycystic kidney disease with both recessive and dominant gene effects

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Identification of the human CYS1 gene and candidate gene analysis in Boichis disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A new gene, EVC2, is mutated in Ellis-van Creveld syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Analysis of mouse embryonic patterning and morphogenesis by forward genetics

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Renal expression of a transforming growth factor-alpha transgene accelerates the progression of inherited, slowly progressive polycystic kidney disease in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Inherited diseases of the kidney.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Energy metabolism in Bardet–Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Rat models of autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Murine models of polycystic kidney disease: molecular and therapeutic insights

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Evidence that two phenotypically distinct mouse PKD mutations, bpk and jcpk, are allelic

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Coactivation of Rac and Rho by Wnt/Frizzled signaling is required for vertebrate gastrulation

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Tuberous sclerosis and the kidney: from mesenchyme to epithelium, and beyond

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Nephronophthisis-associated ciliopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Cilia and Hedgehog responsiveness in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Hedgehog signalling in the mouse requires intraflagellar transport proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4Gene

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Polycystic kidney diseases: from molecular discoveries to targeted therapeutic strategies

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

1 reference

7 January 2021

Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Zebrafish trilobite identifies new roles for Strabismus in gastrulation and neuronal movements.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Planar cell polarity signaling in vertebrates

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Alstrom syndrome (OMIM 203800): a case report and literature review

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Shaping the mammalian auditory sensory organ by the planar cell polarity pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in VANGL1 associated with neural-tube defects

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Planar polarity in the ciliated epidermis of Xenopus embryos

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A motility in the eukaryotic flagellum unrelated to flagellar beating

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The Chlamydomonas kinesin-like protein FLA10 is involved in motility associated with the flagellar membrane

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Organization of the pronephric filtration apparatus in zebrafish requires Nephrin, Podocin and the FERM domain protein Mosaic eyes

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Polycystic kidney disease: the cilium as a common pathway in cystogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Genetic basis of Joubert syndrome and related disorders of cerebellar development

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

New Alström syndrome phenotypes based on the evaluation of 182 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mechanistic insight into how Shh patterns the vertebrate limb

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Two populations of node monocilia initiate left-right asymmetry in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Cloning of inv, a gene that controls left/right asymmetry and kidney development.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Renal and biliary abnormalities in a new murine model of autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The Han:SPRD rat is not a genetic model of human autosomal dominant polycystic kidney disease type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Determination of left–right patterning of the mouse embryo by artificial nodal flow

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Intraflagellar transport, cilia, and mammalian Hedgehog signaling: analysis in mouse embryonic fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Abnormal nodal flow precedes situs inversus in iv and inv mice

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Molecular pathogenesis of ADPKD: the polycystin complex gets complex

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

1 reference

7 January 2021

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Clinical and genetic heterogeneity in Meckel syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The DHC1b (DHC2) isoform of cytoplasmic dynein is required for flagellar assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The ion channel polycystin-2 is required for left-right axis determination in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutant sensory cilia in the nematode Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Sonic hedgehog signaling from the urethral epithelium controls external genital development.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Cloning of Fatso (Fto), a novel gene deleted by the Fused toes (Ft) mouse mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Transport of a novel complex in the cytoplasmic matrix of Chlamydomonas flagella

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The 9 + 2 axoneme anchors multiple inner arm dyneins and a network of kinases and phosphatases that control motility

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Cytoplasmic dynein heavy chain 1b is required for flagellar assembly in Chlamydomonas

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

PKD1 interacts with PKD2 through a probable coiled-coil domain

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Targeted deletion of the novel cytoplasmic dynein mD2LIC disrupts the embryonic organiser, formation of the body axes and specification of ventral cell fates

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The intraflagellar transport component IFT88/polaris is a centrosomal protein regulating G1-S transition in non-ciliated cells

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Patched1 regulates hedgehog signaling at the primary cilium

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Alström syndrome. Report of 22 cases and literature review.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The Meckel syndrome: clinicopathological findings in 67 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

1 reference

7 January 2021

Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Characterization of the Han:SPRD rat model for hereditary polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Role of a class DHC1b dynein in retrograde transport of IFT motors and IFT raft particles along cilia, but not dendrites, in chemosensory neurons of living Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Nek8 regulates the expression and localization of polycystin-1 and polycystin-2

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Human disease: calcium signaling in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A gradient of Gli activity mediates graded Sonic Hedgehog signaling in the neural tube

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Morphogenesis of the murine node and notochordal plate

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A new mouse model of genetically transmitted polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Bardet-Biedl syndrome: beyond the cilium.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Restoration of renal function in zebrafish models of ciliopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Therapies to slow polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Ftm is a novel basal body protein of cilia involved in Shh signalling

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The left-right determinant Inversin is a component of node monocilia and other 9+0 cilia.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

1 reference

7 January 2021

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Photoreceptor localization of the KIF3A and KIF3B subunits of the heterotrimeric microtubule motor kinesin II in vertebrate retina

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Tsc1 haploinsufficiency without mammalian target of rapamycin activation is sufficient for renal cyst formation in Tsc1+/- mice

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Structural basis of the recognition of the dishevelled DEP domain in the Wnt signaling pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Direct binding of the PDZ domain of Dishevelled to a conserved internal sequence in the C-terminal region of Frizzled

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Molecular cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Somatic inactivation of Pkd2 results in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Role of primary cilia in the pathogenesis of polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Genomic structure of the gene encoding the human GLI-related, Krüppel-like zinc finger protein GLIS2.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Characterization of Glis2, a novel gene encoding a Gli-related, Krüppel-like transcription factor with transactivation and repressor functions. Roles in kidney development and neurogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Loss of the Tg737 protein results in skeletal patterning defects

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Ciliary proteins link basal body polarization to planar cell polarity regulation

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Col2-Cre recombinase is co-expressed with endogenous type II collagen in embryonic renal epithelium and drives development of polycystic kidney disease following inactivation of ciliary genes.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

KIF3A is a new microtubule-based anterograde motor in the nerve axon

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The pck rat: a new model that resembles human autosomal dominant polycystic kidney and liver disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Mobility of the von Hippel-Lindau tumour suppressor protein is regulated by kinesin-2.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Heterotrimeric kinesin-II is required for the assembly of motile 9+2 ciliary axonemes on sea urchin embryos

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A candidate gene for the mouse mutation tubby

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Positional cloning of jcpk/bpk locus of the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Fat (fat) and tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Homozygosity mapping of a third Joubert syndrome locus to 6q23

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

The mouse Fused toes (Ft) mutation is the result of a 1.6-Mb deletion including the entire Iroquois B gene cluster

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2808%2900605-4

7 January 2021

10.1016/S0070-2153(08)00605-4

Identifiers

DOI

1 reference

20 August 2017

1 reference

PubMed ID

19186246