Motile and non-motile cilia in human pathology: from function to phenotypes (Q39012190)

8 September 2017

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title

Motile and non-motile cilia in human pathology: from function to phenotypes (English)

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8 September 2017

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2

Enza Maria Valente

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author name string

Hannah M Mitchison

series ordinal

1

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8 September 2017

publication date

9 November 2016

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8 September 2017

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8 September 2017

volume

241

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8 September 2017

issue

2

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8 September 2017

page(s)

294-309

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Remodeling Cildb, a popular database for cilia and links for ciliopathies

8 September 2017

cites work

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Proteomic analysis of a eukaryotic cilium

21 January 2018

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The primary cilium: a signalling centre during vertebrate development

21 January 2018

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The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

21 January 2018

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Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling.

21 January 2018

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The Intraflagellar Transport Machinery

21 January 2018

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Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

21 January 2018

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The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.

21 January 2018

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An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

21 January 2018

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Wnt and planar cell polarity signaling in cystic renal disease

21 January 2018

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Modeling ciliopathies: Primary cilia in development and disease

21 January 2018

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Diagnosis and management of primary ciliary dyskinesia

21 January 2018

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Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

21 January 2018

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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

21 January 2018

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Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

21 January 2018

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Ciliary function and motor protein composition of human fallopian tubes.

21 January 2018

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Mutations in Hydin impair ciliary motility in mice

21 January 2018

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Situs inversus and ciliary abnormalities: 20 years later, what is the connection?

21 January 2018

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21 January 2018

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A molecular ruler determines the repeat length in eukaryotic cilia and flagella.

21 January 2018

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The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella

21 January 2018

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DRC3 connects the N-DRC to dynein g to regulate flagellar waveform

21 January 2018

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Cryoelectron tomography of radial spokes in cilia and flagella.

21 January 2018

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Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

21 January 2018

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The axoneme: the propulsive engine of spermatozoa and cilia and associated ciliopathies leading to infertility

21 January 2018

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The evolution and conservation of left-right patterning mechanisms.

21 January 2018

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Roles of cilia, fluid flow, and Ca2+ signaling in breaking of left-right symmetry.

21 January 2018

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FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination.

21 January 2018

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FGF signalling during embryo development regulates cilia length in diverse epithelia

21 January 2018

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Role of cilia, mucus, and airway surface liquid in mucociliary dysfunction: lessons from mouse models

21 January 2018

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Mucociliary clearance in the airways

21 January 2018

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Cilia-based flow network in the brain ventricles

21 January 2018

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Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis

21 January 2018

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Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus

21 January 2018

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Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals

21 January 2018

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Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

21 January 2018

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Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

21 January 2018

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TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

21 January 2018

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21 January 2018

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The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

21 January 2018

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Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

21 January 2018

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Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

21 January 2018

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The cilium secretes bioactive ectosomes

21 January 2018

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C. elegans ciliated sensory neurons release extracellular vesicles that function in animal communication

21 January 2018

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Characterization of PKD protein-positive exosome-like vesicles

21 January 2018

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Ciliary Extracellular Vesicles: Txt Msg Organelles

21 January 2018

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NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway

21 January 2018

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Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

21 January 2018

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Inversin, Wnt signaling and primary cilia

21 January 2018

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Developmental signaling: does it bridge the gap between cilia dysfunction and renal cystogenesis?

21 January 2018

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Role of calcium in polycystic kidney disease: From signaling to pathology

21 January 2018

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Are renal ciliopathies (replication) stressed out?

21 January 2018

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DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

21 January 2018

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The fine structure of secretory neurons in the preoptic nucleus of the goldish (Carassius auratus).

21 January 2018

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Hedgehog trafficking, cilia and brain functions.

21 January 2018

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

21 January 2018

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Sonic hedgehog patterning during cerebellar development

21 January 2018

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

21 January 2018

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

21 January 2018

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

21 January 2018

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GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

21 January 2018

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GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

21 January 2018

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De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

21 January 2018

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Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway

21 January 2018

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Suppressor of fused controls mid-hindbrain patterning and cerebellar morphogenesis via GLI3 repressor.

21 January 2018

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

21 January 2018

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Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

21 January 2018

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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

21 January 2018

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

21 January 2018

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Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo.

21 January 2018

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Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

21 January 2018

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A conserved role for Notch signaling in priming the cellular response to Shh through ciliary localisation of the key Shh transducer Smo.

21 January 2018

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Influences of primary cilia on cortical morphogenesis and neuronal subtype maturation

21 January 2018

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G-protein-coupled receptors, Hedgehog signaling and primary cilia

21 January 2018

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The primary cilium as a cellular receiver: organizing ciliary GPCR signaling

21 January 2018

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Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex

21 January 2018

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Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation

21 January 2018

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

21 January 2018

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A function for the Joubert syndrome protein Arl13b in ciliary membrane extension and ciliary length regulation

21 January 2018

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

21 January 2018

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

21 January 2018

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Diffusion tensor imaging in Joubert syndrome.

21 January 2018

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Neural stem cells: generating and regenerating the brain

21 January 2018

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

21 January 2018

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

21 January 2018

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Metabolic regulation and energy homeostasis through the primary Cilium

21 January 2018

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Molecular basis for photoreceptor outer segment architecture

21 January 2018

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Protein sorting, targeting and trafficking in photoreceptor cells

21 January 2018

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Dysfunction of heterotrimeric kinesin-2 in rod photoreceptor cells and the role of opsin mislocalization in rapid cell death.

21 January 2018

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Kinesin-2 and photoreceptor cell death: requirement of motor subunits

21 January 2018

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

21 January 2018

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Alms1-disrupted mice recapitulate human Alström syndrome

21 January 2018

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The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

21 January 2018

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Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis

21 January 2018

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Embryology of extra- and intrahepatic bile ducts, the ductal plate

21 January 2018

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Cholangiocyte primary cilia in liver health and disease

21 January 2018

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Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation"

21 January 2018

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Liver involvement in children with ciliopathies

21 January 2018

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Liver and kidney disease in ciliopathies

21 January 2018

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The ultrastructure of primary cilia in the endocrine and excretory duct cells of the pancreas of mice and rats

21 January 2018

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Primary cilia in pancreatic development and disease

21 January 2018

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Alström syndrome: genetics and clinical overview

21 January 2018

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

21 January 2018

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Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

21 January 2018

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Intraflagellar transport is essential for endochondral bone formation.

21 January 2018

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Kinetics of hedgehog-dependent full-length Gli3 accumulation in primary cilia and subsequent degradation

21 January 2018

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Ciliary disorder of the skeleton

21 January 2018

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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

21 January 2018

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A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

21 January 2018

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

21 January 2018

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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

21 January 2018

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

21 January 2018

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An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

21 January 2018

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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

21 January 2018

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

21 January 2018

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

21 January 2018

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A systems-biology approach to understanding the ciliopathy disorders

21 January 2018

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Bardet Biedl syndrome: motile ciliary phenotype

21 January 2018

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RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

21 January 2018

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

21 January 2018

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

21 January 2018

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ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies

21 January 2018

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Genetics of human Bardet-Biedl syndrome, an updates

21 January 2018

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Joubert syndrome: congenital cerebellar ataxia with the molar tooth

21 January 2018

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Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

21 January 2018

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Current insights into renal ciliopathies: what can genetics teach us?

21 January 2018

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Update on oral-facial-digital syndromes (OFDS)

21 January 2018

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Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

21 January 2018

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Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

21 January 2018

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Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

21 January 2018

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TCTN3 mutations cause Mohr-Majewski syndrome

21 January 2018

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Molecular characterization of Joubert syndrome in Saudi Arabia

21 January 2018

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Function and regulation of primary cilia and intraflagellar transport proteins in the skeleton

21 January 2018

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The BBSome controls IFT assembly and turnaround in cilia

21 January 2018

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The ciliary transition zone: from morphology and molecules to medicine

21 January 2018

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Ciliary subcompartments: how are they established and what are their functions?

21 January 2018

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The transition zone: an essential functional compartment of cilia

21 January 2018

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MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

21 January 2018

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Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing

21 January 2018

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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

21 January 2018

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Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

21 January 2018

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

21 January 2018

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Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

21 January 2018

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C5orf42 is the major gene responsible for OFD syndrome type VI.

21 January 2018

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

21 January 2018

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KIAA0586 is Mutated in Joubert Syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

21 January 2018

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NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

21 January 2018

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

21 January 2018

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Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience

21 January 2018

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Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

21 January 2018

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

21 January 2018

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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

21 January 2018

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High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

21 January 2018

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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

21 January 2018

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Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

21 January 2018

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

21 January 2018

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

21 January 2018

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Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

21 January 2018

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Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

21 January 2018

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Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

21 January 2018

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Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

21 January 2018

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Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

21 January 2018

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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

21 January 2018

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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

21 January 2018

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Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

21 January 2018

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Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

21 January 2018

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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

21 January 2018

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Functional modules, mutational load and human genetic disease

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PATH.4843

1 reference

8 September 2017

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