When cilia go bad: cilia defects and ciliopathies (Q29547198)

Europe PubMed Central

title

When cilia go bad: cilia defects and ciliopathies (English)

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23 April 2017

author name string

Fliegauf M

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1

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23 April 2017

Benzing T

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2

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23 April 2017

Omran H

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3

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17955020

23 April 2017

language of work or name

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23 April 2017

publication date

November 2007

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Nature Reviews Molecular Cell Biology

23 April 2017

published in

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23 April 2017

volume

8

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23 April 2017

issue

11

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23 April 2017

page(s)

880-93

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The role of preassembled cytoplasmic complexes in assembly of flagellar dynein subunits

23 April 2017

cites work

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

21 January 2018

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Polaris, a protein disrupted in orpk mutant mice, is required for assembly of renal cilium

21 January 2018

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Disruption of IFT results in both exocrine and endocrine abnormalities in the pancreas of Tg737(orpk) mutant mice

21 January 2018

1 reference

Kinesin-II is preferentially targeted to assembling cilia and is required for ciliogenesis and normal cytokinesis in Tetrahymena

21 January 2018

1 reference

Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2

21 January 2018

1 reference

Cilia and the cell cycle?

21 January 2018

1 reference

31 March 2020

Intraflagellar transport

1 reference

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

31 March 2020

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

31 March 2020

1 reference

Three types of cilia including a novel 9 4 axoneme on the notochordal plate of the rabbit embryo.

31 March 2020

1 reference

Planar cell polarity and a potential role for a Wnt morphogen gradient in stereociliary bundle orientation in the mammalian inner ear.

31 March 2020

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Lateralization defects and ciliary dyskinesia: lessons from algae

31 March 2020

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To beat or not to beat: roles of cilia in development and disease

31 March 2020

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Overview of structure and function of mammalian cilia

31 March 2020

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The Ciliopathies: An Emerging Class of Human Genetic Disorders

31 March 2020

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Regulation of mammalian ciliary beating.

31 March 2020

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

31 March 2020

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Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation

31 March 2020

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A physiological view of the primary cilium

31 March 2020

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Intraflagellar transport is required for the vectorial movement of TRPV channels in the ciliary membrane

31 March 2020

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Hedgehog signalling in the mouse requires intraflagellar transport proteins

31 March 2020

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PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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Conserved function for embryonic nodal cilia.

31 March 2020

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

31 March 2020

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

31 March 2020

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Generation of robust left-right asymmetry in the mouse embryo requires a self-enhancement and lateral-inhibition system

31 March 2020

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DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

31 March 2020

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Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

31 March 2020

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Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

31 March 2020

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

31 March 2020

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Signaling from Smo to Ci/Gli: conservation and divergence of Hedgehog pathways from Drosophila to vertebrates

31 March 2020

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Developmental roles and clinical significance of hedgehog signaling

31 March 2020

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Loss of the Tg737 protein results in skeletal patterning defects

31 March 2020

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

31 March 2020

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

31 March 2020

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Cilia and Hedgehog responsiveness in the mouse

31 March 2020

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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

31 March 2020

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Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity

31 March 2020

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Progression of vertebrate limb development through SHH-mediated counteraction of GLI3.

31 March 2020

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Van Gogh-like2 (Strabismus) and its role in planar cell polarity and convergent extension in vertebrates

31 March 2020

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Planar cell polarization: an emerging model points in the right direction

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene

31 March 2020

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Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects

31 March 2020

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Localization of extracellular matrix receptors on the chondrocyte primary cilium

31 March 2020

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Male infertility, impaired sperm motility, and hydrocephalus in mice deficient in sperm-associated antigen 6

31 March 2020

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Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry

31 March 2020

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Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene

31 March 2020

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Chlamydomonas reinhardtii hydin is a central pair protein required for flagellar motility

31 March 2020

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

31 March 2020

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Intraflagellar transport is required in Drosophila to differentiate sensory cilia but not sperm.

31 March 2020

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Cyclic changes in ciliation, secretion and cell height of the oviductal epithelium in women

31 March 2020

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Localization of the angiopoietin receptors Tie-1 and Tie-2 on the primary cilia in the female reproductive organs

31 March 2020

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Localization of transient receptor potential ion channels in primary and motile cilia of the female murine reproductive organs

31 March 2020

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Expression and localization of the progesterone receptor in mouse and human reproductive organs

31 March 2020

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The reproductive significance of human Fallopian tube cilia

31 March 2020

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31 March 2020

Cilia-related diseases

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Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics

31 March 2020

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Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia

31 March 2020

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Genetic defects in ciliary structure and function

31 March 2020

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

31 March 2020

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Functional analysis of an individual IFT protein: IFT46 is required for transport of outer dynein arms into flagella

31 March 2020

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Intraflagellar transport (IFT) cargo: IFT transports flagellar precursors to the tip and turnover products to the cell body

31 March 2020

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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

31 March 2020

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

31 March 2020

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

31 March 2020

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Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat.

31 March 2020

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Isolation and characterization of cholangiocyte primary cilia

31 March 2020

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Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

31 March 2020

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Bending the MDCK cell primary cilium increases intracellular calcium

31 March 2020

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

31 March 2020

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

31 March 2020

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Cholangiocyte cilia detect changes in luminal fluid flow and transmit them into intracellular Ca2 and cAMP signaling

31 March 2020

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Early development of polycystic kidney disease in transgenic mice expressing an activated mutant of the beta-catenin gene

31 March 2020

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The ankyrin repeat protein Diversin recruits Casein kinase Iepsilon to the beta-catenin degradation complex and acts in both canonical Wnt and Wnt/JNK signaling

31 March 2020

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Polycystic kidney disease: cell division without a c(l)ue?

31 March 2020

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

31 March 2020

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

31 March 2020

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Cilium-generated signaling: a cellular GPS?

31 March 2020

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

31 March 2020

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

31 March 2020

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RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

31 March 2020

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RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

31 March 2020

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

31 March 2020

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

31 March 2020

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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

31 March 2020

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

31 March 2020

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Lifting the lid on Pandora's box: the Bardet-Biedl syndrome

31 March 2020

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Alms1-disrupted mice recapitulate human Alström syndrome

31 March 2020

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Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers

31 March 2020

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Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells

31 March 2020

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Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

31 March 2020

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Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells

31 March 2020

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

31 March 2020

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Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

31 March 2020

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A TRPV family ion channel required for hearing in Drosophila

31 March 2020

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Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

31 March 2020

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Intraflagellar transport protein 27 is a small G protein involved in cell-cycle control

31 March 2020

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

31 March 2020

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HEF1-dependent Aurora A activation induces disassembly of the primary cilium

31 March 2020

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31 March 2020

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31 March 2020

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Caught Nek-ing: cilia and centrioles

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus

31 March 2020

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Formation of primary cilia in the renal epithelium is regulated by the von Hippel-Lindau tumor suppressor protein

31 March 2020

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Primary cilium formation requires von hippel-lindau gene function in renal-derived cells

31 March 2020

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The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth

31 March 2020

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Three-dimensional organization of basal bodies from wild-type and delta-tubulin deletion strains of Chlamydomonas reinhardtii

31 March 2020

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Elucidation of basal body and centriole functions in Chlamydomonas reinhardtii

31 March 2020

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

31 March 2020

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

31 March 2020

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Extracellular signal-regulated kinase inhibition slows disease progression in mice with polycystic kidney disease

31 March 2020

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Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases

31 March 2020

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Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner

31 March 2020

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Rapamycin markedly slows disease progression in a rat model of polycystic kidney disease

31 March 2020

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

31 March 2020

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Intraflagellar transport and cilium-based signaling

31 March 2020

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17955020

31 March 2020

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23 April 2017

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1053367126

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Consolidated OpenCitations Corpus – April 2017

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PubMed publication ID

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23 April 2017

Consolidated OpenCitations Corpus – April 2017