Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
about
Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarityPitchfork regulates primary cilia disassembly and left-right asymmetryIdentification of novel families and classification of the C2 domain superfamily elucidate the origin and evolution of membrane targeting activities in eukaryotesCilia in vertebrate development and diseaseEffects of TORC1 Inhibition during the Early and Established Phases of Polycystic Kidney DiseaseRenal cystic disease proteins play critical roles in the organization of the olfactory epitheliumRegulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cellsMKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesisMutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationNedd9 restrains renal cystogenesis in Pkd1-/- miceA mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signalingMeckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndromeAn ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Target-of-rapamycin complex 1 (Torc1) signaling modulates cilia size and function through protein synthesis regulation.The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.Reduction of meckelin leads to general loss of cilia, ciliary microtubule misalignment and distorted cell surface organization.Tubulin transport by IFT is upregulated during ciliary growth by a cilium-autonomous mechanismA novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8Loss of primary cilia occurs early in breast cancer development.Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.Supernumerary centrosomes nucleate extra cilia and compromise primary cilium signalingMutations of CEP83 cause infantile nephronophthisis and intellectual disabilityNovel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.A chemical screen identifies class a g-protein coupled receptors as regulators of cilia.The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.Soluble levels of cytosolic tubulin regulate ciliary length controlB9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysisMechanism of cystogenesis in nephrotic kidneys: a histopathological study.Cilium, centrosome and cell cycle regulation in polycystic kidney disease.Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin.Stages of ciliogenesis and regulation of ciliary lengthThe transition zone protein Rpgrip1l regulates proteasomal activity at the primary ciliumMeckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesisThe ciliary transition zone: from morphology and molecules to medicineVIP17/MAL expression modulates epithelial cyst formation and ciliogenesisFunctional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Regulation of transport in the connecting tubule and cortical collecting ductCilia, Wnt signaling, and the cytoskeleton
P2860
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P2860
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
description
2009 nî lūn-bûn
@nan
2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@ast
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@en
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@en-gb
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@nl
type
label
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@ast
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@en
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@en-gb
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@nl
prefLabel
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@ast
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@en
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@en-gb
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@nl
P2093
P2860
P921
P3181
P356
P1476
Ciliary and centrosomal defect ...... l syndrome genes MKS1 and MKS3
@en
P2093
Amanda C Leightner
Caroline A Miller
Christopher J Ward
Cynthia J Hommerding
Jeffrey L Salisbury
Peter C Harris
Peter G Czarnecki
Rachel M Sinders
Vicente E Torres
Vincent H Gattone
P2860
P304
P3181
P356
10.1093/HMG/DDP272
P407
P577
2009-06-10T00:00:00Z