ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
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A polycystin-centric view of cyst formation and disease: the polycystins revisitedARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopiesCompartments within a compartment: what C. elegans can tell us about ciliary subdomain composition, biogenesis, function, and diseaseThe polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells.Global genetic analysis in mice unveils central role for cilia in congenital heart diseaseANKS3 Co-Localises with ANKS6 in Mouse Renal Cilia and Is Associated with Vasopressin Signaling and Apoptosis In Vivo in MiceCharacterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3Nephronophthisis and related syndromesCasein kinase 1 α phosphorylates the Wnt regulator Jade-1 and modulates its activityEffect of Sodium-Glucose Cotransport Inhibition on Polycystic Kidney Disease Progression in PCK RatsTectonic gene mutations in patients with Joubert syndrome.Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.From the cytoplasm into the cilium: bon voyage.Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.Exploring the genetic basis of early-onset chronic kidney disease.The nphp-2 and arl-13 genetic modules interact to regulate ciliogenesis and ciliary microtubule patterning in C. elegans.ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning.An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney diseaseIn vivo investigation of cilia structure and function using XenopusCompromised vertebral structural and mechanical properties associated with progressive kidney disease and the effects of traditional pharmacological interventionsBicc1 Polymerization Regulates the Localization and Silencing of Bound mRNA.A protocol for the identification and validation of novel genetic causes of kidney diseaseNovel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.Lack of Benefit of Early Intervention with Dietary Flax and Fish Oil and Soy Protein in Orthologous Rodent Models of Human Hereditary Polycystic Kidney DiseaseCalcitriol Suppression of Parathyroid Hormone Fails to Improve Skeletal Properties in an Animal Model of Chronic Kidney Disease.Genetic link between renal birth defects and congenital heart diseaseFatty Acid Oxidation is Impaired in An Orthologous Mouse Model of Autosomal Dominant Polycystic Kidney Disease.Raloxifene improves skeletal properties in an animal model of cystic chronic kidney diseaseModular transcriptional repertoire and MicroRNA target analyses characterize genomic dysregulation in the thymus of Down syndrome infants.Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney diseaseOpen Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.BMP signaling and its modifiers in kidney development.Cilia and coordination of signaling networks during heart development.Next-generation sequencing for research and diagnostics in kidney disease.Proteomic analysis of the kidney filtration barrier--Problems and perspectives.Genetic basis of human left-right asymmetry disorders.Ciliary subcompartments and cysto-proteins.Toolbox in a tadpole: Xenopus for kidney research.
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ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 23 June 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
@en
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
@nl
type
label
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
@en
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
@nl
prefLabel
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
@en
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
@nl
P2093
P2860
P50
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P1433
P1476
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
@en
P2093
Carsten Bergmann
Christoph Schell
Christopher Boehlke
Daniel Epting
Detlef Bockenhauer
E Wolfgang Kuehn
Emilie Filhol
Friedhelm Hildebrandt
Hanno J Bolz
P2860
P2888
P304
P356
10.1038/NG.2681
P407
P50
P577
2013-06-23T00:00:00Z