Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
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A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexesStructural and molecular basis of the assembly of the TRPP2/PKD1 complexMutations of the human polycystic kidney disease 2 (PKD2) geneMutations in SEC63 cause autosomal dominant polycystic liver diseaseRegulation of ryanodine receptor-dependent calcium signaling by polycystin-2TAZ promotes PC2 degradation through a SCFbeta-Trcp E3 ligase complexFunction and regulation of TRPP2 ion channel revealed by a gain-of-function mutantPolycystin-2 activation by inositol 1,4,5-trisphosphate-induced Ca2+ release requires its direct association with the inositol 1,4,5-trisphosphate receptor in a signaling microdomain.A latent capacity of the C. elegans polycystins to disrupt sensory transduction is repressed by the single-pass ciliary membrane protein CWP-5.The TRP superfamily of cation channels.Organic cation permeation through the channel formed by polycystin-2.Physiology, phylogeny, and functions of the TRP superfamily of cation channels.Structural model of the TRPP2/PKD1 C-terminal coiled-coil complex produced by a combined computational and experimental approach.Function and regulation of primary cilia and intraflagellar transport proteins in the skeletonHepatocyte nuclear factor-1β: A regulator of kidney development and cystogenesisImplications of gene networks for understanding resilience and vulnerability in the kidney branching program.Calcium-induced conformational changes in C-terminal tail of polycystin-2 are necessary for channel gating.TRP channels in disease.Morphological and functional features of hepatic cyst epithelium in autosomal dominant polycystic kidney disease.The polycystin complex mediates Wnt/Ca(2+) signalling.Purinergic signaling in the lumen of a normal nephron and in remodeled PKD encapsulated cysts.The nanomechanics of polycystin-1 extracellular region.Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.An explicit formulation approach for the analysis of calcium binding to EF-hand proteins using isothermal titration calorimetry.Conditional mutation of Pkd2 causes cystogenesis and upregulates beta-catenin.Progress in ciliary ion channel physiology.Mouse models of polycystic kidney disease induced by defects of ciliary proteinsRole of cilia in normal pancreas function and in diseased states.The polycystic kidney disease-1 promoter is a target of the beta-catenin/T-cell factor pathway.Loss of apical monocilia on collecting duct principal cells impairs ATP secretion across the apical cell surface and ATP-dependent and flow-induced calcium signals.Regulation and function of the TAZ transcription co-activator.Extracellular Loops Are Essential for the Assembly and Function of Polycystin Receptor-Ion Channel Complexes.Tissue-specific expression and splicing of the rat polycystic kidney disease 1 gene.Cation channel regulation by COOH-terminal cytoplasmic tail of polycystin-1: mutational and functional analysis.Identification and Expression Analysis of the Complete Family of Zebrafish pkd Genes.Atypical calcium regulation of the PKD2-L1 polycystin ion channel.High molecular mass egg fucose sulfate polymer is required for opening both Ca2+ channels involved in triggering the sea urchin sperm acrosome reaction.Assignment of more than one gene to the same chromosome band on metaphase cytogenetics.Polycystin-2 is an essential ion channel subunit in the primary cilium of the renal collecting duct epithelium.
P2860
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P2860
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
description
2000 nî lūn-bûn
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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2000 թվականի հունվարին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
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2000年論文
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2000年论文
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name
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
@ast
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
@en
type
label
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
@ast
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
@en
prefLabel
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
@ast
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
@en
P356
P1476
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
@en
P356
10.1006/MGME.1999.2943
P577
2000-01-01T00:00:00Z