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Analysis of polycystin-1 (PC1) indicates that humans, but not mice, have a smaller than expected protein product, which we call Trunc_PC1. The findings show that Trunc_PC1 is the protein product of abnormal differential splicing across introns 21 and 22 and that 28.8%-61.5% of PKD1 transcripts terminate early.
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We found that the inhibitory Galphai3 protein selectively bound to the G-protein-binding domain on the C-terminus of PC1. The dissociation of Galphai3 upon cleavage of PC1 increased TRPC4 activity
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Significant phenotypic differences were observed among the various types of PKD1 mutations in Han Chinese patients with autosomal dominant polycystic kidney disease.
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New reports reveal the emergence of polycystins (polycystin-1, PC1; and polycystin-2, PC2) as key proteins that facilitate the transduction of mechano-induced signals in various clinical entities besides polycystic kidney disease, such as cancer, cardiovascular defectsbone loss, and deformations, as well as inflammatory processes like psoriasis. [review]
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A Czech family with autosomal dominant polycystic kidney disease is reported to have a co-inheritance of PKD1 and PKD2 pathogenic variants.
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structure of the complex of PC1 and PC2 and its interaction domains
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Study highlighted the clinical characteristics of individuals with autosomal dominant polycystic kidney disease (ADPKD) in Tunisia. Direct sequencing revealed three novels mutations i.e. p.S463C exon 7; c. c.11156+2T>C IVS38 and c.8161-1G>A IVS22 and two previously reported c.1522T>C exon 7 and c.412C>T exon 4 mutations in the PKD1 gene.
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show that PC1 and PC2 are expressed in radial glial cells of the developing mouse cerebral cortex during neurogenesis
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Involvement of PC1-regulated eIF2alpha phosphorylation and a PKR-eIF2alpha pathway in cell apoptosis may be an important part of the mechanism underlying ADPKD pathogenesis.
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Results found PC1 exhibiting decreased expression in human psoriatic lesions. In vitro, PC1 downregulation activates the mTOR pathway in keratinocytes in an ERK-dependent manner
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A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family.
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Novel mutations of PKD1 and PKD2 genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction have been described.
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Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.
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Expression of PC1DeltaL and PC2 complexes in transfected CHO cells failed to support PC2 channel activity, suggesting that the role of PC1 is to activate G-protein signaling to regulate the PC1/PC2 calcium channel.
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Our study has identified PKD1 as a frequently downregulated gene in HNSCC, and functionally, under certain cellular context, may play a role in GRP/bombesin-induced oncogenesis in HNSCC.
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Data found that MTA1 is a PKD1-interacting substrate, and that PKD1 phosphorylates MTA1, supports its nucleus-to-cytoplasmic redistribution and utilizes its N-terminal and kinase domains to effectively inhibit the levels of MTA1 via polyubiquitin-dependent proteosomal degradation.
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Two novel mutations, c.6953_6977del and c.10937T>G (p.Val3646Gly) of the PKD1 gene are associated with the polycystic kidney disease.
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this study reports the 3.6-angstrom cryo-electron microscopy structure of truncated human PKD1-PKD2 complex assembled in a 1:3 ratio.
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VEGF/PKD-1 signaling axis increases angiogenic and arteriogenic gene expression. These studies suggest that the axis may regulate arteriolar differentiation through changing microvascular endothelial cells gene expression.
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The novel frameshift mutations reported by this study are p. Q1997X, P. D73X and p. V336X.