Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.E1537*
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PKD1

NM_001009944.3:p.E1537*

Associated Papers

Fundamental insights into autosomal dominant polycystic kidney disease from human-based cell models.

Weydert C et al.

Pediatric Nephrology (berlin, Germany), 2019

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

He WB et al.

Bmc Medical Genetics, 2018

Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation.

Streets AJ et al.

Human Molecular Genetics, 2013

Hyperproliferation of PKD1 cystic cells is induced by insulin-like growth factor-1 activation of the Ras/Raf signalling system.

Parker E et al.

Kidney International, 2007

Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling.

Xu C et al.

American Journal of Physiology. Renal Physiology, 2007

Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue.

Ong AC et al.

Kidney International, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."