Associated Papers
Two closely spaced missense PKD1 variants in cis cause autosomal dominant polycystic kidney disease in a Chinese family.
Zhang H et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
ADPKD-Causing Missense Variants in Polycystin-1 Disrupt Cell Surface Localization or Polycystin Channel Function.
Ha K et al.
Biorxiv : the Preprint Server for Biology, 2024
Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia.
Brandes D et al.
Hemasphere, 2023
ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.
Seidel P et al.
Jci Insight, 2022
A common intronic single nucleotide variant modifies PKD1 expression level.
Zhang Z et al.
Clinical Genetics, 2022
Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.
Hosseinpour M et al.
Archives of Iranian Medicine, 2022
Mechanism of tethered agonist-mediated signaling by polycystin-1.
Pawnikar S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.
Ali H et al.
Scientific Reports, 2019
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Borràs DM et al.
Human Mutation, 2017
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P et al.
Scientific Reports, 2016
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
Eisenberger T et al.
Plos One, 2015
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Bataille S et al.
Bmc Nephrology, 2011
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Tan YC et al.
Human Mutation, 2009
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
Peltola P et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
McCluskey M et al.
Human Mutation, 2002
Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
Koptides M et al.
Human Mutation, 2000
Novel mutations in the duplicated region of PKD1 gene.
Perrichot R et al.
European Journal of Human Genetics : Ejhg, 2000
Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.
Afzal AR et al.
Genetic Testing, 2000