Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 35, Issue 12, Pages 1393-1406
Publisher
Wiley
Online
2014-09-29
DOI
10.1002/humu.22708
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease
- (2017) Zhendi Wang et al. KIDNEY & BLOOD PRESSURE RESEARCH
- Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease
- (2014) Lena Obeidova et al. BMC Medical Genetics
- Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism
- (2014) A.Y. Tan et al. CLINICAL GENETICS
- A comprehensive search for mutations in thePKD1andPKD2in Japanese subjects with autosomal dominant polycystic kidney disease
- (2014) M. Kurashige et al. CLINICAL GENETICS
- Filling the Holes in Cystic Kidney Disease Research
- (2014) L. M. Guay-Woodford et al. Clinical Journal of the American Society of Nephrology
- Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease
- (2014) Peter C. Harris et al. JOURNAL OF CLINICAL INVESTIGATION
- Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next-Generation Sequencing
- (2014) Adrian Y. Tan et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Predictors of Autosomal Dominant Polycystic Kidney Disease Progression
- (2014) R. W. Schrier et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease
- (2014) W. N. Leonhard et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management
- (2014) Wybrich R Cnossen et al. Orphanet Journal of Rare Diseases
- Two novel mutations affecting the same splice site ofPKD1correlate with different phenotypes in ADPKD
- (2014) Chaowen Yu et al. RENAL FAILURE
- Polycystin-1: a master regulator of intersecting cystic pathways
- (2014) Sorin V. Fedeles et al. TRENDS IN MOLECULAR MEDICINE
- Digenic inheritance in medical genetics
- (2013) Alejandro A Schäffer JOURNAL OF MEDICAL GENETICS
- The Mutation, a Key Determinant of Phenotype in ADPKD
- (2013) P. C. Harris et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Type of PKD1 Mutation Influences Renal Outcome in ADPKD
- (2013) E. Cornec-Le Gall et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Cyst expansion and regression in a mouse model of polycystic kidney disease
- (2013) Hester Happé et al. KIDNEY INTERNATIONAL
- Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families
- (2013) Binu M. Paul et al. KIDNEY INTERNATIONAL
- Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease
- (2013) Rodney D. Gilbert et al. PEDIATRIC NEPHROLOGY
- Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele
- (2013) Jana Reiterová et al. BMC Nephrology
- Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
- (2012) Marie-Pierre Audrézet et al. HUMAN MUTATION
- Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity
- (2012) Katharina Hopp et al. JOURNAL OF CLINICAL INVESTIGATION
- Identification of Gene Mutations in Autosomal Dominant Polycystic Kidney Disease through Targeted Resequencing
- (2012) S. Rossetti et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Cystic kidney diseases: many ways to form a cyst
- (2012) Hannah Loftus et al. PEDIATRIC NEPHROLOGY
- Network Analysis of a Pkd1-Mouse Model of Autosomal Dominant Polycystic Kidney Disease Identifies HNF4α as a Disease Modifier
- (2012) Luis F. Menezes et al. PLoS Genetics
- On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease
- (2011) David N. Cooper et al. HUMAN MUTATION
- Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for aPKD2missense mutation due to uniparental disomy
- (2011) M Losekoot et al. JOURNAL OF MEDICAL GENETICS
- Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease
- (2011) C. Bergmann et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- A missense mutation in PKD1 attenuates the severity of renal disease
- (2011) York Pei et al. KIDNEY INTERNATIONAL
- A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation
- (2011) Sorin V Fedeles et al. NATURE GENETICS
- Molecular Advances in Autosomal Dominant Polycystic Kidney Disease
- (2010) Anna Rachel Gallagher et al. ADVANCES IN CHRONIC KIDNEY DISEASE
- Improved Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease in Denmark
- (2010) B. Orskov et al. Clinical Journal of the American Society of Nephrology
- What Is the Role of Somatic Mutation in Autosomal Dominant Polycystic Kidney Disease?
- (2010) P. C. Harris JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Genetic Variation of DKK3 May Modify Renal Disease Severity in ADPKD
- (2010) M. Liu et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD
- (2010) M. Vujic et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Molecular diagnostics for autosomal dominant polycystic kidney disease
- (2010) Peter C. Harris et al. Nature Reviews Nephrology
- Carboxy Terminal Tail of Polycystin-1 Regulates Localization of TSC2 to Repress mTOR
- (2010) Ruhee Dere et al. PLoS One
- Pkd2 Dosage Influences Cellular Repair Responses following Ischemia-Reperfusion Injury
- (2009) Sony Prasad et al. AMERICAN JOURNAL OF PATHOLOGY
- Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways
- (2009) H. Happe et al. HUMAN MOLECULAR GENETICS
- Pkd1 Haploinsufficiency Increases Renal Damage and Induces Microcyst Formation following Ischemia/Reperfusion
- (2009) A. P. Bastos et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
- (2009) Sandro Rossetti et al. KIDNEY INTERNATIONAL
- Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease
- (2008) G. V. Z. Dedoussis et al. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
- Polycystin-2 Expression Is Regulated by a PC2-binding Domain in the Intracellular Portion of Fibrocystin
- (2008) Ingyu Kim et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Influence of VEGF Polymorphism on Progression of Autosomal Dominant Polycystic Kidney Disease
- (2008) J. Reiterová et al. KIDNEY & BLOOD PRESSURE RESEARCH
- Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
- (2008) Mark B. Consugar et al. KIDNEY INTERNATIONAL
- Modifier Effect of the Glu298Asp Polymorphism of Endothelial Nitric Oxide Synthase Gene in Autosomal-Dominant Polycystic Kidney Disease
- (2008) N. Stefanakis et al. NEPHRON CLINICAL PRACTICE
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now