Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies

Next-generation sequencing for detection of somatic mosaicism in autosomal dominant polycystic kidney disease

(2020) Olivier Devuyst et al.   KIDNEY INTERNATIONAL

Autosomal dominant polycystic kidney disease

(2019) Emilie Cornec-Le Gall et al.   LANCET

Crystal deposition triggers tubule dilation that accelerates cystogenesis in polycystic kidney disease

(2019) Jacob A. Torres et al.   JOURNAL OF CLINICAL INVESTIGATION

ALG9 Mutation Carriers Develop Kidney and Liver Cysts

(2019) Whitney Besse et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease

(2019) Katharina Hopp et al.   KIDNEY INTERNATIONAL

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

(2018) Emilie Cornec-Le Gall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease

(2018) Adrian Y. Tan et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing

(2018) Matthew B. Lanktree et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease

(2018) Matthew B Lanktree et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Molecular diagnosis of autosomal dominant polycystic kidney disease

(2017) Xuewen Song et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Isolated polycystic liver disease genes define effectors of polycystin-1 function

(2017) Whitney Besse et al.   JOURNAL OF CLINICAL INVESTIGATION

Polycystic Kidney Disease without an Apparent Family History

(2017) Ioan-Andrei Iliuta et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases

(2017) Emilie Cornec-Le Gall et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

(2017) Oscar Rubio Cabezas et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

New treatment paradigms for ADPKD: moving towards precision medicine

(2017) Matthew B. Lanktree et al.   Nature Reviews Nephrology

Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

(2016) Binu Porath et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence of autosomal dominant polycystic kidney disease in the European Union

(2016) Cynthia J. Willey et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

(2015) M.-P. Audrezet et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease

(2015) Y.-H. Hwang et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease

(2015) E. Cornec-Le Gall et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

(2015) Kai-Uwe Eckardt et al.   KIDNEY INTERNATIONAL

A polycystin-centric view of cyst formation and disease: the polycystins revisited

(2015) Albert C.M. Ong et al.   KIDNEY INTERNATIONAL

Somatic mosaicism: implications for disease and transmission genetics

(2015) Ian M. Campbell et al.   TRENDS IN GENETICS

Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease

(2014) Peter C. Harris et al.   JOURNAL OF CLINICAL INVESTIGATION

Imaging Classification of Autosomal Dominant Polycystic Kidney Disease: A Simple Model for Selecting Patients for Clinical Trials

(2014) M. V. Irazabal 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

Imaging-Based Diagnosis of Autosomal Dominant Polycystic Kidney Disease

(2014) Y. Pei et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Polycystin-1: a master regulator of intersecting cystic pathways

(2014) Sorin V. Fedeles et al.   TRENDS IN MOLECULAR MEDICINE

Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease

(2013) Ming Ma et al.   NATURE GENETICS

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

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

Renal injury is a third hit promoting rapid development of adult polycystic kidney disease

(2009) Ayumi Takakura et al.   HUMAN MOLECULAR GENETICS

Unified Criteria for Ultrasonographic Diagnosis of ADPKD

(2008) Y. Pei et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY