Characterization of Novel Truncated Variants Identified From Indian Autosomal Dominant Polycystic Kidney Disease Cases

Autosomal Dominant ◽

Polycystic Kidney ◽

Truncated Variants

Isolation and Characterization of a Candidate Gene for Autosomal-Dominant Polycystic Kidney Disease

Contributions to Nephrology - Polycystic Kidney Disease ◽

10.1159/000421649 ◽

2015 ◽

pp. 110-117

Author(s):

Sharon L. Graw ◽

Martin Schalling ◽

David Housman ◽

David F. Callen ◽

Kathy Klinger ◽

...

Keyword(s):

Kidney Disease ◽

Candidate Gene ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Isolation And Characterization ◽

Faculty Opinions recommendation of Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.737295524.793573355 ◽

2020 ◽

Author(s):

Mike Eccles

Keyword(s):

Kidney Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Faculty Opinions recommendation of Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1148105.605227 ◽

2009 ◽

Author(s):

Albert Ong

Keyword(s):

Kidney Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Contiguous Gene ◽

Large Rearrangements

Cardiovascular characterization of Pkd2+/LacZ mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2)

International Journal of Cardiology ◽

10.1016/j.ijcard.2006.09.013 ◽

2007 ◽

Vol 120 (2) ◽

pp. 158-166 ◽

Cited By ~ 11

Author(s):

Jörg Stypmann ◽

Markus A. Engelen ◽

Stefan Orwat ◽

Konstantinos Bilbilis ◽

Markus Rothenburger ◽

...

Keyword(s):

Animal Model ◽

Kidney Disease ◽

Autosomal Dominant ◽

Disease Type ◽

Polycystic Kidney ◽

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

Frontiers in Genetics ◽

10.3389/fgene.2020.00464 ◽

2020 ◽

Vol 11 ◽

Cited By ~ 1

Author(s):

Vilma Mantovani ◽

Sofia Bin ◽

Claudio Graziano ◽

Irene Capelli ◽

Raffaella Minardi ◽

...

Keyword(s):

Kidney Disease ◽

Genetic Architecture ◽

Autosomal Dominant ◽

Large Cohort ◽

Panel Analysis ◽

Polycystic Kidney ◽

Novel Variants ◽

Characterization of the renal cyst fluid proteome in autosomal dominant polycystic kidney disease (ADPKD) patients

PROTEOMICS - CLINICAL APPLICATIONS ◽

10.1002/prca.200780140 ◽

2008 ◽

Vol 2 (7-8) ◽

pp. 1140-1152 ◽

Cited By ~ 37

Author(s):

Xianyin Lai ◽

Robert L. Bacallao ◽

Bonnie L. Blazer-Yost ◽

David Hong ◽

Stephen B. Mason ◽

...

Keyword(s):

Kidney Disease ◽

Autosomal Dominant ◽

Renal Cyst ◽

Cyst Fluid ◽

Polycystic Kidney ◽

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

Kidney International ◽

10.1038/ki.2008.485 ◽

2008 ◽

Vol 74 (11) ◽

pp. 1468-1479 ◽

Cited By ~ 83

Author(s):

Mark B. Consugar ◽

Wai C. Wong ◽

Patrick A. Lundquist ◽

Sandro Rossetti ◽

Vickie J. Kubly ◽

...

Keyword(s):

Kidney Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Contiguous Gene ◽

Large Rearrangements

Characterization of the Nuclear Factor (Erythroid‐Derived 2)‐Like 2 (NRF2) Response in Autosomal Dominant Polycystic Kidney Disease (ADPKD)

The FASEB Journal ◽

10.1096/fasebj.2020.34.s1.05945 ◽

2020 ◽

Vol 34 (S1) ◽

pp. 1-1

Author(s):

Jared Lutsic ◽

Ali Tug ◽

Alexis Adrian ◽

Vicente Torres ◽

Maria V. Irazabal

Keyword(s):

Kidney Disease ◽

Autosomal Dominant ◽

Nuclear Factor ◽

Polycystic Kidney ◽

Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease

Kidney International ◽

10.1016/j.kint.2019.08.038 ◽

2020 ◽

Vol 97 (2) ◽

pp. 370-382 ◽

Cited By ~ 7

Author(s):

Katharina Hopp ◽

Emilie Cornec-Le Gall ◽

Sarah R. Senum ◽

Iris B.A.W. te Paske ◽

Sonam Raj ◽

...

Keyword(s):

Kidney Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Echocardiographic findings in kidney transplant patients with autosomal dominant polycystic kidney disease

Scandinavian Journal of Urology and Nephrology ◽

10.1080/00365590902972446 ◽

2009 ◽

pp. 1-4

Author(s):

Henrik Hadimeri ◽

Kenneth Caidahl ◽

Odd Bech-Hanssen ◽

Gudrun Nyberg

Keyword(s):

Kidney Disease ◽

Kidney Transplant ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Transplant Patients ◽

Kidney Transplant Patients ◽

Echocardiographic Findings