Genetic and Kidney Cyst Diseases

TopicLeading institutions, researchers & key papers

This cluster of papers focuses on ciliopathies, a group of genetic disorders involving defects in primary cilia structure and function. It covers a range of topics including polycystic kidney disease, intraflagellar transport, hedgehog signaling, Bardet–Biedl syndrome, nephronophthisis, and the role of ciliary proteins. The research aims to understand the genetic mechanisms and signaling pathways underlying these disorders.

421

Works

IDs:OpenAlex

How has Genetic and Kidney Cyst Diseases's publication output changed over time?

ScholarIQpublication output · 2002–2018

Output grew0% over the shown period — from 1 works in 2002 to 1 in 2018.

2002200320042005200620072008201120122018

What are the most-cited papers on Genetic and Kidney Cyst Diseases?

ScholarIQmost cited works

Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease

Vicente E. Torres, Arlene B. Chapman, Olivier Devuyst, Ron T. Gansevoort, Jared J. Grantham, Eiji Higashihara, Ronald D. Perrone, Holly B. Krasa, John Ouyang, Frank S. Czerwiec

New England Journal of Medicine. 20121,606 CitationsOPEN ACCESS

Autosomal dominant polycystic kidney disease

Vicente E. Torres, Peter C. Harris, Yves Pirson

The Lancet. 20071,545 Citations

PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

Toshio Mochizuki, Guanqing Wu, Tomohito Hayashi, Stavroulla Xenophontos, Barbera Veldhuisen, Jasper J. Saris, David M. Reynolds, Yiqiang Cai, Patricia A. Gabow, Alkis Pierides, William J. Kimberling, Martijn H. Breuning, Constantinos Deltas, Dorien J.M. Peters, Stefan Somlo

Science. 19961,414 Citations

Ciliopathies

Friedhelm Hildebrandt, Thomas Benzing, Nicholas Katsanis

New England Journal of Medicine. 20111,366 CitationsOPEN ACCESS

When cilia go bad: cilia defects and ciliopathies

Manfred Fliegauf, Thomas Benzing, Heymut Omran

S196724125. 20071,301 Citations