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4 articles related to "Renal Ciliopathy"

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Articles

Review

Published on 05 Jan 2018

Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

in Pediatric Nephrology

Shalabh Srivastava
Elisa Molinari
Shreya Raman
John A. Sayer

Frontiers in Pediatrics

doi 10.3389/fped.2017.00287

42,415 views
130 citations

Original Research

Published on 10 Aug 2023

Fetal renal cystic disease and post-natal follow up—a single center experience

in Pediatric Nephrology

Lorena Botero-Calderon
Anne Lawrence
Natalie O’Toole
Lisa M. Guay-Woodford

Frontiers in Pediatrics

doi 10.3389/fped.2023.1243504

5,395 views
3 citations

Original Research

Published on 26 Jun 2024

Patient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation

in Stem Cell Research

Yutaka Arai
Hidenori Ito
Tomoya Shimizu
Yuzuno Shimoda
Dan Song
Mami Matsuo-Takasaki
Tadayoshi Hayata
Yohei Hayashi

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2024.1370723

6,086 views
10 citations

Perspective

Published on 07 May 2018

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

in Pediatric Nephrology

Kirsten Y. Renkema
Rachel H. Giles
Marc R. Lilien
Philip L. Beales
Ronald Roepman
Machteld M. Oud
Heleen H. Arts
Nine V. A. M. Knoers

Frontiers in Pediatrics

doi 10.3389/fped.2018.00131

4,292 views
5 citations