Literature DB >> 31419725

Renal ciliopathies.

Laura A Devlin1, John A Sayer2.   

Abstract

Renal ciliopathies are a group of disorders characterised by nephronophthisis, cystic kidneys or renal cystic dysplasia whose underlying disease pathogenesis is related to abnormal structure or function of the primary cilia complex. The number of renal ciliopathies continues to expand as genomic and genetic approaches identify novel causes. This in turn provides new opportunities to explore disease mechanisms and therapeutic approaches to target cystic kidney disease and other associated phenotypes. Here we review recent advances in the field of renal ciliopathies and how these allow new insights into this fascinating spectrum of diseases.
Copyright © 2019 Elsevier Ltd. All rights reserved.

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Year:  2019        PMID: 31419725     DOI: 10.1016/j.gde.2019.07.005

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  10 in total

Review 1.  Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases.

Authors:  Jiahui Zhang; Changming Zhang; Erzhi Gao; Qing Zhou
Journal:  Kidney Dis (Basel)       Date:  2021-09-29

2.  Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis.

Authors:  Silvia Kalantari; Isabel Filges
Journal:  Mol Syndromol       Date:  2021-08-26

Review 3.  Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.

Authors:  Marijn F Stokman; Sophie Saunier; Alexandre Benmerah
Journal:  Front Cell Dev Biol       Date:  2021-05-13

4.  Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Authors:  Simon A Ramsbottom; Peter E Thelwall; Katrina M Wood; Gavin J Clowry; Laura A Devlin; Flora Silbermann; Helena L Spiewak; Shirlee Shril; Elisa Molinari; Friedhelm Hildebrandt; Meral Gunay-Aygun; Sophie Saunier; Heather J Cordell; John A Sayer; Colin G Miles
Journal:  Proc Natl Acad Sci U S A       Date:  2019-12-26       Impact factor: 11.205

Review 5.  Targeting E3 Ubiquitin Ligases and Deubiquitinases in Ciliopathy and Cancer.

Authors:  Takashi Shiromizu; Mizuki Yuge; Kousuke Kasahara; Daishi Yamakawa; Takaaki Matsui; Yasumasa Bessho; Masaki Inagaki; Yuhei Nishimura
Journal:  Int J Mol Sci       Date:  2020-08-19       Impact factor: 5.923

6.  Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.

Authors:  Eric Olinger; Pran Phakdeekitcharoen; Yasar Caliskan; Sarah Orr; Holly Mabillard; Charles Pickles; Yincent Tse; Katrina Wood; John A Sayer
Journal:  Am J Med Genet C Semin Med Genet       Date:  2022-03-15       Impact factor: 3.359

7.  Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

Authors:  Jens Christian König; Rebeka Karsay; Joachim Gerß; Karl-Peter Schlingmann; Mareike Dahmer-Heath; Anna-Katharina Telgmann; Sabine Kollmann; Gema Ariceta; Valentine Gillion; Detlef Bockenhauer; Aurélia Bertholet-Thomas; Antonio Mastrangelo; Olivia Boyer; Marc Lilien; Stéphane Decramer; Joost P Schanstra; Martin Pohl; Raphael Schild; Stefanie Weber; Julia Hoefele; Jens Drube; Metin Cetiner; Matthias Hansen; Julia Thumfart; Burkhard Tönshoff; Sandra Habbig; Max Christoph Liebau; Martin Bald; Carsten Bergmann; Petra Pennekamp; Martin Konrad
Journal:  Kidney Int Rep       Date:  2022-06-16

Review 8.  Clear cell renal cell carcinoma ontogeny and mechanisms of lethality.

Authors:  Eric Jonasch; Cheryl Lyn Walker; W Kimryn Rathmell
Journal:  Nat Rev Nephrol       Date:  2020-11-03       Impact factor: 28.314

9.  Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5.

Authors:  Xiaoyuan Wang; Huijie Xiao; Yong Yao; Ke Xu; Xiaoyu Liu; Baige Su; Hongwen Zhang; Na Guan; Xuhui Zhong; Yanqin Zhang; Jie Ding; Fang Wang
Journal:  Front Genet       Date:  2021-07-06       Impact factor: 4.599

Review 10.  Clinical and genetic heterogeneity of primary ciliopathies (Review).

Authors:  Ina Ofelia Focșa; Magdalena Budișteanu; Mihaela Bălgrădean
Journal:  Int J Mol Med       Date:  2021-07-19       Impact factor: 4.101

  10 in total

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