Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms-Reference-Cited by-同舟云学术

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Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms

Published:2018-05 Issue:5 Volume:102 Page:816-831
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Forbes Thomas A.,Howden Sara E.,Lawlor Kynan,Phipson Belinda,Maksimovic Jovana,Hale Lorna,Wilson Sean,Quinlan Catherine,Ho Gladys,Holman Katherine,Bennetts Bruce,Crawford Joanna,Trnka Peter,Oshlack Alicia,Patel Chirag,Mallett Andrew,Simons Cas,Little Melissa H.

Funder

National Health and Medical Research Council of Australia

Kidney Health Australia

Royal Brisbane and Women's Hospital Foundation

Royal Children’s Hospital Foundation

Murdoch Children’s Research Institute

Victorian Government’s Operational Infrastructure Support Program

NHMRC Postgraduate Scholarship

RACP Jacquot Award

NHMRC

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference77 articles.

1. The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia;Mallett;Orphanet J. Rare Dis.,2014

2. Prevalence of genetic renal disease in children;Fletcher;Pediatr. Nephrol.,2013

3. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy;Otto;J. Med. Genet.,2011

4. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders;Mallett;Kidney Int.,2017

5. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy;Halbritter;Hum. Genet.,2013

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