Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations
Kamal Khan,Dina Ahram,Yangfan P. Liu,Rik Westland,Rosemary V. Sampogna,Nicholas Katsanis,Nicholas Katsanis,Nicholas Katsanis,Erica E. Davis,Erica E. Davis,Erica E. Davis,Simone Sanna-Cherchi +11 more
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TLDR
In this article, the authors review recent multidisciplinary approaches at the intersection of genetics, genomics, in-vivo modeling, and in vitro systems toward refining a blueprint for overcoming the diagnostic hurdles that are pervasive in urinary tract malformation cohorts.About:
This article is published in Kidney International.The article was published on 2021-11-12 and is currently open access. It has received 8 citations till now. The article focuses on the topics: Penetrance & Blueprint.read more
Citations
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Journal ArticleDOI
The Prevalence and Clinical Significance of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants
Thomas Hays,Michaela V. Thompson,David A. Bateman,Rakesh Sahni,Veeral N. Tolia,Reese H. Clark,Ali G. Gharavi +6 more
TL;DR: It is suggested that preterm infants with any form of CAKUT, including isolated urinary tract dilation, are at greater risk of death and severe illness, and may benefit from genetic evaluation.
Journal ArticleDOI
The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology
Jacqueline Soraru,Sadia Jahan,Catherine Quinlan,Cas Simons,Louise Wardrop,Rosie O’Shea,Alasdair Wood,Amali Mallawaarachchi,Chirag Patel,Zornitza Stark,Andrew Mallett +10 more
TL;DR: The proportion of genetic diagnoses amongst patients with kidney failure of unknown aetiology, using whole genome sequencing (WGS) is determined, to determine the proportion of patients who receive a molecular diagnosis via WGS compared with usual -care.
Journal ArticleDOI
Modelling human lower urinary tract malformations in zebrafish
TL;DR: In this paper , the authors used the Danio rerio model organism for the lower urinary tract (LUTO) malformation and showed that using the zebrafish enables rapid and efficient investigation of candidate genes derived from human data, but also cautiously allows transferability of causality from a nonmammalian vertebrate to humans.
Journal ArticleDOI
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
TL;DR: In this paper , a comprehensive genomic screening study of 733 cases with three distinct COU subphenotypes revealed disease etiology in 10.0% of them, and no significant differences in the overall diagnostic yield among COU sub-phenotypes, with characteristic variable expressivity of several mutant genes.
Journal ArticleDOI
N6-Methyladenosine Methylomic Landscape of Ureteral Deficiency in Reflux Uropathy and Obstructive Uropathy
Hua Shi,Tianchao Xiang,Jia-Yan Feng,Xue Yang,Yaqi Li,Linan Xu,Qi-wei Qi,Jian Shen,Liangfeng Tang,Qian Shen,Xinyang Wang,Hong Xu,Jia Rao +12 more
TL;DR: The current results highlight the pathogenesis of m6A methylation in obstructive and reflux uropathy in CAKUT.
References
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Journal ArticleDOI
Single cell census of human kidney organoids shows reproducibility and diminished off-target cells after transplantation.
Ayshwarya Subramanian,Eriene-Heidi Sidhom,Eriene-Heidi Sidhom,Maheswarareddy Emani,Katherine A. Vernon,Katherine A. Vernon,Nareh Sahakian,Yiming Zhou,Yiming Zhou,Maria Kost-Alimova,Michal Slyper,Julia Waldman,Danielle Dionne,Lan Nguyen,Astrid Weins,Jamie L. Marshall,Orit Rozenblatt-Rosen,Aviv Regev,Aviv Regev,Anna Greka,Anna Greka +20 more
TL;DR: This work shows how single cell RNA-seq (scRNA-seq) can score organoids for reproducibility, faithfulness and quality, that kidney organoids derived from different iPSC lines are comparable surrogates for human kidney, and that transplantation enhances their formation by diminishing off-target cells.
Journal ArticleDOI
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Miguel Verbitsky,Rik Westland,Alejandra Perez,Krzysztof Kiryluk,Qingxue Liu,Priya Krithivasan,Adele Mitrotti,David Fasel,Ekaterina Batourina,Matthew G. Sampson,Monica Bodria,Max Werth,Charlly Kao,Jeremiah Martino,Valentina P Capone,Asaf Vivante,Asaf Vivante,Shirlee Shril,Byum Hee Kil,Maddalena Marasa,Jun Zhang,Young Ji Na,Tze Y Lim,Dina Ahram,Patricia L. Weng,Erin L. Heinzen,Alba Carrea,Giorgio Piaggio,Loreto Gesualdo,Valeria Manca,Giuseppe Masnata,Maddalena Gigante,Daniele Cusi,Claudia Izzi,Francesco Scolari,Joanna A.E. van Wijk,Marijan Saraga,Domenico Santoro,Giovanni Conti,Pasquale Zamboli,Hope White,Dorota Drozdz,Katarzyna Zachwieja,Monika Miklaszewska,Marcin Tkaczyk,Daria Tomczyk,Anna Krakowska,Przemysław Sikora,Tomasz Jarmoliński,Maria K Borszewska-Kornacka,Robert Pawluch,Maria Szczepańska,Piotr Adamczyk,Małgorzata Mizerska-Wasiak,Grażyna Krzemień,Agnieszka Szmigielska,Marcin Zaniew,Mark G Dobson,John M Darlow,Prem Puri,David E. Barton,David E. Barton,Susan L. Furth,Bradley A. Warady,Zoran Gucev,Vladimir J Lozanovski,Vladimir J Lozanovski,Velibor Tasic,Isabella Pisani,Landino Allegri,Lida Rodas,Josep M. Campistol,Cécile Jeanpierre,Shumyle Alam,Pasquale Casale,Pasquale Casale,Craig S. Wong,Fangming Lin,Débora Marques de Miranda,Eduardo A. Oliveira,Ana Cristina Simões-e-Silva,Jonathan Barasch,Brynn Levy,Nan Wu,Nan Wu,Friedhelm Hildebrandt,Gian Marco Ghiggeri,Anna Latos-Bielenska,Anna Materna-Kiryluk,Feng Zhang,Hakon Hakonarson,Virginia E. Papaioannou,Cathy Mendelsohn,Ali G. Gharavi,Simone Sanna-Cherchi +94 more
TL;DR: Genome-wide analysis of copy number variants in 2,824 cases across the phenotypic spectrum of CAKUT sheds light on the genomic architecture of disease and identifies TBX6 as a driver forCAKUT subphenotypes in the 16p11.2 microdeletion syndrome.
Journal ArticleDOI
Evidence that bone morphogenetic protein 4 has multiple biological functions during kidney and urinary tract development.
Yoichi Miyazaki,Keisuke Oshima,Keisuke Oshima,Agnes B. Fogo,Agnes B. Fogo,Iekuni Ichikawa,Iekuni Ichikawa +6 more
TL;DR: BMP4 prevents cell death and promotes the growth of the metanephric mesenchyme, and can serve as a chemoattractant for periureteral mesenchymal cells and induce locally the smooth muscle layer of the ureter at Bmp4-expressing sites.
Journal ArticleDOI
Transcript expression-aware annotation improves rare variant interpretation
Beryl B. Cummings,Beryl B. Cummings,Konrad J. Karczewski,Konrad J. Karczewski,Jack A. Kosmicki,Jack A. Kosmicki,Eleanor G. Seaby,Eleanor G. Seaby,Nicholas A. Watts,Nicholas A. Watts,Moriel Singer-Berk,Jonathan M. Mudge,Juha Karjalainen,Juha Karjalainen,F. Kyle Satterstrom,F. Kyle Satterstrom,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Timothy Poterba,Timothy Poterba,Cotton Seed,Cotton Seed,Matthew Solomonson,Matthew Solomonson,Jessica Alföldi,Jessica Alföldi,Genome Aggregation Database Production Team,Genome Aggregation Database Production Team,Mark J. Daly,Mark J. Daly,Daniel G. MacArthur +31 more
TL;DR: A novel variant annotation metric that quantifies the level of expression of genetic variants across tissues is validated in the Genome Aggregation Database (gnomAD) and is shown to improve rare variant interpretation.
Journal ArticleDOI
Renal injury in children with a solitary functioning kidney--the KIMONO study
Rik Westland,Michiel F. Schreuder,Arend Bökenkamp,Marieke D. Spreeuwenberg,Joanna A.E. van Wijk +4 more
TL;DR: This large cohort study demonstrates that renal injury is present in children with an SFK at a young age, whereas longitudinal models show an increased risk for chronic kidney disease in adulthood.
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