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.
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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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Recessive mutations in CAKUT and VACTERL association
TL;DR: Hemozygosity mapping coupled with next-generation sequencing is used to identify recessive mutations in TRAP1 in families with isolated CAKUT and with VACTERL association and points to a novel player in kidney development, possibly affecting apoptosis and endoplasmic reticulum stress signaling.
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Company Profile: Complete Genomics Inc.
TL;DR: The company's Complete Genomics Analysis Platform (CGA™ Platform) comprises an integrated package of biochemistry, instrumentation and software that sequences human genomes at the highest quality, lowest cost and largest scale available.
Journal Article
Cardiovascular complications in patients with chronic renal insufficiency and chronic kidney failure
TL;DR: Therapeutic procedures in patients with a reduced renal function and chronic renal insufficiency have lower target blood pressure and should have also lower target values e.g. of serum cholesterol.
Journal ArticleDOI
Chromatin Regulation in Development: Current Understanding and Approaches.
TL;DR: Recently, single-cell approaches have revolutionized the field of developmental biology, allowing unprecedented insights into chromatin structure and interactions in early lineage segregation events during differentiation as mentioned in this paper, and they have furthered our understanding of chromatin regulation during early differentiation events.
Journal Article
Genetic Basis of Congenital Anomalies of the Kidney and Urinary Tract
TL;DR: Results from micro-array study have demonstrated that rare structural variants are an important source of genetic variation in patients with CAKUT, implicate the kidney and urinary tract as new possible sentinels for other diseases that develop later in life, bearing strong implications for personalized medicine.
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