ArticleJournal of the American Society of Nephrology : JASN2017
Targeted Exome Sequencing Identifies
Article in Journal of the American Society of Nephrology : JASN, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
What it found
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Who cites it
65 citing papers in PubMed, 117 citations in OpenAlex.
- The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population.Pediatric nephrology (Berlin, Germany) · 2026Article
- Minigene-based splicing analysis uncovers pathogenic splice-altering effects of PAX2.BMC pediatrics · 2026Article
- Functional Validation of a Novel <italic>PBX1</italic> Missense Variant in a 46,XY Girl.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- Functional Characterization of a NovelGenes · 2025Article
- Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract andKidney international reports · 2025Article
- A de novo SALL4 mutation causes unilateral renal agenesis by misregulating genes involved in kidney development.Orphanet journal of rare diseases · 2025Article
- Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract.European journal of human genetics : EJHG · 2025Article
- A rare PBX1 variant identified in adulthood: a case report.Frontiers in medicine · 2025Article
- Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.NPJ genomic medicine · 2024Article
- Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT).Pediatric nephrology (Berlin, Germany) · 2024Review
- Comprehensive summary: the role of PBX1 in development and cancers.Frontiers in cell and developmental biology · 2024Review
- Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.Kidney international reports · 2023Article
- Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.European journal of human genetics : EJHG · 2023Article
- Article
- Hedgehog-GLI mediated control of renal formation and malformation.Frontiers in nephrology · 2023Review
- Overexpression of long noncoding RNAFrontiers in cell and developmental biology · 2023Article
- Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.Human genetics · 2023Article
- Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene.Molecular cytogenetics · 2022Article
- Rac1 deficiency impairs postnatal development of the renal papilla.Scientific reports · 2022Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
25 authors at 13 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000 live births, represent about 20% of the prenatally detected anomalies, and constitute the main cause of CKD in children. These disorders are phenotypically and genetically heterogeneous. Monogenic causes of CAKUT in humans and mice have been identified. However, despite high-throughput sequencing studies, the cause of the disease remains unknown in most patients, and several studies support more complex inheritance and the role of environmental factors and/or epigenetics in the pathophysiology of CAKUT. Here, we report the targeted exome sequencing of 330 genes, including genes known to be involved in CAKUT and candidate genes, in a cohort of 204 unrelated patients with CAKUT; 45% of the patients were severe fetal cases. We identified pathogenic mutations in 36 of 204 (17.6%) patients. These mutations included five
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.