- Home
- Publications
- Publication Search
- Publication Details
Title
Genetic, environmental and epigenetic factors involved in CAKUT
Authors
Keywords
-
Journal
Nature Reviews Nephrology
Volume 11, Issue 12, Pages 720-731
Publisher
Springer Nature
Online
2015-08-18
DOI
10.1038/nrneph.2015.140
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Maternal Diabetes Mellitus and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) in the Child
- (2015) Allison B. Dart et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Renal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signaling
- (2015) Lorine J. Wilkinson et al. KIDNEY INTERNATIONAL
- Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
- (2014) Camille Humbert et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genomic and Epigenomic Analyses of Monozygotic Twins Discordant for Congenital Renal Agenesis
- (2014) Meiling Jin et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Associated nonurinary congenital anomalies among infants with congenital anomalies of kidney and urinary tract (CAKUT)
- (2014) Claude Stoll et al. European Journal of Medical Genetics
- The effect of genotype and in utero environment on interindividual variation in neonate DNA methylomes
- (2014) A. L. Teh et al. GENOME RESEARCH
- Mild Recessive Mutations in Six Fraser Syndrome-Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract
- (2014) S. Kohl et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Prenatal Risk Factors for Childhood CKD
- (2014) C. W. Hsu et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
- (2014) Daw-Yang Hwang et al. KIDNEY INTERNATIONAL
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen et al. NATURE
- Whole-genome sequence variation, population structure and demographic history of the Dutch population
- (2014) Laurent C Francioli et al. NATURE GENETICS
- Association of angiotensin type 2 receptor gene polymorphisms with ureteropelvic junction obstruction in Brazilian patients
- (2014) Debora M Miranda et al. NEPHROLOGY
- MMP-1 and -3 haplotype is associated with congenital anomalies of the kidney and urinary tract
- (2014) Tamara Djuric et al. PEDIATRIC NEPHROLOGY
- Copy-number variation associated with congenital anomalies of the kidney and urinary tract
- (2014) Georgina Caruana et al. PEDIATRIC NEPHROLOGY
- Demographics of paediatric renal replacement therapy in Europe: a report of the ESPN/ERA–EDTA registry
- (2014) Nicholas Chesnaye et al. PEDIATRIC NEPHROLOGY
- Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans
- (2014) Asaf Vivante et al. PEDIATRIC NEPHROLOGY
- Renal branching morphogenesis: Morphogenetic and signaling mechanisms
- (2014) Joshua Blake et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Epigenetics of discordant monozygotic twins: implications for disease
- (2014) Juan E Castillo-Fernandez et al. Genome Medicine
- Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease
- (2014) Wigard P Kloosterman et al. Molecular Cytogenetics
- SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
- (2013) Andrew Dauber et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes
- (2013) L. Madariaga et al. Clinical Journal of the American Society of Nephrology
- Human diseases caused by germline and somatic abnormalities in microRNA and microRNA-related genes
- (2013) Yukio Kawahara CONGENITAL ANOMALIES
- An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations
- (2013) Anneke T. Vulto-van Silfhout et al. European Journal of Medical Genetics
- Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain
- (2013) Hong Li et al. HUMAN MOLECULAR GENETICS
- Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing
- (2013) Joep de Ligt et al. HUMAN MUTATION
- Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract
- (2013) Geisilaine Soares dos Reis et al. Jornal de Pediatria
- Conditional loss of kidney microRNAs results in congenital anomalies of the kidney and urinary tract (CAKUT)
- (2013) Malte P. Bartram et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- Renal Hypodysplasia Associates with a Wnt4 Variant that Causes Aberrant Canonical Wnt Signaling
- (2013) A. Vivante et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
- (2013) Pawaree Saisawat et al. KIDNEY INTERNATIONAL
- Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
- (2013) Michael N Weedon et al. NATURE GENETICS
- Mutations in DSTYK and Dominant Urinary Tract Malformations
- (2013) S. Sanna-Cherchi et al. NEW ENGLAND JOURNAL OF MEDICINE
- The Database of Genomic Variants: a curated collection of structural variation in the human genome
- (2013) Jeffrey R. MacDonald et al. NUCLEIC ACIDS RESEARCH
- High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT
- (2013) Burcu Bulum et al. PEDIATRIC NEPHROLOGY
- miR-17 92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease
- (2013) V. Patel et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Cytosine methylation changes in enhancer regions of core pro-fibrotic genes characterize kidney fibrosis development
- (2013) Yi-An Ko et al. GENOME BIOLOGY
- A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development
- (2013) J. M. Darlow et al. Molecular Genetics & Genomic Medicine
- Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
- (2012) Simone Sanna-Cherchi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Timing and Outcome of Renal Replacement Therapy in Patients with Congenital Malformations of the Kidney and Urinary Tract
- (2012) E. Wuhl et al. Clinical Journal of the American Society of Nephrology
- A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome
- (2012) Julia Hoefele et al. European Journal of Medical Genetics
- Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations
- (2012) Rajshekhar Chatterjee et al. HUMAN GENETICS
- DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders
- (2012) G. J. Swaminathan et al. HUMAN MOLECULAR GENETICS
- Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease
- (2012) Scott Smemo et al. HUMAN MOLECULAR GENETICS
- Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience
- (2012) Erin Rooney Riggs et al. HUMAN MUTATION
- Mutations inGRIP1cause Fraser syndrome
- (2012) Maartje J Vogel et al. JOURNAL OF MEDICAL GENETICS
- MicroRNAs Regulate Renal Tubule Maturation through Modulation of Pkd1
- (2012) V. Patel et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients
- (2012) Albertien M. van Eerde et al. PLoS One
- Contribution of Rare Copy Number Variants to Isolated Human Malformations
- (2012) Clara Serra-Juhé et al. PLoS One
- SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome
- (2012) Naresh Kumar Hanchate et al. PLoS Genetics
- Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome
- (2011) Stefanie Weber et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Refining transcriptional programs in kidney development by integration of deep RNA-sequencing and array-based spatial profiling
- (2011) Rathi D Thiagarajan et al. BMC GENOMICS
- JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome
- (2011) K Guegan et al. CLINICAL GENETICS
- Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
- (2011) Olivier Gribouval et al. HUMAN MUTATION
- Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia
- (2011) Marine R.-C. Kraus et al. HUMAN MUTATION
- LOVD v.2.0: the next generation in gene variant databases
- (2011) Ivo F. A. C. Fokkema et al. HUMAN MUTATION
- Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
- (2011) Matthew Bower et al. HUMAN MUTATION
- NOTCH2mutations in Alagille syndrome
- (2011) Binita Maya Kamath et al. JOURNAL OF MEDICAL GENETICS
- Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis
- (2011) Pawaree Saisawat et al. KIDNEY INTERNATIONAL
- Increased exonic de novo mutation rate in individuals with schizophrenia
- (2011) Simon L Girard et al. NATURE GENETICS
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort
- (2011) Rosemary Thomas et al. PEDIATRIC NEPHROLOGY
- Mutations in HPSE2 Cause Urofacial Syndrome
- (2010) Sarah B. Daly et al. AMERICAN JOURNAL OF HUMAN GENETICS
- LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
- (2010) Yun Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Unilateral renal aplasia in X-linked Kallmann's syndrome
- (2010) J. M. W. Kirk et al. CLINICAL GENETICS
- Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases
- (2010) L. Heidet et al. Clinical Journal of the American Society of Nephrology
- Prenatal exposure to maternal depression, neonatal methylation of human glucocorticoid receptor gene (NR3C1) and infant cortisol stress responses
- (2010) Tim F. Oberlander et al. Epigenetics
- Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract
- (2010) Stefania Gimelli et al. HUMAN MUTATION
- Nonsense Mutations inFGF8Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency
- (2010) Ericka B. Trarbach et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Epigenetic Histone Methylation Modulates Fibrotic Gene Expression
- (2010) G. Sun et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Common variants in DGKK are strongly associated with risk of hypospadias
- (2010) Loes F M van der Zanden et al. NATURE GENETICS
- New loci associated with kidney function and chronic kidney disease
- (2010) Anna Köttgen et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- Fetal environment, epigenetics, and pediatric renal disease
- (2010) Robert Woroniecki et al. PEDIATRIC NEPHROLOGY
- Kif26b, a kinesin family gene, regulates adhesion of the embryonic kidney mesenchyme
- (2010) Y. Uchiyama et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans
- (2010) G. Genovese et al. SCIENCE
- Altering a Histone H3K4 Methylation Pathway in Glomerular Podocytes Promotes a Chronic Disease Phenotype
- (2010) Gaelle M. Lefevre et al. PLoS Genetics
- FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome
- (2009) Anas M. Alazami et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss of Heterozygosity at 2q37 in Sporadic Wilms' Tumor: Putative Role for miR-562
- (2009) K. M. Drake et al. CLINICAL CANCER RESEARCH
- Whole-Genome Linkage and Association Scan in Primary, Nonsyndromic Vesicoureteric Reflux
- (2009) H. J. Cordell et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- A Recessive Gene for Primary Vesicoureteral Reflux Maps to Chromosome 12p11-q13
- (2009) P. L. Weng et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- MicroRNA-17 post-transcriptionally regulates polycystic kidney disease-2 gene and promotes cell proliferation
- (2009) Huan Sun et al. MOLECULAR BIOLOGY REPORTS
- Multiple loci associated with indices of renal function and chronic kidney disease
- (2009) Anna Köttgen et al. NATURE GENETICS
- Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss
- (2009) Ángeles Mencía et al. NATURE GENETICS
- Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24
- (2009) S. Ashraf et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Functional analysis of BMP4 mutations identified in pediatric CAKUT patients
- (2009) Mansoureh Tabatabaeifar et al. PEDIATRIC NEPHROLOGY
- Renal Aplasia in Humans Is Associated with RET Mutations
- (2008) Michael A. Skinner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Vesicoureteral Reflux
- (2008) G. Williams et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux
- (2008) A. M. Bertoli-Avella et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- SIX2 and BMP4 Mutations Associate With Anomalous Kidney Development
- (2008) S. Weber et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Podocyte-Specific Loss of Functional MicroRNAs Leads to Rapid Glomerular and Tubular Injury
- (2008) J. Ho et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
- (2008) Sheila Unger et al. NATURE GENETICS
- RNA-Seq: a revolutionary tool for transcriptomics
- (2008) Zhong Wang et al. NATURE REVIEWS GENETICS
- Renal tract malformations: perspectives for nephrologists
- (2008) Larissa Kerecuk et al. Nature clinical practice. Nephrology
- Dysplastic kidneys
- (2007) Paul Winyard et al. Seminars in Fetal & Neonatal Medicine
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now