Genetic, environmental, and epigenetic factors involved in CAKUT

RNA-Seq: a revolutionary tool for transcriptomics

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Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21

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Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

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Epigenetics and the environment: emerging patterns and implications

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Genome structural variation discovery and genotyping

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ClinGen — The Clinical Genome Resource

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Prenatal exposure to maternal depression, neonatal methylation of human glucocorticoid receptor gene (NR3C1) and infant cortisol stress responses

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The Database of Genomic Variants: a curated collection of structural variation in the human genome

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

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Genome sequencing identifies major causes of severe intellectual disability

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LOVD v.2.0: the next generation in gene variant databases

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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

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Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY

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A de novo paradigm for mental retardation.

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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

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New loci associated with kidney function and chronic kidney disease

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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux

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Multiple loci associated with indices of renal function and chronic kidney disease

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Whole-genome sequence variation, population structure and demographic history of the Dutch population

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A High-Density Whole-Genome Association Study Reveals That APOE Is the Major Susceptibility Gene for Sporadic Late-Onset Alzheimer's Disease

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Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

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Increased exonic de novo mutation rate in individuals with schizophrenia

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SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

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Renal abnormalities and their developmental origin

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The mouse Pax2 1Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

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Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility

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Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.

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The effect of genotype and in utero environment on interindividual variation in neonate DNA methylomes

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Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

Heidet, L., Decramer, S., Pawtowski, A., Morinière, V., Bandin, F., Knebelmann, B., Lèbre, A.-S., Faguer, S., Guigonis, V., Antignac, C., et al. (2010) · Clinical Journal of the American Society of Nephrology · doi:10.2215/cjn.06810909 · Cited by 302 · see citing works

Requirement forPbx1in skeletal patterning and programming chondrocyte proliferation and differentiation

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Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

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Podocyte-Specific Loss of Functional MicroRNAs Leads to Rapid Glomerular and Tubular Injury

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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

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Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

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Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

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Malformations in newborn: results based on 30940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998)

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The BRCT-Domain Containing Protein PTIP Links PAX2 to a Histone H3, Lysine 4 Methyltransferase Complex

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Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

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Epigenetic Histone Methylation Modulates Fibrotic Gene Expression

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Timing and Outcome of Renal Replacement Therapy in Patients with Congenital Malformations of the Kidney and Urinary Tract

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Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

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Cytosine methylation changes in enhancer regions of core pro-fibrotic genes characterize kidney fibrosis development

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NOTCH2 mutations in Alagille syndrome

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SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

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SIX2 and BMP4 Mutations Associate With Anomalous Kidney Development

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Neonatal hydronephrosis in the era of sonography

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How They Begin and How They End

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Epigenetics of discordant monozygotic twins: implications for disease

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Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

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Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome

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Renal Aplasia in Humans Is Associated with RET Mutations

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Vesicoureteral Reflux

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miR-17∼92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease

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Adverse effects of hyperglycemia on kidney development in rats: in vivo and in vitro studies.

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LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani–Lenz syndrome

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Demographics of paediatric renal replacement therapy in Europe: a report of the ESPN/ERA–EDTA registry

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Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

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Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Ali, A., Christie, P. T., Grigorieva, I. V., Harding, B., Esch, H. V., Ahmed, S. F., Bitner-Glindzicz, M. A. K., BLIND, E., Bloch, C., Christin, P., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl454 · Cited by 153 · see citing works

Kallmann syndrome: 14 novel mutations in<i>KAL1</i>and<i>FGFR1</i>(<i>KAL2</i>): MUTATIONS IN BRIEF

Albuisson, J., Pêcheux, C., Carel, J.-C., Lacombe, D., Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., Matthijs, G., Wasniewska, M., et al. (2005) · Human Mutation · doi:10.1002/humu.9298 · Cited by 146 · see citing works

Deletions of chromosomal regulatory boundaries are associated with congenital disease

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Genetic approaches to human renal agenesis/hypoplasia and dysplasia

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HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

Thomas, R., Sanna‐Cherchi, S., Warady, B. A., Furth, S. L., Kaskel, F. J., & Gharavi, A. G. (2011) · Pediatric Nephrology · doi:10.1007/s00467-011-1826-9 · Cited by 134 · see citing works

Demographics of paediatric renal replacement therapy in Europe: 2007 annual report of the ESPN/ERA-EDTA registry

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Effects of dietary protein restriction on nephron number in the mouse

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Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Saisawat, P., Kohl, S., Hilger, A. C., Hwang, D., Gee, H. Y., Dworschak, G. C., Tasic, V. B., Pennimpede, T., NATARAJAN, S., Sperry, E. D., et al. (2013) · Kidney International · doi:10.1038/ki.2013.417 · Cited by 131 · see citing works

Prenatal Risk Factors for Childhood CKD

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Mutations in DSTYK and Dominant Urinary Tract Malformations

Sanna‐Cherchi, S., Sampogna, R. V., Papeta, N., Burgess, K. E., Nees, S. N., Perry, B. J., Choi, M., Bodria, M., Liu, Y., Weng, P. L., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1214479 · Cited by 128 · see citing works

Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial

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De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure

Jenkins, D., Bitner-Glindzicz, M. A. K., Malcolm, S., Hu, C. A., Allison, J., Winyard, P. J. D., Gullett, A. M., Thomas, D. F. M., Belk, R. A., Feather, S. A., et al. (2005) · Journal of the American Society of Nephrology · doi:10.1681/asn.2004090776 · Cited by 125 · see citing works

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis

Gribouval, O., Morinière, V., Pawtowski, A., Arrondel, C., Sallinen, S., Saloranta, C., Clericuzio, C. L., Viot, G., Tantau, J., Blesson, S., et al. (2011) · Human Mutation · doi:10.1002/humu.21661 · Cited by 124 · see citing works

Renal tract malformations: perspectives for nephrologists

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Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid

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Generation of patterned kidney organoids that recapitulate the adult kidney collecting duct system from expandable ureteric bud progenitors

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Renal development in the fetus and premature infant

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Developmental pathology of congenital kidney and urinary tract anomalies

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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

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The genetics and pathogenesis of CAKUT

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Genetic link between renal birth defects and congenital heart disease

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The contribution of branching morphogenesis to kidney development and disease

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The expanding phenotypic spectra of kidney diseases: insights from genetic studies

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DCDC2Mutations Cause Neonatal Sclerosing Cholangitis

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HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry

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Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract

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A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases

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Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract

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PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

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Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)

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Congenital anomalies of the kidney and urinary tract: defining risk factors of disease progression and determinants of outcomes

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A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling

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Factors Associated With the Development of Chronic Kidney Disease in Children With Congenital Anomalies of the Kidney and Urinary Tract

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16p11.2 transcription factor MAZ is a dosage-sensitive regulator of genitourinary development

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Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies

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Chasing the Target: New Phenomena of Resistance to Novel Selective RET Inhibitors in Lung Cancer. Updated Evidence and Future Perspectives

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Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning

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Loss‐of‐function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish

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Murine model indicates 22q11.2 signaling adaptor CRKL is a dosage-sensitive regulator of genitourinary development

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A coordinated progression of progenitor cell states initiates urinary tract development

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The Prevalence and Clinical Significance of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants

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Family Aggregation and Heritability of ESRD in Taiwan: A Population-Based Study

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Blood Pressure Abnormalities Associated with Gut Microbiota-Derived Short Chain Fatty Acids in Children with Congenital Anomalies of the Kidney and Urinary Tract

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The “3Ds” of Growing Kidney Organoids: Advances in Nephron Development, Disease Modeling, and Drug Screening

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Kidney disease in children: latest advances and remaining challenges

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Cellular heterogeneity in the ureteric progenitor niche and distinct profiles of branching morphogenesis in organ development

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Generation of infant- and pediatric-derived urinary induced pluripotent stem cells competent to form kidney organoids

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Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations

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CAKUT: A Pediatric and Evolutionary Perspective on the Leading Cause of CKD in Childhood

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Duplex kidney formation: developmental mechanisms and genetic predisposition

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Planar cell polarity pathway in kidney development, function and disease

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Morphogenesis of the kidney and lung requires branch-tip directed activity of the Adamts18 metalloprotease

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The origin and role of the renal stroma

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FAT4 Fine-Tunes Kidney Development by Regulating RET Signaling

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Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution

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MicroRNAs in kidney development and disease

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Management of antenatally detected kidney malformations

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Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome

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Rare genetic causes of complex kidney and urological diseases

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Evaluation and management of hydronephrosis in the neonate

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To screen or not to screen for vesicoureteral reflux in children with ureteropelvic junction obstruction: a systematic review

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Transcription Factor 21 Is Required for Branching Morphogenesis and Regulates the Gdnf-Axis in Kidney Development

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Maternal occupational exposure to endocrine-disrupting chemicals and urogenital anomalies in the offspring

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Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes

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Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations

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Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generation sequencing

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Diagnosis of monogenic chronic kidney diseases

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Amniotic fluid peptides predict postnatal kidney survival in developmental kidney disease

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Studying Kidney Diseases Using Organoid Models

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Development of the urogenital system is regulated via the 3′UTR of GDNF

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Impact of next generation sequencing on our understanding of CAKUT

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Combination of the fetal urinary metabolome and peptidome for the prediction of postnatal renal outcome in fetuses with PUV

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Using Zebrafish to Study Kidney Development and Disease

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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

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Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract

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Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations

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Congenital anomalies of the kidney and urinary tract

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Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT)

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Principles of Zebrafish Nephron Segment Development

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Pre-pregnancy obesity and risk of congenital abnormalities of the kidney and urinary tract (CAKUT)—systematic review, meta-analysis and ecological study

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Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation

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The First Thousand Days: Kidney Health and Beyond

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Maternal Chronic Disease and Congenital Anomalies of the Kidney and Urinary Tract in Offspring: A Japanese Cohort Study

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Hereditary Renal Diseases

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Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics

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Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole‐exome sequencing

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Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

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Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach

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Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience

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CAKUT – SYNDROME IN CHILDREN

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Modeling epigenetic modifications in renal development and disease with organoids and genome editing

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Discovery of indol-6-yl-pyrrolo[2,3-c]pyridin-7-one derivatives as bromodomain-containing protein 4 (BRD4) inhibitors for the treatment of kidney fibrosis

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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

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Delayed onset of smooth muscle cell differentiation leads to hydroureter formation in mice with conditional loss of the zinc finger transcription factor gene Gata2 in the ureteric mesenchyme

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Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1 ‐related syndrome

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Mouse Models of Congenital Kidney Anomalies

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Ultrasonography in Acute Kidney Injury

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