The genetic basis of congenital anomalies of the kidney and urinary tract
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Title
The genetic basis of congenital anomalies of the kidney and urinary tract
Authors
Keywords
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Journal
PEDIATRIC NEPHROLOGY
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-02-05
DOI
10.1007/s00467-021-05420-1
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Note: Only part of the references are listed.- Congenital Anomalies of the Kidney and Urinary Tract and Adulthood risk of Urinary Tract Cancer
- (2021) Ronit Calderon-Margalit et al. Kidney International Reports
- CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis
- (2021) Julian D. Gillmore et al. NEW ENGLAND JOURNAL OF MEDICINE
- Initial experience from a renal genetics clinic demonstrates a distinct role in patient management
- (2020) Christie P. Thomas et al. GENETICS IN MEDICINE
- Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome: 20 years after the identification of the first GATA3 mutations
- (2020) Manuel C. Lemos et al. HUMAN MUTATION
- Clinical and genetic variability of PAX2-related disorder in the Japanese population
- (2020) Rini Rossanti et al. JOURNAL OF HUMAN GENETICS
- Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract
- (2020) Yo Han Ahn et al. Journal of Clinical Medicine
- Childhood risk factors for adulthood chronic kidney disease
- (2020) Michal Stern-Zimmer et al. PEDIATRIC NEPHROLOGY
- Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
- (2020) Dervla M. Connaughton et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Screening of renal anomalies in first-degree relatives of children diagnosed with non-syndromic congenital anomalies of kidney and urinary tract
- (2020) Aarthi Viswanathan et al. Clinical and Experimental Nephrology
- Rare genetic causes of complex kidney and urological diseases
- (2020) Emily E. Groopman et al. Nature Reviews Nephrology
- Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
- (2019) Caroline M. Kolvenbach et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clinical characteristics of HNF1B-related disorders in a Japanese population
- (2019) China Nagano et al. Clinical and Experimental Nephrology
- Monogenic causes of chronic kidney disease in adults
- (2019) Dervla M. Connaughton et al. KIDNEY INTERNATIONAL
- Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
- (2019) Asaf Vivante et al. PEDIATRIC NEPHROLOGY
- 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
- (2019) Sho Ishiwa et al. PEDIATRIC NEPHROLOGY
- Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy
- (2019) Moran Dvela-Levitt et al. CELL
- COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
- (2019) Thomas M. Kitzler et al. HUMAN GENETICS
- The genomic landscape of CAKUT; you gain some, you lose some
- (2019) Nine V.A.M. Knoers et al. KIDNEY INTERNATIONAL
- Autosomal dominant tubulointerstitial kidney disease
- (2019) Olivier Devuyst et al. Nature Reviews Disease Primers
- Graft immaturity and safety concerns in transplanted human kidney organoids
- (2019) Sun Ah Nam et al. EXPERIMENTAL AND MOLECULAR MEDICINE
- Single cell census of human kidney organoids shows reproducibility and diminished off-target cells after transplantation
- (2019) Ayshwarya Subramanian et al. Nature Communications
- CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
- (2019) Nina Mann et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome
- (2018) Laura Bozal-Basterra et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Barakat syndrome revisited
- (2018) Amin J. Barakat et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genetic basis of human congenital anomalies of the kidney and urinary tract
- (2018) Simone Sanna-Cherchi et al. JOURNAL OF CLINICAL INVESTIGATION
- Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome
- (2018) Ai Unzaki et al. JOURNAL OF HUMAN GENETICS
- New insights into the role of HNF-1β in kidney (patho)physiology
- (2018) Silvia Ferrè et al. PEDIATRIC NEPHROLOGY
- Transcriptional regulatory control of mammalian nephron progenitors revealed by multi-factor cistromic analysis and genetic studies
- (2018) Lori L. O’Brien et al. PLoS Genetics
- Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
- (2018) Amelie T. van der Ven et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Renal Genetics in Australia: Kidney Medicine in the Genomic Age
- (2018) Kushani Jayasinghe et al. NEPHROLOGY
- Single-cell transcriptomes from human kidneys reveal the cellular identity of renal tumors
- (2018) Matthew D. Young et al. SCIENCE
- Comparative Analysis and Refinement of Human PSC-Derived Kidney Organoid Differentiation with Single-Cell Transcriptomics
- (2018) Haojia Wu et al. Cell Stem Cell
- 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
- (2018) Laïla Allach El Khattabi et al. JOURNAL OF MEDICAL GENETICS
- The copy number variation landscape of congenital anomalies of the kidney and urinary tract
- (2018) Miguel Verbitsky et al. NATURE GENETICS
- De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects
- (2017) Anne Slavotinek et al. HUMAN MOLECULAR GENETICS
- PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans
- (2017) Pauline Le Tanno et al. JOURNAL OF MEDICAL GENETICS
- Targeted Exome Sequencing IdentifiesPBX1as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract
- (2017) Laurence Heidet et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract
- (2017) Amelie T. van der Ven et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract
- (2017) Ting-ying Lei et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
- (2017) Esther Lopez-Rivera et al. NEW ENGLAND JOURNAL OF MEDICINE
- Renal lineage cells as a source for renal regeneration
- (2017) Oren Pleniceanu et al. PEDIATRIC RESEARCH
- Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract
- (2016) Asaf Vivante et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
- (2016) Nayia Nicolaou et al. KIDNEY INTERNATIONAL
- Erratum: Kidney organoids from human iPS cells contain multiple lineages and model human nephrogenesis
- (2016) Minoru Takasato et al. NATURE
- Exploring the genetic basis of early-onset chronic kidney disease
- (2016) Asaf Vivante et al. Nature Reviews Nephrology
- Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
- (2015) Asaf Vivante et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rare copy number variants implicated in posterior urethral valves
- (2015) Nansi S. Boghossian et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Clinical phenotype of the recurrent 1q21.1 copy-number variant
- (2015) Raphael Bernier et al. GENETICS IN MEDICINE
- Hepatocyte Nuclear Factor 1 -Associated Kidney Disease: More than Renal Cysts and Diabetes
- (2015) J. C. Verhave et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney
- (2015) Rik Westland et al. KIDNEY INTERNATIONAL
- Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
- (2015) Kai-Uwe Eckardt et al. KIDNEY INTERNATIONAL
- Nephron organoids derived from human pluripotent stem cells model kidney development and injury
- (2015) Ryuji Morizane et al. NATURE BIOTECHNOLOGY
- HNF1B-associated clinical phenotypes: the kidney and beyond
- (2015) Detlef Bockenhauer et al. PEDIATRIC NEPHROLOGY
- Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
- (2014) Camille Humbert et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome
- (2014) Julie Gauthier et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mutations in PAX2 Associate with Adult-Onset FSGS
- (2014) M. Barua et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- 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
- 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
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum
- (2014) Rhian L. Clissold et al. Nature Reviews Nephrology
- Copy-number variation associated with congenital anomalies of the kidney and urinary tract
- (2014) Georgina Caruana 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
- Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
- (2014) Michael F. Wangler et al. PLoS Genetics
- LRIG2 Mutations Cause Urofacial Syndrome
- (2013) Helen M. Stuart et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Redefining the In Vivo Origin of Metanephric Nephron Progenitors Enables Generation of Complex Kidney Structures from Pluripotent Stem Cells
- (2013) Atsuhiro Taguchi et al. Cell Stem Cell
- 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
- Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
- (2013) Pawaree Saisawat et al. KIDNEY INTERNATIONAL
- Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
- (2012) Simone Sanna-Cherchi et al. AMERICAN JOURNAL OF HUMAN 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
- GATA3 abnormalities in six patients with HDR syndrome
- (2011) Maki Fukami et al. ENDOCRINE JOURNAL
- 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
- Mutations in HPSE2 Cause Urofacial Syndrome
- (2010) Sarah B. Daly et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
- (2010) Daniel Moreno-De-Luca et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Deletion of Hepatocyte Nuclear Factor-1-Beta in an Infant with Prune Belly Syndrome
- (2010) Sina Haeri et al. AMERICAN JOURNAL OF PERINATOLOGY
- Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations
- (2010) Pauline Krug et al. HUMAN MUTATION
- Concise Review: Kidney Stem/Progenitor Cells: Differentiate, Sort Out, or Reprogram?
- (2010) Oren Pleniceanu et al. STEM CELLS
- Six2 Defines and Regulates a Multipotent Self-Renewing Nephron Progenitor Population throughout Mammalian Kidney Development
- (2008) Akio Kobayashi et al. Cell Stem Cell
- Osr1 expression demarcates a multi-potent population of intermediate mesoderm that undergoes progressive restriction to an Osr1-dependent nephron progenitor compartment within the mammalian kidney
- (2008) Joshua W. Mugford et al. DEVELOPMENTAL BIOLOGY
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