Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract
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Title
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 190, Issue 3, Pages 325-343
Publisher
Wiley
Online
2022-10-08
DOI
10.1002/ajmg.c.32006
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Note: Only part of the references are listed.- The genetic basis of congenital anomalies of the kidney and urinary tract
- (2022) Maayan Kagan et al. PEDIATRIC NEPHROLOGY
- Risk Factors Associated With Renal and Urinary Tract Anomalies Delineated by an Ultrasound Screening Program in Infants
- (2022) Yuling Liu et al. Frontiers in Pediatrics
- TEMPORARY REMOVAL: Genetic and Sporadic Renal Cystic Diseases During the Perinatal and Neonatal Period: Core Curriculum 2021
- (2021) Rupesh Raina et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Exome survey of individuals affected by VATER / VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
- (2021) Caroline M. Kolvenbach et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract
- (2021) Bixia Zheng et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans
- (2021) Lei Dai et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
- (2021) Steve Seltzsam et al. GENETICS IN MEDICINE
- A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT)
- (2020) Vasikar Murugapoopathy et al. Clinical Journal of the American Society of Nephrology
- Screening for Renal and Urinary Tract Anomalies in Asymptomatic First Degree Relatives of Children with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
- (2020) Aravindhan Manoharan et al. INDIAN JOURNAL OF PEDIATRICS
- Copy number variations associated with fetal congenital kidney malformations
- (2020) Meiying Cai et al. Molecular Cytogenetics
- 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
- 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
- Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
- (2019) Nina Mann et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Personalized medicine in chronic kidney disease by detection of monogenic mutations
- (2019) Dervla M Connaughton et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- 16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome
- (2019) Katja Kloth et al. CLINICAL GENETICS
- Monogenic causes of chronic kidney disease in adults
- (2019) Dervla M. Connaughton et al. KIDNEY INTERNATIONAL
- Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)
- (2019) Asha N. Talati et al. PRENATAL DIAGNOSIS
- CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
- (2019) Nina Mann et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies
- (2018) M. Rasmussen et al. CLINICAL 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
- Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play
- (2017) Valentina Capone et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- 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
- A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling
- (2017) Asaf Vivante et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- The function of heparan sulfate during branching morphogenesis
- (2017) Vaishali N. Patel et al. MATRIX BIOLOGY
- Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study
- (2016) Sander Groen in 't Woud et al. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
- Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract
- (2016) Samuel Nef et al. EUROPEAN JOURNAL OF PEDIATRICS
- 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
- The contribution of branching morphogenesis to kidney development and disease
- (2016) Kieran M. Short et al. Nature Reviews Nephrology
- Vesicoureteral reflux and the extracellular matrix connection
- (2016) Fatima Tokhmafshan et al. PEDIATRIC NEPHROLOGY
- Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype
- (2016) Heiko Reutter et al. PEDIATRIC NEPHROLOGY
- Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study
- (2016) Sander Groen in 't Woud et al. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
- Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
- (2015) Asaf Vivante et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
- (2015) Daw-Yang Hwang et al. HUMAN GENETICS
- Genetic, environmental and epigenetic factors involved in CAKUT
- (2015) Nayia Nicolaou et al. Nature Reviews Nephrology
- Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
- (2014) Camille Humbert et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Remodelling the extracellular matrix in development and disease
- (2014) Caroline Bonnans et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans
- (2014) Asaf Vivante et al. PEDIATRIC NEPHROLOGY
- Ureter growth and differentiation
- (2014) Tobias Bohnenpoll et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- LRIG2 Mutations Cause Urofacial Syndrome
- (2013) Helen M. Stuart et al. AMERICAN JOURNAL OF HUMAN GENETICS
- NovelFREM1mutations expand the phenotypic spectrum associated with manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome
- (2013) Jared Nathanson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Retinoic acid signaling pathways in development and diseases
- (2013) Bhaskar C. Das et al. BIOORGANIC & MEDICINAL CHEMISTRY
- De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
- (2013) Willa Thorson et al. HUMAN GENETICS
- Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
- (2013) Pawaree Saisawat et al. KIDNEY INTERNATIONAL
- To bud or not to bud: the RET perspective in CAKUT
- (2013) T. Keefe Davis et al. PEDIATRIC NEPHROLOGY
- High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT
- (2013) Burcu Bulum et al. PEDIATRIC NEPHROLOGY
- Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
- (2012) Simone Sanna-Cherchi et al. AMERICAN JOURNAL OF HUMAN 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
- Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome–associated proteins
- (2012) Daiji Kiyozumi et al. JOURNAL OF CELL BIOLOGY
- A paradoxical teratogenic mechanism for retinoic acid
- (2012) L. M. Y. Lee et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders
- (2011) Brian Chung et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Nephric duct insertion is a crucial step in urinary tract maturation that is regulated by a Gata3-Raldh2-Ret molecular network in mice
- (2011) I. Chia et al. DEVELOPMENT
- HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort
- (2011) Rosemary Thomas et al. PEDIATRIC NEPHROLOGY
- Involvement of retinol dehydrogenase 10 in embryonic patterning and rescue of its loss of function by maternal retinaldehyde treatment
- (2011) M. Rhinn et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Posterior urethral valve
- (2011) Abdulrasheed A. Nasir et al. World Journal of Pediatrics
- De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
- (2010) Dianna M. Milewicz et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 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
- The role of Fras1/Frem proteins in the structure and function of basement membrane
- (2010) Evangelos Pavlakis et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Heparanase 2 Interacts with Heparan Sulfate with High Affinity and Inhibits Heparanase Activity
- (2010) Flonia Levy-Adam et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Genetics of congenital anomalies of the kidney and urinary tract
- (2010) Renfang Song et al. PEDIATRIC NEPHROLOGY
- Plumbing in the embryo: developmental defects of the urinary tracts
- (2009) N Uetani et al. CLINICAL GENETICS
- Non-cell-autonomous retinoid signaling is crucial for renal development
- (2009) Carolina Rosselot et al. DEVELOPMENT
- Renal outcome in patients with congenital anomalies of the kidney and urinary tract
- (2009) Simone Sanna-Cherchi et al. KIDNEY INTERNATIONAL
- Unilateral multicystic dysplastic kidney: a meta-analysis of observational studies on the incidence, associated urinary tract malformations and the contralateral kidney
- (2009) M. F. Schreuder et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Renal Aplasia in Humans Is Associated with RET Mutations
- (2008) Michael A. Skinner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Molecular study of 33 families with Fraser syndrome new data and mutation review
- (2008) M.M. van Haelst et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli
- (2008) J. E. Pitera et al. HUMAN MOLECULAR 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
- Dysplastic kidneys
- (2007) Paul Winyard et al. Seminars in Fetal & Neonatal Medicine
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