Literature DB >> 21862976

Genetics of vesicoureteral reflux.

Prem Puri1, Jan-Hendrik Gosemann, John Darlow, David E Barton.   

Abstract

Primary vesicoureteral reflux (VUR) is the most common urological anomaly in children, affecting 1-2% of the pediatric population and 30-40% of children presenting with urinary tract infections (UTIs). Reflux-associated nephropathy is a major cause of childhood hypertension and chronic renal failure. The hereditary and familial nature of VUR is well recognized and several studies have reported that siblings of children with VUR have a higher incidence of reflux than the general pediatric population. Familial clustering of VUR implies that genetic factors have an important role in its pathogenesis, but no single major locus or gene for VUR has yet been identified and most researchers now acknowledge that VUR is genetically heterogeneous. Improvements in genome-scan techniques and continuously increasing knowledge of the genetic basis of VUR should help us to further understand its pathogenesis.

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Year:  2011        PMID: 21862976     DOI: 10.1038/nrurol.2011.113

Source DB:  PubMed          Journal:  Nat Rev Urol        ISSN: 1759-4812            Impact factor:   14.432


  137 in total

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2.  The relationship between early renal status, and the resolution of vesico-ureteric reflux and bladder function at 16 months.

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Journal:  BJU Int       Date:  2001-04       Impact factor: 5.588

3.  Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles.

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Journal:  Proc Natl Acad Sci U S A       Date:  2005-09-30       Impact factor: 11.205

4.  Mutation of HOXA13 in hand-foot-genital syndrome.

Authors:  D P Mortlock; J W Innis
Journal:  Nat Genet       Date:  1997-02       Impact factor: 38.330

Review 5.  Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula.

Authors:  Janine F Felix; Dick Tibboel; Annelies de Klein
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Review 6.  Renal abnormalities and their developmental origin.

Authors:  Andreas Schedl
Journal:  Nat Rev Genet       Date:  2007-10       Impact factor: 53.242

7.  Calcineurin is required in urinary tract mesenchyme for the development of the pyeloureteral peristaltic machinery.

Authors:  Ching-Pin Chang; Bradley W McDill; Joel R Neilson; Heidi E Joist; Jonathan A Epstein; Gerald R Crabtree; Feng Chen
Journal:  J Clin Invest       Date:  2004-04       Impact factor: 14.808

8.  GSEA-P: a desktop application for Gene Set Enrichment Analysis.

Authors:  Aravind Subramanian; Heidi Kuehn; Joshua Gould; Pablo Tamayo; Jill P Mesirov
Journal:  Bioinformatics       Date:  2007-07-20       Impact factor: 6.937

9.  Primary Vesico-Ureteral Reflux: Comparison of Factors between Infants and Children.

Authors:  Hyeon Chan Jang; Kyung Hun Lee; Jae Shin Park
Journal:  Korean J Urol       Date:  2011-03-18

10.  Renal agenesis and hypodysplasia in ret-k- mutant mice result from defects in ureteric bud development.

Authors:  A Schuchardt; V D'Agati; V Pachnis; F Costantini
Journal:  Development       Date:  1996-06       Impact factor: 6.868

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  16 in total

Review 1.  Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

Authors:  Asaf Vivante; Stefan Kohl; Daw-Yang Hwang; Gabriel C Dworschak; Friedhelm Hildebrandt
Journal:  Pediatr Nephrol       Date:  2014-01-08       Impact factor: 3.714

Review 2.  Vesicoureteric reflux and reflux nephropathy: from mouse models to childhood disease.

Authors:  Marie-Lyne Fillion; Christine L Watt; Indra R Gupta
Journal:  Pediatr Nephrol       Date:  2014-02-06       Impact factor: 3.714

Review 3.  Relevance of current guidelines in the management of VUR.

Authors:  Alexander Springer; Ramnath Subramaniam
Journal:  Eur J Pediatr       Date:  2014-01-03       Impact factor: 3.183

Review 4.  Genetics of human congenital urinary bladder disease.

Authors:  Adrian S Woolf; Helen M Stuart; William G Newman
Journal:  Pediatr Nephrol       Date:  2013-04-13       Impact factor: 3.714

5.  A single-center cohort of Canadian children with VUR reveals renal phenotypes important for genetic studies.

Authors:  Jasmine El Andalousi; Inga J Murawski; John-Paul Capolicchio; Mohamed El-Sherbiny; Roman Jednak; Indra R Gupta
Journal:  Pediatr Nephrol       Date:  2013-03-26       Impact factor: 3.714

6.  Incidence of Urinary Tract Infection Among Siblings of Children With Vesicoureteral Reflux.

Authors:  Caleb P Nelson; Jonathan A Finkelstein; Tanya Logvinenko; Mark A Schuster
Journal:  Acad Pediatr       Date:  2015-11-14       Impact factor: 3.107

7.  Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.

Authors:  Miguel Verbitsky; Priya Krithivasan; Ekaterina Batourina; Atlas Khan; Sarah E Graham; Maddalena Marasà; Hyunwoo Kim; Tze Y Lim; Patricia L Weng; Elena Sánchez-Rodríguez; Adele Mitrotti; Dina F Ahram; Francesca Zanoni; David A Fasel; Rik Westland; Matthew G Sampson; Jun Y Zhang; Monica Bodria; Byum Hee Kil; Shirlee Shril; Loreto Gesualdo; Fabio Torri; Francesco Scolari; Claudia Izzi; Joanna A E van Wijk; Marijan Saraga; Domenico Santoro; Giovanni Conti; David E Barton; Mark G Dobson; Prem Puri; Susan L Furth; Bradley A Warady; Isabella Pisani; Enrico Fiaccadori; Landino Allegri; Maria Ludovica Degl'Innocenti; Giorgio Piaggio; Shumyle Alam; Maddalena Gigante; Gianluigi Zaza; Pasquale Esposito; Fangming Lin; Ana Cristina Simões-E-Silva; Andrzej Brodkiewicz; Dorota Drozdz; Katarzyna Zachwieja; Monika Miklaszewska; Maria Szczepanska; Piotr Adamczyk; Marcin Tkaczyk; Daria Tomczyk; Przemyslaw Sikora; Malgorzata Mizerska-Wasiak; Grazyna Krzemien; Agnieszka Szmigielska; Marcin Zaniew; Vladimir J Lozanovski; Zoran Gucev; Iuliana Ionita-Laza; Ian B Stanaway; David R Crosslin; Craig S Wong; Friedhelm Hildebrandt; Jonathan Barasch; Eimear E Kenny; Ruth J F Loos; Brynn Levy; Gian Marco Ghiggeri; Hakon Hakonarson; Anna Latos-Bieleńska; Anna Materna-Kiryluk; John M Darlow; Velibor Tasic; Cristen Willer; Krzysztof Kiryluk; Simone Sanna-Cherchi; Cathy L Mendelsohn; Ali G Gharavi
Journal:  J Am Soc Nephrol       Date:  2021-02-17       Impact factor: 14.978

Review 8.  Sex effects in pyelonephritis.

Authors:  Clayton D Albracht; Teri N Hreha; David A Hunstad
Journal:  Pediatr Nephrol       Date:  2020-02-10       Impact factor: 3.714

Review 9.  Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision.

Authors:  Elisa Brandigi; Francesco Molinaro; Anna Lavinia Bulotta; Rossella Angotti; Maria Pavone; Mario Messina
Journal:  Ital J Pediatr       Date:  2013-01-23       Impact factor: 2.638

10.  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.

Authors:  J M Darlow; M G Dobson; R Darlay; C M Molony; M Hunziker; A J Green; H J Cordell; P Puri; D E Barton
Journal:  Mol Genet Genomic Med       Date:  2013-07-07       Impact factor: 2.183

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