From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
Neil A RobertsAdrian S Woolf

Abstract

We present a scientific investigation into the pathogenesis of a urinary bladder disease. The disease in question is called urofacial syndrome (UFS), a congenital condition inherited in an autosomal recessive manner. UFS features incomplete urinary bladder emptying and vesicoureteric reflux, with a high risk of recurrent urosepsis and end-stage renal disease. The story starts from a human genomic perspective, then proceeds through experiments that seek to determine the roles of the implicated molecules in embryonic frogs and newborn mice. A future aim would be to use such biological knowledge to intelligently choose novel therapies for UFS. We focus on heparanase proteins and the peripheral nervous system, molecules and tissues that appear to be key players in the pathogenesis of UFS and therefore must also be critical for functional differentiation of healthy bladders. These considerations allow the envisioning of novel biological treatments, although the potential difficulties of targeting the developing bladder in vivo should not be underestimated.

References

Jan 1, 1988·Fetal Therapy·K H NicolaidesS Campbell
Oct 12, 2000·Biochemical and Biophysical Research Communications·E McKenzieM Page
Mar 26, 2003·The American Journal of Pathology·Nikesh ThiruchelvamAdrian S Woolf
Dec 3, 2003·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Bernardo Ochoa
Feb 11, 2004·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Eyal ZchariaIsrael Vlodavsky
Mar 23, 2004·Laboratory Investigation; a Journal of Technical Methods and Pathology·Shay Y SchubertOrit Goldshmidt
May 13, 2005·Journal of the American Society of Nephrology : JASN·Dagan JenkinsAdrian S Woolf
Mar 7, 2007·British Journal of Pharmacology·E A McKenzie
Oct 24, 2007·Nature Chemical Biology·Martha L Escobar GalvisJin-Ping Li
Jan 4, 2008·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Fernanda LeddaGustavo Paratcha
May 1, 2008·Nature Clinical Practice. Nephrology·Larissa KerecukAdrian S Woolf
Dec 17, 2008·Journal of Pediatric Urology·Isabelle VidalMarc-David Leclair
Dec 19, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Guy H Neild
Jun 22, 2010·American Journal of Human Genetics·Junfeng PangCong-Yi Wang
Jun 22, 2010·American Journal of Human Genetics·Sarah B DalyWilliam G Newman
Jun 26, 2010·The Journal of Biological Chemistry·Flonia Levy-AdamIsrael Vlodavsky
Jul 7, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Shazia AdalatAdrian S Woolf
Jan 25, 2011·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Joseph P RitchieYang Yang
Mar 29, 2011·Clinical Journal of the American Society of Nephrology : CJASN·Heather J LambertUNKNOWN UK VUR Study Group
Jun 22, 2011·Cold Spring Harbor Perspectives in Biology·Stephane SarrazinJeffrey D Esko
Aug 4, 2011·Cancer Microenvironment : Official Journal of the International Cancer Microenvironment Society·Israel VlodavskyMichael Elkin
Nov 15, 2011·American Journal of Human Genetics·Stefanie WeberAdrian S Woolf
Jan 17, 2012·Current Opinion in Pediatrics·Stefanie Weber
Oct 16, 2012·Journal of the American Society of Nephrology : JASN·Jolanta E PiteraPeter J Scambler
Nov 6, 2012·Journal of the American Society of Nephrology : JASN·Adrian S Woolf, Jamie A Davies
Jan 15, 2013·American Journal of Human Genetics·Helen M StuartWilliam G Newman
Feb 23, 2013·The Journal of Biological Chemistry·Camilla A ThompsonRalph D Sanderson
Apr 16, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Adrian S WoolfWilliam G Newman
Jun 19, 2013·Frontiers in Cellular Neuroscience·Evelyn C AvilésEsther T Stoeckli
Jul 9, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Adrian S WoolfWilliam G Newman
Aug 21, 2013·Lancet·Rachel K MorrisUNKNOWN Percutaneous vesicoamniotic shunting in Lower Urinary Tract Obstruction (PLUTO) Collaborative Group

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Citations

Jul 2, 2020·Neurourology and Urodynamics·Imerjit ManakNeil A Roberts
Feb 10, 2021·Journal of Pediatric Urology·Sebastian OsorioJorge A Martinez
Mar 2, 2021·Journal of Pediatric Endocrinology & Metabolism : JPEM·Hande Nur Cesur BaltacıHalil Gürhan Karabulut

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