Publications by authors named "Rachel H Giles"

99Publications

Updated European Association of Urology Guidelines on Renal Cell Carcinoma: Nivolumab plus Cabozantinib Joins Immune Checkpoint Inhibition Combination Therapies for Treatment-naïve Metastatic Clear-Cell Renal Cell Carcinoma.

Eur Urol 2020 Dec 20. Epub 2020 Dec 20.

The Royal Free London NHS Foundation Trust, London, UK; UCL Division of Surgery and Interventional Science, University College London, London, UK; Department of Urology, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. Electronic address:

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December 2020

Control of Angiogenesis via a VHL/miR-212/132 Axis.

Cells 2020 04 19;9(4). Epub 2020 Apr 19.

Department of Nephrology & Hypertension, Division Internal Medicine, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.

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April 2020

Transgenic zebrafish modeling low-molecular-weight proteinuria and lysosomal storage diseases.

Kidney Int 2020 06 28;97(6):1150-1163. Epub 2019 Dec 28.

Institute of Physiology, University of Zurich, Zurich, Switzerland. Electronic address:

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June 2020

Updated European Association of Urology Guidelines on Renal Cell Carcinoma: Immune Checkpoint Inhibition Is the New Backbone in First-line Treatment of Metastatic Clear-cell Renal Cell Carcinoma.

Eur Urol 2019 Aug;76(2):151-156

Department of Urology, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands; Specialist Centre for Kidney Cancer, Royal Free London NHS Foundation Trust, London, UK; UCL Division of Surgery and Interventional Science, London, UK. Electronic address:

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August 2019

European Association of Urology Guidelines on Renal Cell Carcinoma: The 2019 Update.

Eur Urol 2019 05 23;75(5):799-810. Epub 2019 Feb 23.

The Royal Free London NHS Foundation Trust, London, UK; UCL Division of Surgery and Interventional Science, London, UK; Department of Urology, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.

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May 2019

The first prospective trial for von Hippel-Lindau disease: pazopanib.

Lancet Oncol 2018 10 17;19(10):1267-1269. Epub 2018 Sep 17.

Department of Neurosurgery, Universitair Ziekenhuis Brussel, Brussels, Belgium.

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October 2018

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies.

J Proteomics 2019 02 30;192:27-36. Epub 2018 Jul 30.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address:

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February 2019

Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.

Eur J Med Genet 2019 Mar 10;62(3):177-181. Epub 2018 Jul 10.

Fred A Litwin Family Centre in Genetic Medicine, University Health Network, Canada; Division of Medical Oncology and Hematology, Department of Medicine, University of Toronto, Toronto, Canada. Electronic address:

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March 2019

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.

Front Pediatr 2018 7;6:131. Epub 2018 May 7.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

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May 2018

Recommendations for the Management of Rare Kidney Cancers.

Eur Urol 2017 12 16;72(6):974-983. Epub 2017 Jul 16.

Division of Surgical Oncology, Department of Urology, The Netherlands Cancer Institute, Amsterdam, The Netherlands. Electronic address:

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December 2017

Changing Current Practice in Urology: Improving Guideline Development and Implementation Through Stakeholder Engagement.

Eur Urol 2017 08 22;72(2):161-163. Epub 2017 Feb 22.

Department of Nephrology and Hypertension, Regenerative Medicine Centre Utrecht, University Medical Centre Utrecht, Utrecht, The Netherlands; International Kidney Cancer Coalition, www.ikcc.org. Electronic address:

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August 2017

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

Nat Rev Nephrol 2016 08 4;12(8):472-83. Epub 2016 Jul 4.

Department of Genetics, Center for Molecular Medicine, KC04.084.2, University Medical Center Utrecht, PO BOX: 85090 3508 AB Utrecht, The Netherlands.

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August 2016

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

J Clin Oncol 2016 06 25;34(18):2172-81. Epub 2016 Apr 25.

Sarah M. Nielsen and Lindsay Rhodes, The University of Chicago, Chicago, IL; Ignacio Blanco, Hospital Universitari Germans Trias i Pujol, UAB - Universitat Autònoma de Barcelona, Barcelona, Spain; Wendy K. Chung, Columbia University, New York, NY; Charis Eng, Cleveland Clinic; Charis Eng, Case Western Reserve University School of Medicine, Cleveland, OH; Eamonn R. Maher, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, United Kingdom; Stéphane Richard, Réseau National pour Cancers Rares de l'Adulte PREDIR, INCa/AP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre; Stéphane Richard, INSERM U1186, Gustave Roussy Cancer Campus, Villejuif, France; Rachel H. Giles, University Medical Center Utrecht, Regenerative Medicine Center Utrecht, Utrecht; and Rachel H. Giles, Dutch VHL Patient Organization, Gouda, the Netherlands.

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June 2016

Genetic, environmental, and epigenetic factors involved in CAKUT.

Nat Rev Nephrol 2015 Dec 18;11(12):720-31. Epub 2015 Aug 18.

Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, PO Box 85090, 3508 AB, Utrecht, Netherlands.

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December 2015

Nephronophthisis: should we target cysts or fibrosis?

Pediatr Nephrol 2016 Apr 29;31(4):545-54. Epub 2015 Jul 29.

Department of Nephrology and Hypertension, F03.233, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands.

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April 2016

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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August 2015

Are renal ciliopathies (replication) stressed out?

Trends Cell Biol 2015 Jun 27;25(6):317-9. Epub 2015 Apr 27.

Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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June 2015

Ex vivo exposure of bone marrow from chronic kidney disease donor rats to pravastatin limits renal damage in recipient rats with chronic kidney disease.

Stem Cell Res Ther 2015 Apr 15;6:63. Epub 2015 Apr 15.

Department of Nephrology & Hypertension, University Medical Center Utrecht, F03.223, Heidelberglaan 100, Utrecht, 3584 CX, The Netherlands.

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April 2015

3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders.

Nat Protoc 2014 Dec 30;9(12):2725-31. Epub 2014 Oct 30.

1] Research Oncology, Genentech, South San Francisco, California, USA. [2] Baxter Laboratory for Stem Cell Biology, Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, California, USA.

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December 2014

Amsterdam patient charter for global kidney cancer care.

Eur Urol 2015 Feb 23;67(2):354-5. Epub 2014 Sep 23.

Kidney Cancer Canada, Keswick, Ontario, Canada.

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February 2015

Next-generation sequencing for research and diagnostics in kidney disease.

Nat Rev Nephrol 2014 Aug 10;10(8):433-44. Epub 2014 Jun 10.

Department of Medical Genetics, University Medical Center Utrecht, KC04.048.02, PO Box 85090, Utrecht, 3508 AB, Netherlands.

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August 2014

The role of the cilium in hereditary tumor predisposition syndromes.

J Pediatr Genet 2014 Jun;3(2):129-40

Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.

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June 2014

Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling.

J Am Soc Nephrol 2014 Nov 10;25(11):2573-83. Epub 2014 Apr 10.

Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland

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November 2014

Lithium causes G2 arrest of renal principal cells.

J Am Soc Nephrol 2014 Mar 9;25(3):501-10. Epub 2014 Jan 9.

Department of Physiology, Nijmegen Centre for Molecular Life Sciences, and.

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March 2014

The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium.

Cilia 2013 May 31;2(1). Epub 2013 May 31.

Centre for Molecular and Biomolecular Informatics, Radboud University Medical Centre, Nijmegen 6500 HB, The Netherlands.

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May 2013

Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis.

Cilia 2013 Apr 29;2(1). Epub 2013 Apr 29.

Department of Nephrology and Hypertension, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, F03,223, 3584 CX, The Netherlands.

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April 2013

Pancreatic cyst development: insights from von Hippel-Lindau disease.

Cilia 2013 Feb 5;2(1). Epub 2013 Feb 5.

Department of Endocrinology, University of Groningen, University Medical Center Groningen, PO Box 30,001, 9700 RB, Groningen, The Netherlands.

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February 2013

Reduced cilia frequencies in human renal cell carcinomas versus neighboring parenchymal tissue.

Cilia 2013 Jan 31;2(1). Epub 2013 Jan 31.

Department of Nephrology and Hypertension, University Medical Center Utrecht, Heidelberglaan 100, 3584, CX, Utrecht, The Netherlands.

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January 2013

The serine-threonine kinase LKB1 is essential for survival under energetic stress in zebrafish.

Proc Natl Acad Sci U S A 2011 Mar 1;108(11):4358-63. Epub 2011 Mar 1.

Department of Molecular Genetics, Netherlands Cancer Institute, 1066 CX, Amsterdam, The Netherlands.

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March 2011

A role for central spindle proteins in cilia structure and function.

Cytoskeleton (Hoboken) 2011 Feb 12;68(2):112-24. Epub 2011 Jan 12.

Section of Molecular Cell and Developmental Biology, University of Texas at Austin, Austin, Texas, USA.

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February 2011

von Hippel-Lindau tumor suppressor mutants faithfully model pathological hypoxia-driven angiogenesis and vascular retinopathies in zebrafish.

Dis Model Mech 2010 May-Jun;3(5-6):343-53. Epub 2010 Mar 24.

Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences and University Medical Center Utrecht, Utrecht, The Netherlands.

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September 2010

Genetic analysis of von Hippel-Lindau disease.

Hum Mutat 2010 May;31(5):521-37

Department of Medical Oncology, University Medical Center Utrecht, Universiteitsweg 100, Utrecht, The Netherlands.

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May 2010

LRRC50, a conserved ciliary protein implicated in polycystic kidney disease.

J Am Soc Nephrol 2008 Jun 2;19(6):1128-38. Epub 2008 Apr 2.

Hubrecht Institute, Developmental Biology and Stem Cell Research, University Medical Center Utrecht, Utrecht, Netherlands.

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June 2008

All along the watchtower: is the cilium a tumor suppressor organelle?

Biochim Biophys Acta 2008 Dec 26;1786(2):114-25. Epub 2008 Feb 26.

Department of Medical Oncology, University Medical Center Utrecht, The Netherlands.

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December 2008

Mobility of the von Hippel-Lindau tumour suppressor protein is regulated by kinesin-2.

Exp Cell Res 2008 Apr 5;314(6):1229-36. Epub 2008 Jan 5.

Laboratory of Experimental Oncology, Department of Medical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.

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April 2008

Allele-specific regulation of primary cilia function by the von Hippel-Lindau tumor suppressor.

Eur J Hum Genet 2008 Jan 3;16(1):73-8. Epub 2007 Oct 3.

Department of Medical Oncology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, The Netherlands.

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January 2008

The von Hippel-Lindau tumour suppressor interacts with microtubules through kinesin-2.

FEBS Lett 2007 Oct 31;581(24):4571-6. Epub 2007 Aug 31.

Department of Medical Oncology, University Medical Center Utrecht, Heidelberglaan 100, rm F02.126, 3584 CX Utrecht, The Netherlands.

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October 2007

Circulating mitochondrial nucleic acids have prognostic value for survival in patients with advanced prostate cancer.

Clin Cancer Res 2007 Jan;13(2 Pt 1):421-6

Department of Medical Oncology, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands.

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January 2007

Tumor suppressors APC and VHL: gatekeepers of the intestine and kidney.

Prog Mol Subcell Biol 2005 ;40:151-81

Department Medical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.

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January 2007

Progenitor marker CD133 mRNA is elevated in peripheral blood of cancer patients with bone metastases.

Clin Cancer Res 2006 Aug;12(16):4859-66

Department of Medical Oncology and Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands.

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August 2006

Tumor suppression by the von Hippel-Lindau protein requires phosphorylation of the acidic domain.

J Biol Chem 2005 Jun 11;280(23):22205-11. Epub 2005 Apr 11.

Department of Medical Oncology, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.

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June 2005