MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Gisela G Slaats; Christine R Isabella; Hester Y Kroes; Jennifer C Dempsey; Hendrik Gremmels; Glen R Monroe; Ian G Phelps; Karen J Duran; Jonathan Adkins; Sairam A Kumar; Dana M Knutzen; Nine V Knoers; Nancy J Mendelsohn; David Neubauer; Sotiria D Mastroyianni; Julie Vogt; Lisa Worgan; Natalya Karp; Sarah Bowdin; Ian A Glass; Melissa A Parisi; Edgar A Otto; Colin A Johnson; Friedhelm Hildebrandt; Gijs van Haaften; Rachel H Giles; Dan Doherty

doi:10.1136/jmedgenet-2015-103250

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Genotype-phenotype correlations

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MKS1 regulates ciliary INPP5E levels in Joubert syndrome

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Gisela G Slaats Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Christine R Isabella Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Hester Y Kroes Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Jennifer C Dempsey Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Hendrik Gremmels Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Glen R Monroe Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Ian G Phelps Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Karen J Duran Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Jonathan Adkins Department of Pediatrics, University of Washington, Seattle, Washington, USA Division of Integrated Cancer Genomics, Translational Genomics Research Institute, Phoenix, Arizona, USA PubMed articles Google scholar articles
Sairam A Kumar Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Dana M Knutzen Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Nine V Knoers Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Nancy J Mendelsohn Department of Medical Genetics, Children's Hospitals & Clinics of Minnesota, Minneapolis, Minnesota, USA PubMed articles Google scholar articles
David Neubauer Department of Child, Adolescent and Developmental Neurology, University Children's Hospital Ljubljana, Ljubljana, Slovenia PubMed articles Google scholar articles
Sotiria D Mastroyianni Department of Neurology, Children's Hospital of Athens “P. and A. Kyriakou”, Athens, Greece PubMed articles Google scholar articles
Julie Vogt West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK PubMed articles Google scholar articles
Lisa Worgan Department of Clinical Genetics, Liverpool Hospital, Liverpool, Australia PubMed articles Google scholar articles
Natalya Karp Medical Genetics Program, Department of Pediatrics, London Health Science Centre, University of Western Ontario, London, Ontario, Canada PubMed articles Google scholar articles
Sarah Bowdin Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articles Google scholar articles
Ian A Glass Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Melissa A Parisi Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Edgar A Otto Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Colin A Johnson Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, UK PubMed articles Google scholar articles
Friedhelm Hildebrandt Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA Howard Hughes Medical Institute, Chevy Chase, Maryland, USA PubMed articles Google scholar articles
Gijs van Haaften Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Rachel H Giles Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Dan Doherty Department of Pediatrics, University of Washington, Seattle, Washington, USA Seattle Children's Research Institute, Seattle, Washington, USA PubMed articles Google scholar articles

Correspondence to Dr Rachel H Giles, Department of Nephrology, F03.233, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands; r.giles{at}umcutrecht.nl

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Slaats GG, Isabella CR, Kroes HY, et al

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Journal of Medical Genetics 2016;53:62-72.

Publication history

Received May 6, 2015
Revised September 16, 2015
Accepted September 23, 2015
First published October 21, 2015.

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April 27, 2016

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