Philip L Beales

Philip L Beales

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Philip L Beales

Philip L Beales

Publications by authors named "Philip L Beales"

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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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http://dx.doi.org/10.3389/fped.2018.00131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949343PMC
May 2018

Managing Bardet-Biedl Syndrome-Now and in the Future.

Front Pediatr 2018 13;6:23. Epub 2018 Feb 13.

Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

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http://journal.frontiersin.org/article/10.3389/fped.2018.000
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http://dx.doi.org/10.3389/fped.2018.00023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816783PMC
February 2018

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

Eur J Med Genet 2017 Dec 12;60(12):658-666. Epub 2017 Sep 12.

Genetics and Genomics Unit, Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.019DOI Listing
December 2017

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

J Am Soc Nephrol 2017 Mar 22;28(3):963-970. Epub 2016 Sep 22.

Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health.

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http://dx.doi.org/10.1681/ASN.2015091029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328148PMC
March 2017

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

PLoS Genet 2017 03 16;13(3):e1006679. Epub 2017 Mar 16.

Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1006679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373641PMC
March 2017

Non-essential role for cilia in coordinating precise alignment of lens fibres.

Mech Dev 2016 Feb 26;139:10-7. Epub 2016 Jan 26.

Save Sight Institute, The University of Sydney, Sydney, NSW 2000, Australia.

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http://dx.doi.org/10.1016/j.mod.2016.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789115PMC
February 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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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

Bardet Biedl syndrome: motile ciliary phenotype.

Chest 2015 Mar;147(3):764-770

PCD Diagnostic Team, Royal Brompton and Harefield NHS Trust.

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https://linkinghub.elsevier.com/retrieve/pii/S00123692153967
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http://dx.doi.org/10.1378/chest.13-2913DOI Listing
March 2015

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Hum Mol Genet 2015 Mar 30;24(5):1410-9. Epub 2014 Oct 30.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia

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http://dx.doi.org/10.1093/hmg/ddu555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321448PMC
March 2015

Evaluation of zebrafish kidney function using a fluorescent clearance assay.

J Vis Exp 2015 Feb 20(96):e52540. Epub 2015 Feb 20.

Molecular Cell Science Research Centre, St. George's University of London;

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http://www.jove.com/video/52540/evaluation-zebrafish-kidney-
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http://dx.doi.org/10.3791/52540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354652PMC
February 2015

Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.

Retina 2014 Nov;34(11):2282-9

*Department of Ophthalmology, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom; †Academic Unit of Ophthalmology, University of Birmingham, Birmingham, United Kingdom; ‡Birmingham and Midland Eye Centre, Sandwell and West Birmingham NHS Trust, Birmingham, United Kingdom; §Institute of Child Health, University College London, London, United Kingdom; and ¶Birmingham Women's NHS Foundation Trust, Birmingham, United Kingdom.

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http://dx.doi.org/10.1097/IAE.0000000000000222DOI Listing
November 2014

Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents.

Nat Commun 2014 Nov 6;5:5308. Epub 2014 Nov 6.

The Rolf Luft Research Center for Diabetes and Endocrinology, Karolinska Institutet, SE-171 76 Stockholm, Sweden.

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http://www.nature.com/articles/ncomms6308
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http://dx.doi.org/10.1038/ncomms6308DOI Listing
November 2014

Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

Hum Mol Genet 2014 Oct 16;23(20):5441-51. Epub 2014 Jun 16.

Center for Polycystic Kidney Disease Research and Renal Division, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA and

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http://dx.doi.org/10.1093/hmg/ddu267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168828PMC
October 2014

Intellectual disability, unusual facial morphology and hand anomalies in sibs.

Am J Med Genet A 2013 Oct 15;161A(10):2401-6. Epub 2013 Aug 15.

Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.36124
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http://dx.doi.org/10.1002/ajmg.a.36124DOI Listing
October 2013

Bardet-Biedl syndrome.

Eur J Hum Genet 2013 Jan 20;21(1):8-13. Epub 2012 Jun 20.

Molecular Medicine Unit, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2012.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522196PMC
January 2013

Heat shock induces rapid resorption of primary cilia.

J Cell Sci 2012 Sep 20;125(Pt 18):4297-305. Epub 2012 Jun 20.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.

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http://jcs.biologists.org/content/joces/125/18/4297.full.pdf
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http://jcs.biologists.org/cgi/doi/10.1242/jcs.100545
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http://dx.doi.org/10.1242/jcs.100545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516438PMC
September 2012

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.

Hum Mol Genet 2012 Apr 6;21(8):1835-47. Epub 2012 Jan 6.

Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.

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http://dx.doi.org/10.1093/hmg/ddr615DOI Listing
April 2012

Obesity in single gene disorders.

Authors:
Philip L Beales

Prog Mol Biol Transl Sci 2010 ;94:125-57

Molecular Medicine Unit, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, United Kingdom.

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http://dx.doi.org/10.1016/B978-0-12-375003-7.00005-4DOI Listing
July 2011

Ciliopathies: an expanding disease spectrum.

Pediatr Nephrol 2011 Jul 6;26(7):1039-56. Epub 2011 Jan 6.

Department of Nephro-Urology, Great Ormond Street Hospital, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-010-1731-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098370PMC
July 2011

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.

Hum Mol Genet 2011 Apr 12;20(7):1306-14. Epub 2011 Jan 12.

Molecular Medicine Unit, UCL Institute of Child Health, London WC1N 1EH, UK.

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http://dx.doi.org/10.1093/hmg/ddr013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3049354PMC
April 2011

Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish.

Dev Biol 2010 Sep 17;345(2):215-25. Epub 2010 Jul 17.

Molecular Medicine Unit, Institute of Child Health, University College London, WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.ydbio.2010.07.013DOI Listing
September 2010

Basal body stability and ciliogenesis requires the conserved component Poc1.

J Cell Biol 2009 Dec;187(6):905-20

Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO 80309, USA.

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http://dx.doi.org/10.1083/jcb.200908019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806327PMC
December 2009

Making sense of cilia in disease: the human ciliopathies.

Am J Med Genet C Semin Med Genet 2009 Nov;151C(4):281-95

UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://doi.wiley.com/10.1002/ajmg.c.30231
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http://dx.doi.org/10.1002/ajmg.c.30231DOI Listing
November 2009

The nonmotile ciliopathies.

Genet Med 2009 Jun;11(6):386-402

Cancer Research United Kingdom London Research Institute, London, United Kingdom.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e3181a02882
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http://dx.doi.org/10.1097/GIM.0b013e3181a02882DOI Listing
June 2009

Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions.

J Comp Neurol 2009 May;514(2):174-88

Institute of Child Health, University College London, London WC1N1EH, United Kingdom.

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http://dx.doi.org/10.1002/cne.22001DOI Listing
May 2009

Modeling ciliopathies: Primary cilia in development and disease.

Curr Top Dev Biol 2008 ;84:249-310

Institute of Child Health, University College London, London, WC1N1EH, UK

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http://dx.doi.org/10.1016/S0070-2153(08)00605-4DOI Listing
March 2009

How to shape cells and influence polarized protein trafficking.

Dev Cell 2008 Dec;15(6):799-800

Molecular Medicine Unit, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1016/j.devcel.2008.11.012DOI Listing
December 2008

Restoration of renal function in zebrafish models of ciliopathies.

Pediatr Nephrol 2008 Nov 5;23(11):2095-9. Epub 2008 Jul 5.

Molecular Medicine Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1007/s00467-008-0898-7DOI Listing
November 2008

Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.

Ophthalmic Genet 2008 Sep;29(3):128-32

Manchester Royal Eye Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1080/13816810802216464DOI Listing
September 2008

Genetic obesity syndromes.

Front Horm Res 2008 ;36:37-60

MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, UK.

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http://dx.doi.org/10.1159/000115336DOI Listing
May 2008

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Nat Genet 2008 Apr 9;40(4):443-8. Epub 2008 Mar 9.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733. N Broadway, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/ng.97DOI Listing
April 2008

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.

Nat Genet 2007 Nov 30;39(11):1350-60. Epub 2007 Sep 30.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/ng.2007.12DOI Listing
November 2007

Bardet-Biedl syndrome: beyond the cilium.

Pediatr Nephrol 2007 Jul 15;22(7):926-36. Epub 2007 Mar 15.

Molecular Medicine Unit, UCL Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s00467-007-0435-0DOI Listing
July 2007

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

Nat Genet 2007 Jun 29;39(6):727-9. Epub 2007 Apr 29.

Molecular Medicine Unit, University College London (UCL) Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1038/ng2038DOI Listing
June 2007

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Hum Genet 2006 Sep 23;120(2):211-26. Epub 2006 Jun 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00439-006-0197-yDOI Listing
September 2006

Hedgehogs on the road to polarity.

Authors:
Philip L Beales

Nat Genet 2006 Mar;38(3):277-9

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http://dx.doi.org/10.1038/ng0306-277DOI Listing
March 2006

Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

Nature 2006 Jan 4;439(7074):326-30. Epub 2005 Dec 4.

McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/nature04370DOI Listing
January 2006

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome.

Authors:
Philip L Beales

Curr Opin Genet Dev 2005 Jun;15(3):315-23

Molecular Medicine Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.gde.2005.04.006DOI Listing
June 2005

Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval.

Hum Genet 2005 Jan 23;116(1-2):62-71. Epub 2004 Oct 23.

Department of Molecular Biology and Biochemistry, Simon Fraser University, 8888 University Drive, Burnaby, BC, Canada V5A 1S6.

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http://dx.doi.org/10.1007/s00439-004-1184-9DOI Listing
January 2005

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

Nat Genet 2004 Sep 22;36(9):994-8. Epub 2004 Aug 22.

Howard Hughes Medical Institute and Department of Molecular Biology and Genetics, 533 Broadway Street Building, Johns Hopkins University, 733 N. Broadway, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/ng1418DOI Listing
September 2004

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.

Nat Genet 2004 May 25;36(5):462-70. Epub 2004 Apr 25.

Department of Molecular Biology and Biochemistry, Simon Fraser University, 8888 University Dr., Burnaby BC, V5A 1S6, Canada.

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http://dx.doi.org/10.1038/ng1352DOI Listing
May 2004

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

Hum Mutat 2003 Aug;22(2):151-7

Molecular Medicine Unit, Institute of Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.10241DOI Listing
August 2003