Philip L. Beales Genetics and Genomic Medicine, Institute of Child Health University College London Biography Publications Institution JoVE Articles Philip L. Beales has not added a biography. If you are Philip L. Beales and would like to personalize this page please email our Author Liaison for assistance. Publications The Kinetochore Protein, CENPF, is Mutated in Human Ciliopathy and Microcephaly Phenotypes Journal of Medical Genetics. Mar, 2015 | Pubmed ID: 25564561 A Founder CEP120 Mutation in Jeune Asphyxiating Thoracic Dystrophy Expands the Role of Centriolar Proteins in Skeletal Ciliopathies Human Molecular Genetics. Mar, 2015 | Pubmed ID: 25361962 Ciliary Dysfunction Impairs Beta-cell Insulin Secretion and Promotes Development of Type 2 Diabetes in Rodents Nature Communications. 2014 | Pubmed ID: 25374274 Evaluation of Visual Function and Needs in Adult Patients with Bardet-biedl Syndrome Retina (Philadelphia, Pa.). Nov, 2014 | Pubmed ID: 25170860 Bardet-Biedl Syndrome Proteins 1 and 3 Regulate the Ciliary Trafficking of Polycystic Kidney Disease 1 Protein Human Molecular Genetics. Oct, 2014 | Pubmed ID: 24939912 Targeted NGS Gene Panel Identifies Mutations in RSPH1 Causing Primary Ciliary Dyskinesia and a Common Mechanism for Ciliary Central Pair Agenesis Due to Radial Spoke Defects Human Molecular Genetics. Jul, 2014 | Pubmed ID: 24518672 Loss of FTO Antagonises Wnt Signaling and Leads to Developmental Defects Associated with Ciliopathies PloS One. 2014 | Pubmed ID: 24503721 Intellectual Disability, Coarse Face, Relative Macrocephaly, and Cerebellar Hypotrophy in Two Sisters American Journal of Medical Genetics. Part A. Jan, 2014 | Pubmed ID: 24501761 Mutation of SALL2 Causes Recessive Ocular Coloboma in Humans and Mice Human Molecular Genetics. May, 2014 | Pubmed ID: 24412933 Gain-of-function Mutations in the Phosphatidylserine Synthase 1 (PTDSS1) Gene Cause Lenz-Majewski Syndrome Nature Genetics. Jan, 2014 | Pubmed ID: 24241535 Combined Exome and Whole-genome Sequencing Identifies Mutations in ARMC4 As a Cause of Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm Journal of Medical Genetics. Jan, 2014 | Pubmed ID: 24203976 Development of an Automated Imaging Pipeline for the Analysis of the Zebrafish Larval Kidney PloS One. 2013 | Pubmed ID: 24324758 Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy American Journal of Human Genetics. Oct, 2013 | Pubmed ID: 24183451 Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans American Journal of Human Genetics. Oct, 2013 | Pubmed ID: 24140113 ARNT2 Mutation Causes Hypopituitarism, Post-natal Microcephaly, Visual and Renal Anomalies Brain : a Journal of Neurology. Sep, 2013 | Pubmed ID: 24022475 Intellectual Disability, Unusual Facial Morphology and Hand Anomalies in Sibs American Journal of Medical Genetics. Part A. Oct, 2013 | Pubmed ID: 23949889 Short-rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60 American Journal of Human Genetics. Sep, 2013 | Pubmed ID: 23910462 The Bardet-Biedl Syndrome-related Protein CCDC28B Modulates MTORC2 Function and Interacts with SIN1 to Control Cilia Length Independently of the MTOR Complex Human Molecular Genetics. Jun, 2013 | Pubmed ID: 23727834 Bardet-Biedl Syndrome Proteins Control the Cilia Length Through Regulation of Actin Polymerization Human Molecular Genetics. Oct, 2013 | Pubmed ID: 23716571 Generation and Validation of a Zebrafish Model of EAST (epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy) Syndrome Disease Models & Mechanisms. May, 2013 | Pubmed ID: 23471908 Exome Sequencing Identifies DYNC2H1 Mutations As a Common Cause of Asphyxiating Thoracic Dystrophy (Jeune Syndrome) Without Major Polydactyly, Renal or Retinal Involvement Journal of Medical Genetics. May, 2013 | Pubmed ID: 23456818 Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease Human Mutation. May, 2013 | Pubmed ID: 23418020 Characterization of CCDC28B Reveals Its Role in Ciliogenesis and Provides Insight to Understand Its Modifier Effect on Bardet-Biedl Syndrome Human Genetics. Jan, 2013 | Pubmed ID: 23015189 Bardet-Biedl Syndrome European Journal of Human Genetics : EJHG. Jan, 2013 | Pubmed ID: 22713813 Novel KIF7 Mutations Extend the Phenotypic Spectrum of Acrocallosal Syndrome Journal of Medical Genetics. Nov, 2012 | Pubmed ID: 23125460 Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization American Journal of Human Genetics. Nov, 2012 | Pubmed ID: 23063620 Gene Therapy Rescues Cilia Defects and Restores Olfactory Function in a Mammalian Ciliopathy Model Nature Medicine. Sep, 2012 | Pubmed ID: 22941275 Heat Shock Induces Rapid Resorption of Primary Cilia Journal of Cell Science. Sep, 2012 | Pubmed ID: 22718348 Combining Cep290 and Mkks Ciliopathy Alleles in Mice Rescues Sensory Defects and Restores Ciliogenesis The Journal of Clinical Investigation. Apr, 2012 | Pubmed ID: 22446187 Mutations in Axonemal Dynein Assembly Factor DNAAF3 Cause Primary Ciliary Dyskinesia Nature Genetics. Apr, 2012 | Pubmed ID: 22387996 Das Lowe-Syndrom Protein OCRL1 Ist Primäre Zilien Versammlung Beteiligt Human Molecular Genetics. Jan, 2012 | Pubmed ID: 22228094 KIF7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes Nature Genetics. Jun, 2011 | Pubmed ID: 21552264 Mutations in Lectin Complement Pathway Genes COLEC11 and MASP1 Cause 3MC Syndrome Nature Genetics. Mar, 2011 | Pubmed ID: 21258343 TTC21B Contributes Both Causal and Modifying Alleles Across the Ciliopathy Spectrum Nature Genetics. Mar, 2011 | Pubmed ID: 21258341 An Ift80 Mouse Model of Short Rib Polydactyly Syndromes Shows Defects in Hedgehog Signalling Without Loss or Malformation of Cilia Human Molecular Genetics. Apr, 2011 | Pubmed ID: 21227999 Ciliopathies: an Expanding Disease Spectrum Pediatric Nephrology (Berlin, Germany). Jul, 2011 | Pubmed ID: 21210154 Arrayed Primer Extension Technology Simplifies Mutation Detection in Bardet-Biedl and Alström Syndrome European Journal of Human Genetics : EJHG. Apr, 2011 | Pubmed ID: 21157496 Mutation Analysis in Bardet-Biedl Syndrome by DNA Pooling and Massively Parallel Resequencing in 105 Individuals Human Genetics. Jan, 2011 | Pubmed ID: 21052717 Obesity in Single Gene Disorders Progress in Molecular Biology and Translational Science. 2010 | Pubmed ID: 21036324 Bbs8, Together with the Planar Cell Polarity Protein Vangl2, is Required to Establish Left-right Asymmetry in Zebrafish Developmental Biology. Sep, 2010 | Pubmed ID: 20643117 Cranioectodermal Dysplasia, Sensenbrenner Syndrome, is a Ciliopathy Caused by Mutations in the IFT122 Gene American Journal of Human Genetics. Jun, 2010 | Pubmed ID: 20493458 Basal Body Stability and Ciliogenesis Requires the Conserved Component Poc1 The Journal of Cell Biology. Dec, 2009 | Pubmed ID: 20008567 Making Sense of Cilia in Disease: the Human Ciliopathies American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. Nov, 2009 | Pubmed ID: 19876933 A Common Allele in RPGRIP1L is a Modifier of Retinal Degeneration in Ciliopathies Nature Genetics. Jun, 2009 | Pubmed ID: 19430481 The Nonmotile Ciliopathies Genetics in Medicine : Official Journal of the American College of Medical Genetics. Jun, 2009 | Pubmed ID: 19421068 Patterns of Expression of Bardet-Biedl Syndrome Proteins in the Mammalian Cochlea Suggest Noncentrosomal Functions The Journal of Comparative Neurology. May, 2009 | Pubmed ID: 19396898 Modeling Ciliopathies: Primary Cilia in Development and Disease Current Topics in Developmental Biology. 2008 | Pubmed ID: 19186246 How to Shape Cells and Influence Polarized Protein Trafficking Developmental Cell. Dec, 2008 | Pubmed ID: 19081069 Bardet-biedl Syndrome: an Atypical Phenotype in Brothers with a Proven BBS1 Mutation Ophthalmic Genetics. Sep, 2008 | Pubmed ID: 18766993 Restoration of Renal Function in Zebrafish Models of Ciliopathies Pediatric Nephrology (Berlin, Germany). Nov, 2008 | Pubmed ID: 18604564 Inhibition of Neural Crest Migration Underlies Craniofacial Dysmorphology and Hirschsprung's Disease in Bardet-Biedl Syndrome Proceedings of the National Academy of Sciences of the United States of America. May, 2008 | Pubmed ID: 18443298 Hypomorphic Mutations in Syndromic Encephalocele Genes Are Associated with Bardet-Biedl Syndrome Nature Genetics. Apr, 2008 | Pubmed ID: 18327255 Genetic Obesity Syndromes Frontiers of Hormone Research. 2008 | Pubmed ID: 18230893 Loss of Bardet Biedl Syndrome Proteins Causes Defects in Peripheral Sensory Innervation and Function Proceedings of the National Academy of Sciences of the United States of America. Oct, 2007 | Pubmed ID: 17959775 Störung Der Basalen Körper Gefährdet Proteasomal Funktion Und Wühlt Intrazelluläre Wnt-Antwort Nature Genetics. Nov, 2007 | Pubmed ID: 17906624 IFT80, Which Encodes a Conserved Intraflagellar Transport Protein, is Mutated in Jeune Asphyxiating Thoracic Dystrophy Nature Genetics. Jun, 2007 | Pubmed ID: 17468754 Bardet-Biedl Syndrome: Beyond the Cilium Pediatric Nephrology (Berlin, Germany). Jul, 2007 | Pubmed ID: 17357787 Phenotypic Characterization of Bbs4 Null Mice Reveals Age-dependent Penetrance and Variable Expressivity Human Genetics. Sep, 2006 | Pubmed ID: 16794820 BBS10 Encodes a Vertebrate-specific Chaperonin-like Protein and is a Major BBS Locus Nature Genetics. May, 2006 | Pubmed ID: 16582908 Hedgehogs on the Road to Polarity Nature Genetics. Mar, 2006 | Pubmed ID: 16501556 Präparation Der Epistase in Oligogenic Bardet-Biedl-Syndrom Nature. Jan, 2006 | Pubmed ID: 16327777 Störung Des Bardet-Biedl-Syndrom Zilien Proteine Wühlt Planar Zellpolarität Bei Wirbeltieren Nature Genetics. Oct, 2005 | Pubmed ID: 16170314 Lifting the Lid on Pandora's Box: the Bardet-Biedl Syndrome Current Opinion in Genetics & Development. Jun, 2005 | Pubmed ID: 15917208 MKKS/BBS6, a Divergent Chaperonin-like Protein Linked to the Obesity Disorder Bardet-Biedl Syndrome, is a Novel Centrosomal Component Required for Cytokinesis Journal of Cell Science. Mar, 2005 | Pubmed ID: 15731008 Clinical and Genetic Epidemiology of Bardet-Biedl Syndrome in Newfoundland: a 22-year Prospective, Population-based, Cohort Study American Journal of Medical Genetics. Part A. Feb, 2005 | Pubmed ID: 15637713 Linkage Disequilibrium Mapping in the Newfoundland Population: a Re-evaluation of the Refinement of the Bardet-Biedl Syndrome 1 Critical Interval Human Genetics. Jan, 2005 | Pubmed ID: 15517396 Loss of BBS Proteins Causes Anosmia in Humans and Defects in Olfactory Cilia Structure and Function in the Mouse Nature Genetics. Sep, 2004 | Pubmed ID: 15322545 Mutations in a Member of the Ras Superfamily of Small GTP-binding Proteins Causes Bardet-Biedl Syndrome Nature Genetics. Sep, 2004 | Pubmed ID: 15314642 Loss of C. Elegans BBS-7 and BBS-8 Protein Function Results in Cilia Defects and Compromised Intraflagellar Transport Genes & Development. Jul, 2004 | Pubmed ID: 15231740 Comparative Genomics Identifies a Flagellar and Basal Body Proteome That Includes the BBS5 Human Disease Gene Cell. May, 2004 | Pubmed ID: 15137946 The Bardet-Biedl Protein BBS4 Targets Cargo to the Pericentriolar Region and is Required for Microtubule Anchoring and Cell Cycle Progression Nature Genetics. May, 2004 | Pubmed ID: 15107855 Basal Body Dysfunction is a Likely Cause of Pleiotropic Bardet-Biedl Syndrome Nature. Oct, 2003 | Pubmed ID: 14520415 Evaluation of Multiplex Capillary Heteroduplex Analysis: a Rapid and Sensitive Mutation Screening Technique Human Mutation. Aug, 2003 | Pubmed ID: 12872256 Heterozygous Mutations in BBS1, BBS2 and BBS6 Have a Potential Epistatic Effect on Bardet-Biedl Patients with Two Mutations at a Second BBS Locus Human Molecular Genetics. Jul, 2003 | Pubmed ID: 12837689 Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome American Journal of Human Genetics. May, 2003 | Pubmed ID: 12677556 BBS4 is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance American Journal of Human Genetics. Jul, 2002 | Pubmed ID: 12016587 Bewertung der Zebrafisch Nierenfunktion unter Verwendung einer fluoreszierenden Räumungs Assay Sonia Christou-Savina1, Philip L. Beales1, Daniel P. S. Osborn2 1Genetics and Genomic Medicine, Institute of Child Health, University College London, 2Molecular Cell Science Research Centre, St. George's University of London JoVE 52540 Biologia
Bewertung der Zebrafisch Nierenfunktion unter Verwendung einer fluoreszierenden Räumungs Assay Sonia Christou-Savina1, Philip L. Beales1, Daniel P. S. Osborn2 1Genetics and Genomic Medicine, Institute of Child Health, University College London, 2Molecular Cell Science Research Centre, St. George's University of London JoVE 52540 Biologia