Imperial College London

DrErnestTurro

Faculty of MedicineSchool of Public Health

Honorary Research Associate
 
 
 
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ernest.turro Website

 
 
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Medical SchoolSt Mary's Campus

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Summary

 

Publications

Publication Type
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38 results found

Heremans J, Garcia-Perez JE, Turro E, Schlenner SM, Casteels I, Collin R, de Zegher F, Greene D, Humblet-Baron S, Lesage S, Matthys P, Penkett CJ, Put K, Stirrups K, National Institute for Health Research BioResource, Thys C, Van Geet C, Van Nieuwenhove E, Wouters C, Meyts I, Freson K, Liston Aet al., 2018, Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome., J Allergy Clin Immunol

BACKGROUND: Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation, cognitive delay, hypogammaglobulinemia, and, in some patients, thrombocytopenia. Compound heterozygous variants in the small nuclear RNA gene RNU4ATAC, which is necessary for U12-type intron splicing, were identified recently as driving Roifman syndrome. OBJECTIVE: We studied 3 patients from 2 unrelated kindreds harboring compound heterozygous or homozygous stem II variants in RNU4ATAC to gain insight into the mechanisms behind this disorder. METHODS: We systematically profiled the immunologic and hematologic compartments of the 3 patients with Roifman syndrome and performed RNA sequencing to unravel important splicing defects in both cell lineages. RESULTS: The patients exhibited a dramatic reduction in B-cell numbers, with differentiation halted at the transitional B-cell stage. Despite abundant B-cell activating factor availability, development past this B-cell activating factor-dependent stage was crippled, with disturbed minor splicing of the critical mitogen-activated protein kinase 1 signaling component. In the hematologic compartment patients with Roifman syndrome demonstrated defects in megakaryocyte differentiation, with inadequate generation of proplatelets. Platelets from patients with Roifman syndrome were rounder, with increased tubulin and actin levels, and contained increased α-granule and dense granule markers. Significant minor intron retention in 354 megakaryocyte genes was observed, including DIAPH1 and HPS1, genes known to regulate platelet and dense granule formation, respectively. CONCLUSION: Together, our results provide novel molecular and cellular data toward understanding the immunologic and hematologic features of Roifman syndrome.

JOURNAL ARTICLE

Tuijnenburg P, Lango Allen H, Burns SO, Greene D, Jansen MH, Staples E, Stephens J, Carss KJ, Biasci D, Baxendale H, Thomas M, Chandra A, Kiani-Alikhan S, Longhurst HJ, Seneviratne SL, Oksenhendler E, Simeoni I, de Bree GJ, Tool ATJ, van Leeuwen EMM, Ebberink EHTM, Meijer AB, Tuna S, Whitehorn D, Brown M, Turro E, Thrasher AJ, Smith KGC, Thaventhiran JE, Kuijpers TW, NIHR BioResourceRare Diseases Consortiumet al., 2018, Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans., J Allergy Clin Immunol

BACKGROUND: The genetic cause of primary immunodeficiency disease (PID) carries prognostic information. OBJECTIVE: We conducted a whole-genome sequencing study assessing a large proportion of the NIHR BioResource-Rare Diseases cohort. METHODS: In the predominantly European study population of principally sporadic unrelated PID cases (n = 846), a novel Bayesian method identified nuclear factor κB subunit 1 (NFKB1) as one of the genes most strongly associated with PID, and the association was explained by 16 novel heterozygous truncating, missense, and gene deletion variants. This accounted for 4% of common variable immunodeficiency (CVID) cases (n = 390) in the cohort. Amino acid substitutions predicted to be pathogenic were assessed by means of analysis of structural protein data. Immunophenotyping, immunoblotting, and ex vivo stimulation of lymphocytes determined the functional effects of these variants. Detailed clinical and pedigree information was collected for genotype-phenotype cosegregation analyses. RESULTS: Both sporadic and familial cases demonstrated evidence of the noninfective complications of CVID, including massive lymphadenopathy (24%), unexplained splenomegaly (48%), and autoimmune disease (48%), features prior studies correlated with worse clinical prognosis. Although partial penetrance of clinical symptoms was noted in certain pedigrees, all carriers have a deficiency in B-lymphocyte differentiation. Detailed assessment of B-lymphocyte numbers, phenotype, and function identifies the presence of an increased CD21lowB-cell population. Combined with identification of the disease-causing variant, this distinguishes between healthy subjects, asymptomatic carriers, and clinically affected cases. CONCLUSION: We show that heterozygous loss-of-function variants in NFKB1 are the most common known monogenic cause of CVID, which results in a temporally progressive defect in the formation of immunoglobulin-producing B cells.

JOURNAL ARTICLE

Freson K, Turro E, 2017, High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders, JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Vol: 15, Pages: 1262-1272, ISSN: 1538-7933

JOURNAL ARTICLE

Greene D, Richardson S, Turro E, 2017, ontologyX: a suite of R packages for working with ontological data, BIOINFORMATICS, Vol: 33, Pages: 1104-1106, ISSN: 1367-4803

JOURNAL ARTICLE

Greene D, Richardson S, Turro E, 2017, A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 101, Pages: 104-114, ISSN: 0002-9297

JOURNAL ARTICLE

Koehler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Ayme S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJS, DeMare LE, Devereau AD, de Vries BBA, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jahn JA, James R, Krause R, Laulederkind SJF, Lochmuller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MWM, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Zuchner S, Zemojtel T, Jacobsen JOB, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PNet al., 2017, The Human Phenotype Ontology in 2017, NUCLEIC ACIDS RESEARCH, Vol: 45, Pages: D865-D876, ISSN: 0305-1048

JOURNAL ARTICLE

Morren M-A, Jaeken J, Visser G, Salles I, Van Geet C, Simeoni I, Turro E, Freson Ket al., 2017, PIGO deficiency: palmoplantar keratoderma and novel mutations, ORPHANET JOURNAL OF RARE DISEASES, Vol: 12, ISSN: 1750-1172

JOURNAL ARTICLE

Petersen R, Lambourne JJ, Javierre BM, Grassi L, Kreuzhuber R, Ruklisa D, Rosa IM, Tome AR, Elding H, van Geffen JP, Jiang T, Farrow S, Cairns J, Al-Subaie AM, Ashford S, Attwood A, Batista J, Bouman H, Burden F, Choudry FA, Clarke L, Flicek P, Garner SF, Haimel M, Kempster C, Ladopoulos V, Lenaerts A-S, Materek PM, McKinney H, Meacham S, Mead D, Nagy M, Penkett CJ, Rendon A, Seyres D, Sun B, Tuna S, van der Weide M-E, Wingett SW, Martens JH, Stegle O, Richardson S, Vallier L, Roberts DJ, Freson K, Wernisch L, Stunnenberg HG, Danesh J, Fraser P, Soranzo N, Butterworth AS, Heemskerk JW, Turro E, Spivakov M, Ouwehand WH, Astle WJ, Downes K, Kostadima M, Frontini Met al., 2017, Platelet function is modified by common sequence variation in megakaryocyte super enhancers, NATURE COMMUNICATIONS, Vol: 8, ISSN: 2041-1723

JOURNAL ARTICLE

Pleines I, Woods J, Chappaz S, Kew V, Foad N, Ballester-Beltran J, Aurbach K, Lincetto C, Lane RM, Schevzov G, Alexander WS, Hilton DJ, Astle WJ, Downes K, Nurden P, Westbury SK, Mumford AD, Obaji SG, Collins PW, Delerue F, Ittner LM, Bryce NS, Holliday M, Lucas CA, Hardeman EC, Ouwehand WH, Gunning PW, Turro E, Tijssen MR, Kile BTet al., 2017, Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia, JOURNAL OF CLINICAL INVESTIGATION, Vol: 127, Pages: 814-829, ISSN: 0021-9738

JOURNAL ARTICLE

Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise C, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, Nurden AT, Nurden P, Freson K, Tregouet D-A, Raslova H, Alessi M-Cet al., 2017, Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34(+) progenitors, HAEMATOLOGICA, Vol: 102, Pages: 282-294, ISSN: 0390-6078

JOURNAL ARTICLE

Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD, Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro Eet al., 2017, Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia, BLOOD, Vol: 129, Pages: 520-524, ISSN: 0006-4971

JOURNAL ARTICLE

Westbury SK, Canault M, Greene D, Bermejo E, Hanlon K, Lambert MP, Millar CM, Nurden P, Obaji SG, Revel-Vilk S, Van Geet C, Downes K, Papadia S, Tuna S, Watt C, Freson K, Laffan MA, Ouwehand WH, Alessi M-C, Turro E, Mumford ADet al., 2017, Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding, BLOOD, Vol: 130, Pages: 1026-1030, ISSN: 0006-4971

JOURNAL ARTICLE

Burley K, Whyte CS, Westbury SK, Walker M, Stirrups KE, Turro E, Chapman OG, Reilly-Stitt C, Mutch NJ, Mumford ADet al., 2016, Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy, BLOOD, Vol: 128, Pages: 1879-1883, ISSN: 0006-4971

JOURNAL ARTICLE

Greene D, Richardson S, Turro E, 2016, Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 98, Pages: 490-499, ISSN: 0002-9297

JOURNAL ARTICLE

Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WHet al., 2016, Inherited platelet disorders: toward DNA-based diagnosis, BLOOD, Vol: 127, Pages: 2814-2823, ISSN: 0006-4971

JOURNAL ARTICLE

Simeoni I, Stephens JC, Hu F, Deevi SVV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJA, Westbury SK, Greene D, Papadia S, Alessi M-C, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JWM, Henskens YMC, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, Lopez JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro Eet al., 2016, A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders, BLOOD, Vol: 127, Pages: 2791-2803, ISSN: 0006-4971

JOURNAL ARTICLE

Stritt S, Nurden P, Favier R, Favier M, Ferioli S, Gotru KS, van Eeuwijk JMM, Schulze H, Nurden AT, Lambert MP, Turro E, Burger-Stritt S, Matsushita M, Mittermeier L, Ballerini P, Zierler S, Laffan MA, Chubanov V, Gudermann T, Nieswandt B, Braun Aet al., 2016, Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture, JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Vol: 14, Pages: 107-107, ISSN: 1538-7933

JOURNAL ARTICLE

Stritt S, Nurden P, Favier R, Favier M, Ferioli S, Gotru KS, van Eeuwijk JMM, Schulze H, Nurden AT, Lambert MP, Turro E, Burger-Stritt S, Matsushita M, Mittermeier L, Ballerini P, Zierler S, Laffan MA, Chubanov V, Gudermann T, Nieswandt B, Braun Aet al., 2016, Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture, Journal of Thrombosis and Haemostasis, Vol: 14, Pages: 107-107, ISSN: 1538-7933

JOURNAL ARTICLE

Stritt S, Nurden P, Favier R, Favier M, Ferioli S, Gotru SK, van Eeuwijk JMM, Schulze H, Nurden AT, Lambert MP, Turro E, Burger-Stritt S, Matsushita M, Mittermeier L, Ballerini P, Zierler S, Laffan MA, Chubanov V, Gudermann T, Nieswandt B, Braun Aet al., 2016, Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture, NATURE COMMUNICATIONS, Vol: 7, ISSN: 2041-1723

JOURNAL ARTICLE

Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford ADet al., 2016, A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss, BLOOD, Vol: 127, Pages: 2903-2914, ISSN: 0006-4971

JOURNAL ARTICLE

Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett CJ, Ashford S, Attwood A, Austin S, Bakchoul T, Collins P, Deevi SVV, Favier R, Kostadima M, Lambert MP, Mathias M, Millar CM, Peerlinck K, Perry DJ, Schulman S, Whitehorn D, Wittevrongel C, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley JR, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K, Ouwehand WHet al., 2016, A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies, SCIENCE TRANSLATIONAL MEDICINE, Vol: 8, ISSN: 1946-6234

JOURNAL ARTICLE

Chong W, Turro E, Metcalfe P, Yusuf R, Merieux Y, Rigal D, Porcelijn L, Huiskes E, Lucas G, Bendukidze N, Green A, Fontao-Wendel R, Husebekk A, Dixey J, Guest A, Mushens R, Ouwehand WH, Navarrete CVet al., 2015, A multicenter validation of recombinant 3 integrin-coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia, TRANSFUSION, Vol: 55, Pages: 2742-2751, ISSN: 0041-1132

JOURNAL ARTICLE

Jaenes J, Hu F, Lewin A, Turro Eet al., 2015, A comparative study of RNA-seq analysis strategies, BRIEFINGS IN BIOINFORMATICS, Vol: 16, Pages: 932-940, ISSN: 1467-5463

JOURNAL ARTICLE

Latos PA, Goncalves A, Oxley D, Mohammed H, Turro E, Hemberger Met al., 2015, Fgf and Esrrb integrate epigenetic and transcriptional networks that regulate self-renewal of trophoblast stem cells, NATURE COMMUNICATIONS, Vol: 6, ISSN: 2041-1723

JOURNAL ARTICLE

Modelska A, Turro E, Russell R, Beaton J, Sbarrato T, Spriggs K, Miller J, Graf S, Provenzano E, Blows F, Pharoah P, Caldas C, Le Quesne Jet al., 2015, The malignant phenotype in breast cancer is driven by eIF4A1-mediated changes in the translational landscape, CELL DEATH & DISEASE, Vol: 6, ISSN: 2041-4889

JOURNAL ARTICLE

Westbury SK, Turro E, Greene D, Lentaigne C, Kelly AM, Bariana TK, Simeoni I, Pillois X, Attwood A, Austin S, Jansen SBG, Bakchoul T, Crisp-Hihn A, Erber WN, Favier R, Foad N, Gattens M, Jolley JD, Liesner R, Meacham S, Millar CM, Nurden AT, Peerlinck K, Perry DJ, Poudel P, Schulman S, Schulze H, Stephens JC, Furie B, Robinson PN, van Geet C, Rendon A, Gomez K, Laffan MA, Lambert MP, Nurden P, Ouwehand WH, Richardson S, Mumford AD, Freson Ket al., 2015, Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders, GENOME MEDICINE, Vol: 7, ISSN: 1756-994X

JOURNAL ARTICLE

Chambers JC, Abbott J, Zhang W, Turro E, Scott WR, Tan S-T, Afzal U, Afaq S, Loh M, Lehne B, O'Reilly P, Gaulton KJ, Pearson RD, Li X, Lavery A, Vandrovcova J, Wass MN, Miller K, Sehmi J, Oozageer L, Kooner IK, Al-Hussaini A, Mills R, Grewal J, Panoulas V, Lewin AM, Northwood K, Wander GS, Geoghegan F, Li Y, Wang J, Aitman TJ, McCarthy MI, Scott J, Butcher S, Elliott P, Kooner JSet al., 2014, The South Asian Genome, PLOS ONE, Vol: 9, ISSN: 1932-6203

JOURNAL ARTICLE

Chen L, Kostadima M, Martens JHA, Canu G, Garcia SP, Turro E, Downes K, Macaulay IC, Bielczyk-Maczynska E, Coe S, Farrow S, Poudel P, Burden F, Jansen SBG, Astle WJ, Attwood A, Bariana T, de Bono B, Breschi A, Chambers JC, Choudry FA, Clarke L, Coupland P, van der Ent M, Erber WN, Jansen JH, Favier R, Fenech ME, Foad N, Freson K, van Geet C, Gomez K, Guigo R, Hampshire D, Kelly AM, Kerstens HHD, Kooner JS, Laffan M, Lentaigne C, Labalette C, Martin T, Meacham S, Mumford A, Nuernberg S, Palumbo E, van der Reijden BA, Richardson D, Sammut SJ, Slodkowicz G, Tamuri AU, Vasquez L, Voss K, Watt S, Westbury S, Flicek P, Loos R, Goldman N, Bertone P, Read RJ, Richardson S, Cvejic A, Soranzo N, Ouwehand WH, Stunnenberg HG, Frontini M, Rendon Aet al., 2014, Transcriptional diversity during lineage commitment of human blood progenitors, SCIENCE, Vol: 345, Pages: 1580-+, ISSN: 0036-8075

JOURNAL ARTICLE

Shen SQ, Turro E, Corbo JC, 2014, Hybrid Mice Reveal Parent-of-Origin and Cis- and Trans-Regulatory Effects in the Retina, PLOS ONE, Vol: 9, ISSN: 1932-6203

JOURNAL ARTICLE

Turro E, Astle WJ, Tavare S, 2014, Flexible analysis of RNA-seq data using mixed effects models, BIOINFORMATICS, Vol: 30, Pages: 180-188, ISSN: 1367-4803

JOURNAL ARTICLE

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