Výsledky vyhledávání

S94 Identification of natural targets of nonsense-mediated decay relevant to pulmonary vascular diseases

Autor: M Bernabeu-Herrero, IG Mollet, Claire L. Shovlin, Fatima S Govani, NJ Dibb, AM Bielowka, M Aldred, D Patel, Laurence Game

Publikováno v: Genetic and cellular mechanisms of pulmonary hypertension.

Introduction and Objectives Nonsense-mediated decay (NMD) is a quality- control mechanism that degrades RNA transcripts harbouring premature stop codons and consequently reduces production of truncated proteins. Inhibition of NMD is being evaluated a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7b4ca4b7678efaf3be5decea4ba39d20
https://doi.org/10.1136/thorax-2019-btsabstracts2019.100

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S95 Identifying new hereditary haemorrhagic telangiectasia genes by applying a machine learning approach to screen whole genome sequencing data

Autor: Hht, IG Mollet, Claire L. Shovlin, D Brown, Fatima S Govani, Pavm GeCIP, S Xiao, D Patel, Laurence Game

Publikováno v: Genetic and cellular mechanisms of pulmonary hypertension.

Introduction and objectives Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominantly-inherited disease that causes pulmonary arteriovenous malformations and pulmonary hypertension. Four disease-causing genes have been identified- E

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b69a7d2664234ac9a16cfe76aa1ead5d
https://doi.org/10.1136/thorax-2019-btsabstracts2019.101

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Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia

Autor: Michael D. Jones, Megan E. Begbie, Claire L. Shovlin, IG Mollet, Laurence Game, Adam Giess, Fatima S Govani

Hereditary haemorrhagic telangiectasia (HHT) is a disease characterised by abnormal vascular structures, and most commonly caused by mutations in ENG, ACVRL1 or SMAD4 encoding endothelial cell-expressed proteins involved in TGF-β superfamily signall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71ea127c650d61bdbec9238188a64113
http://hdl.handle.net/10044/1/22166

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P15 Directional Next Generation Whole Transcriptome Sequencing Of Primary Human Pulmonary Microvascular Endothelial Cells

Autor: Claire L. Shovlin, Adam Giess, Jones, Fatima S Govani, Laurence Game, IG Mollet, D Patel

Publikováno v: Thorax. 69:A83-A84

Introduction and objectives To improve our understanding of the dynamic interplay between non-coding and coding RNA species, we developed solution-based methods to capture the entire endothelial transcriptome. In contrast to microarrays and CHIP-base

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::74f8b51f0cefe26cb476f818c2457760
https://doi.org/10.1136/thoraxjnl-2014-206260.165

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P17 Molecular Complexities Identified Through Targeted Genomic Sequencing Of The Hht3 Locus On Chromosome 5

Autor: Jones, Adam Giess, Fatima S Govani, IG Mollet, E Thomas, Laurence Game, Claire L. Shovlin

Publikováno v: Thorax. 69:A84-A85

Introduction and objectives New methods of high throughput sequencing provide unparalleled access to the human genome and transcriptome. We hypothesised that next generation DNA sequencing technologies would allow us to identify an elusive novel dise

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e1e1d889b1eb3e5b36d617223aaeb3f1
https://doi.org/10.1136/thoraxjnl-2014-206260.167

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Endothelial Cell Processing and Alternatively Spliced Transcripts of Factor VIII: Potential Implications for Coagulation Cascades and Pulmonary Hypertension

Autor: Michael Laffan, Claire L. Shovlin, Richard A. Manning, Graeme M. Birdsey, Fatima S Govani, Gillian Angus, IG Mollet, Francesco Mauri, Grace N Okoli, Kay Elderfield

Publikováno v: PLoS ONE
e9154
PLoS ONE, Vol 5, Iss 2, p e9154 (2010)

Background Coagulation factor VIII (FVIII) deficiency leads to haemophilia A. Conversely, elevated plasma levels are a strong predictor of recurrent venous thromboemboli and pulmonary hypertension phenotypes in which in situ thromboses are implicated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e42152af5ae1076a29340ddbd7747da2
http://europepmc.org/articles/PMC2823490

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P14 Very High Quality Next-generation Dna Sequencing Data From Human Genomic Dna Samples Stored, And Intermittently Defrosted Over Two Decades

Autor: Laurence Game, IG Mollet, E Thomas, Claire L. Shovlin, Adam Giess, Fatima S Govani, Jones

Publikováno v: Thorax. 69:A83-A83

Introduction and objectives Concern about the DNA quality for next-generation sequencing encourages use of dedicated preparative kits. The purpose of this study was to attempt to sequence ten stored DNA samples that had been prepared from human blood

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::78b51b63b355005c48ae9e45117a7d5f
https://doi.org/10.1136/thoraxjnl-2014-206260.164

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Akademický článek

Acute endothelial stresses identify microRNA let-7b-5p and non-coding SLC11A2 (NRAMP2/DMT1) exon as biomarkers that overlap with those detected in malignant and non-malignant diseases.

Autor: Bielowka AM; National Heart and Lung Institute, Imperial College London, London, UK.; NIHR Imperial Biomedical Research Centre, London, UK., Patel D; National Heart and Lung Institute, Imperial College London, London, UK.; NIHR Imperial Biomedical Research Centre, London, UK., Li D; National Heart and Lung Institute, Imperial College London, London, UK.; NIHR Imperial Biomedical Research Centre, London, UK., Bernabeu-Herrero ME; National Heart and Lung Institute, Imperial College London, London, UK.; NIHR Imperial Biomedical Research Centre, London, UK., Game L; Genomics Facility, UKRI MRC Laboratory of Medical Sciences, London, UK., Aldred MA; Indiana University School of Medicine, Indianapolis, USA., Mollet IG; UCIBIO-Requimte, Faculdade de Ciências e Tecnologia (FCT), Universidade NOVA de Lisboa, 2825-149, Caparica, Portugal., Shovlin CL; National Heart and Lung Institute, Imperial College London, London, UK.; NIHR Imperial Biomedical Research Centre, London, UK.; Specialist Medicine, Imperial College Healthcare NHS Trust, London, UK.

Publikováno v: QJM : monthly journal of the Association of Physicians [QJM] 2024 Dec 10. Date of Electronic Publication: 2024 Dec 10.

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Akademický článek

Identification of human circulating factors following remote ischemic conditioning (RIC): Potential impact on stroke.

Autor: Mollet IG; UCIBIO, Applied Molecular Biosciences Unit, Department of Chemistry, NOVA School of Science and Technology, Universidade Nova de Lisboa, Caparica, Portugal; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal; Associate Laboratory i4HB, Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal., Viana-Soares R; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal., Cardoso-Pires C; UCIBIO, Applied Molecular Biosciences Unit, Department of Chemistry, NOVA School of Science and Technology, Universidade Nova de Lisboa, Caparica, Portugal; Associate Laboratory i4HB, Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal., Soares NL; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal., Marto JP; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal; Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar Lisboa Ocidental, Portugal; Centro Clínico Académico de Lisboa CCAL, Lisboa, Portugal., Mendonça M; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal; Champalimaud Research, Champalimaud Center for the Unknown, Lisbon, Portugal., Queiroga CSF; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal., Carvalho AS; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal., Sequeira CO; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal; Centro Clínico Académico de Lisboa CCAL, Lisboa, Portugal., Teixeira-Santos L; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal; Centro Clínico Académico de Lisboa CCAL, Lisboa, Portugal., Fernandes TP; UCIBIO, Applied Molecular Biosciences Unit, Department of Chemistry, NOVA School of Science and Technology, Universidade Nova de Lisboa, Caparica, Portugal; Associate Laboratory i4HB, Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal., Aloria K; Proteomics Core Facility-SGIKER, University of the Basque Country UPV/EHU, Vizcaya, Spain., Pereira SA; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal; Centro Clínico Académico de Lisboa CCAL, Lisboa, Portugal., Matthiesen R; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal., Viana-Baptista M; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal; Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar Lisboa Ocidental, Portugal; Centro Clínico Académico de Lisboa CCAL, Lisboa, Portugal., Vieira HLA; UCIBIO, Applied Molecular Biosciences Unit, Department of Chemistry, NOVA School of Science and Technology, Universidade Nova de Lisboa, Caparica, Portugal; iNOVA4Health, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade NOVA de Lisboa, Portugal; Associate Laboratory i4HB, Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. Electronic address: hl.vieira@fct.unl.pt.

Publikováno v: Free radical biology & medicine [Free Radic Biol Med] 2024 Nov 01; Vol. 224, pp. 23-38. Date of Electronic Publication: 2024 Aug 14.

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