المؤلفون: M Noseda, ME Bernabeu Herrero, AM Bielowka, D Patel, M Aldred, Claire L. Shovlin, P Chaves Guerrero, S Srikaran

المصدر: From bench to lung: scientific advances in respiratory research.

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, medicine, business, Hereditary haemorrhagic telangiectasia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e6d3c949f613a8bbdbc97f24bd22adf4
https://doi.org/10.1136/thorax-2021-btsabstracts.101

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

المصدر: Genetic and cellular mechanisms of pulmonary hypertension.

مصطلحات موضوعية: business.industry, Nonsense-mediated decay, RNA, Cycloheximide, Stop codon, Cell biology, Transcriptome, chemistry.chemical_compound, Exon, chemistry, RefSeq, Medicine, business, Gene

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

المؤلفون: Xiao S; National Heart and Lung Institute, Imperial College London, W12 ONN London, UK; National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, W2 1NY London, UK. Electronic address: sihao.xiao@bnc.ox.ac.uk., Kai Z; Topgen Biopharm Technology Co. Ltd., Shanghai 201203, China., Murphy D; National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, W2 1NY London, UK; Women's, Children's & Clinical Support (Pharmacy), Imperial College Healthcare NHS Trust, W2 1NY London, UK., Li D; National Heart and Lung Institute, Imperial College London, W12 ONN London, UK; National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, W2 1NY London, UK., Patel D; National Heart and Lung Institute, Imperial College London, W12 ONN London, UK; National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, W2 1NY London, UK., Bielowka AM; National Heart and Lung Institute, Imperial College London, W12 ONN London, UK; National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, W2 1NY London, UK., Bernabeu-Herrero ME; National Heart and Lung Institute, Imperial College London, W12 ONN London, UK; National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, W2 1NY London, UK., Abdulmogith A; National Heart and Lung Institute, Imperial College London, W12 ONN London, UK; National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, W2 1NY London, UK., Mumford AD; School of Cellular and Molecular Medicine, University of Bristol, BS8 1QU Bristol, UK., Westbury SK; School of Cellular and Molecular Medicine, University of Bristol, BS8 1QU Bristol, UK., Aldred MA; Division of Pulmonary, Critical Care, Sleep & Occupational Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Vargesson N; School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, AB25 2ZD Aberdeen, UK., Caulfield MJ; William Harvey Research Institute, Queen Mary University of London, E1 4NS London, UK., Shovlin CL; National Heart and Lung Institute, Imperial College London, W12 ONN London, UK; National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, W2 1NY London, UK; Specialist Medicine, Imperial College Healthcare NHS Trust, W12 OHS London, UK. Electronic address: c.shovlin@imperial.ac.uk.

مؤلفون مشاركون: Genomics England Research Consortium; Genomics England, EC1M 6BQ London, UK.

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Nov 02; Vol. 110 (11), pp. 1903-1918. Date of Electronic Publication: 2023 Oct 09.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Smad4 Protein*/genetics , Telangiectasia, Hereditary Hemorrhagic*/genetics, Humans ; Base Sequence ; DNA ; Leukocytes, Mononuclear/pathology ; Nucleotides ; Polyadenylation/genetics ; RNA ; Whole Genome Sequencing