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

Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.

Autor: 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.

Publikováno v: 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.