Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

Autor: Bernabéu-Herrero, Maria E., Patel, Dilipkumar, Bielowka, Adrianna, Zhu, JiaYi, Jain, Kinshuk, Mackay, Ian S., Chaves Guerrero, Patricia, Emanuelli, Giulia, Jovine, Luca, Noseda, Michela, Marciniak, Stefan J., Aldred, Micheala A., Shovlin, Claire L.

Publikováno v: In Blood 30 May 2024 143(22):2314-2331

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MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia.

Autor: Shovlin, Claire L., Patel, Dilip, Bielowka, Adrianna, Ledermann, Jonathan A., Modarresi, Atieh, Bernabeu‐Herrero, Maria E., Aldred, Micheala A., Alsafi, Ali

Publikováno v: British Journal of Haematology; Jan2024, Vol. 204 Issue 1, p361-365, 5p

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.