Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.
Jain K et al.
Journal of Clinical Medicine, 2023
38202257 (PubMed )
Supplement: jcm-13-00250-s001.zip › jcm-2748090-supplementary.pdf
Pulmonary hypertension in hereditary haemorrhagic telangiectasia is associated with multiple clinical conditions.
Margelidon-Cozzolino V et al.
Erj Open Research, 2021
Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.
Townson SA et al.
The Journal of Biological Chemistry, 2012
Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.
Scotti C et al.
Plos One, 2011
Reduced plasma levels of Ang-2 and sEng as novel biomarkers in hereditary hemorrhagic telangiectasia (HHT).
Ojeda-Fernandez L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.
Fernandez-L A et al.
Human Mutation, 2006
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.
Wehner LE et al.
Clinical Genetics, 2006
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