Associated Papers
α-Actinin-1 in Megakaryocytes: Its Structure, Interacting Proteins and Implications for Thrombopoiesis.
Wu L et al.
Biomedicines, 2025
Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.
Noureddine M et al.
The Journal of General Physiology, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G et al.
Frontiers in Pediatrics, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Investigation of calmodulin-like and rod domain mutations suggests common molecular mechanism for α-actinin-1-linked congenital macrothrombocytopenia.
O'Sullivan LR et al.
Febs Letters, 2020
Novel ACTN1 variants in cases of thrombocytopenia.
Vincenot A et al.
Human Mutation, 2019
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.
Faleschini M et al.
British Journal of Haematology, 2018
Congenital macrothrombocytopenia-linked mutations in the actin-binding domain of α-actinin-1 enhance F-actin association.
Murphy AC et al.
Febs Letters, 2016
ACTN1 rod domain mutation associated with congenital macrothrombocytopenia.
Yasutomi M et al.
Annals of Hematology, 2016
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Favier R et al.
British Journal of Haematology, 2015
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.
Bottega R et al.
Blood, 2015
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Westbury SK et al.
Genome Medicine, 2015
The actinin family of actin cross-linking proteins - a genetic perspective.
Murphy AC et al.
Cell & Bioscience, 2015
The structure and regulation of human muscle α-actinin.
Ribeiro Ede A et al.
Cell, 2014
ACTN1 mutations cause congenital macrothrombocytopenia.
Kunishima S et al.
American Journal of Human Genetics, 2013