Associated Papers
α-Actinin-1 in Megakaryocytes: Its Structure, Interacting Proteins and Implications for Thrombopoiesis.
Wu L et al.
Biomedicines, 2025
Human and mouse platelet transcriptomes and proteomes for phenotyping 3474 genes with hemostatic and platelet traits.
Huang J et al.
Blood Vessels, Thrombosis & Hemostasis, 2025
40765903 (PubMed )
Supplement: BVTH_VTH-2024-000259-mmc6.xlsx › C-Mouse_T_H_numbered_655
Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.
Noureddine M et al.
The Journal of General Physiology, 2025
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
Guéguen P et al.
Transfusion, 2020
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
Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.
Schick UM et al.
American Journal of Human Genetics, 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
The actinin family of actin cross-linking proteins - a genetic perspective.
Murphy AC et al.
Cell & Bioscience, 2015
26312134 (PubMed )
Supplement: 13578_2015_29_MOESM1_ESM.pdf
ACTN1 mutations cause congenital macrothrombocytopenia.
Kunishima S et al.
American Journal of Human Genetics, 2013
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Guéguen P et al.
Plos One, 2013
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