ACTN1 variants associated with thrombocytopenia

MYH9 gene mutations associated with bleeding

(2017) Anna Savoia et al.   PLATELETS

Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans

(2016) Ursula M. Schick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

(2016) S. Stritt et al.   BLOOD

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

(2016) I. Simeoni et al.   BLOOD

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

Congenital macrothrombocytopenia-linked mutations in the actin-binding domain of α-actinin-1 enhance F-actin association

(2016) Anita C. H. Murphy et al.   FEBS LETTERS

ACTN1 rod domain mutation associated with congenital macrothrombocytopenia

(2015) Motoko Yasutomi et al.   ANNALS OF HEMATOLOGY

Diagnostic biomarker for ACTN1 macrothrombocytopenia

(2015) S. Kunishima et al.   BLOOD

Cytoskeletal regulation of platelet formation: Coordination of F-actin and microtubules

(2015) Natalie S. Poulter et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

(2015) Sarah K Westbury et al.   Genome Medicine

The non-muscle functions of actinins: an update

(2014) Kate S. Foley et al.   BIOCHEMICAL JOURNAL

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

(2014) R. Bottega et al.   BLOOD

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

(2013) Shinji Kunishima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

(2013) Paul Guéguen et al.   PLoS One

A potential role for  -actinin in inside-out  IIb 3 signaling

(2010) S. Tadokoro et al.   BLOOD

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

(2009) Christine Chiu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

α-Actinin structure and regulation

(2008) B. Sjöblom et al.   CELLULAR AND MOLECULAR LIFE SCIENCES