Associated Papers
Platelet-specific SLFN14 deletion causes macrothrombocytopenia and platelet dysfunction through dysregulated megakaryocyte and platelet gene expression.
Stapley RJ et al.
The Journal of Clinical Investigation, 2025
CryoEM structure of the SLFN14 endoribonuclease reveals insight into RNA binding and cleavage.
Van Riper J et al.
Nature Communications, 2025
Novel mutation SLFN14 T853fs associated with inherited macrothrombocytopenia.
Xie H et al.
Molecular Therapy. Nucleic Acids, 2025
Severe Thrombocytopenia Is Associated with a Genetic Variant in the Helicase Domain of SLFN14 Gene: A Case Report.
Yang K et al.
Ejhaem, 2025
Structural and functional characterization of human SLFN14.
Luo M et al.
Nucleic Acids Research, 2025
Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia.
Sato D et al.
Pediatric Hematology and Oncology, 2024
Ribosome dysfunction underlies SLFN14-related thrombocytopenia.
Ver Donck F et al.
Blood, 2023
Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome.
Polokhov D et al.
Orphanet Journal of Rare Diseases, 2023
Structural, molecular, and functional insights into Schlafen proteins.
Jo U et al.
Experimental & Molecular Medicine, 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
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I et al.
Human Mutation, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation.
Fletcher SJ et al.
Rna (new York, N.y.), 2018
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Johnson B et al.
Haematologica, 2016
Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.
Johnson B et al.
Platelets, 2016
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.
Fletcher SJ et al.
The Journal of Clinical Investigation, 2015
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