Associated Papers
Characterization of shared and ancestry-specific signals driving complex traits using multi-ancestry fine-mapping.
Mirmira T et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Association of MPL K39N and R102P heterozygous germline mutations lead to hereditary thrombocytosis.
Voirin E et al.
American Journal of Hematology, 2024
Germline MPL mutations may be a rare cause of "triple-negative" thrombocytosis.
Borsani O et al.
Experimental Hematology, 2024
Genetic background of thrombocytosis in mice mimicking hereditary thrombocytosis in humans.
Kimura H et al.
Platelets, 2023
In Silico Evaluation of Coding and Non-Coding nsSNPs in the Thrombopoietin Receptor (MPL) Proto-Oncogene: Assessing Their Influence on Protein Stability, Structure, and Function.
Al-Nakhle HH et al.
Current Issues in Molecular Biology, 2023
Structure of the thrombopoietin-MPL receptor complex is a blueprint for biasing hematopoiesis.
Tsutsumi N et al.
Cell, 2023
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Molteni E et al.
Blood, 2023
Structural modeling of cytokine-receptor-JAK2 signaling complexes using AlphaFold Multimer.
Pogozheva ID et al.
Biorxiv : the Preprint Server for Biology, 2023
Genetic basis and molecular profiling in myeloproliferative neoplasms.
Luque Paz D et al.
Blood, 2023
Effects of calreticulin mutations on cell transformation and immunity.
Desikan H et al.
Journal of Cellular and Molecular Medicine, 2023
Clonal evolution in hereditary thrombocytosis with MPL T487A mutation.
Vasseur L et al.
Pediatric Blood & Cancer, 2023
Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.
Nassar A et al.
Current Issues in Molecular Biology, 2022
Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.
Little A et al.
Human Molecular Genetics, 2022
Hereditary thrombocytosis: the genetic landscape.
Han EY et al.
British Journal of Haematology, 2021
Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.
Stockklausner C et al.
Annals of Hematology, 2021
An Asian-specific MPL genetic variant alters JAK-STAT signaling and influences platelet count in the population.
Sun P et al.
Human Molecular Genetics, 2021
The Thrombopoietin Receptor, MPL, Is a Therapeutic Target of Opportunity in the MPN.
Spivak JL et al.
Frontiers in Oncology, 2021
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
Thrombopoietin is required for full phenotype expression in a JAK2V617F transgenic mouse model of polycythemia vera.
Spivak JL et al.
Plos One, 2020
Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.
McMullin MF
Hematology. American Society of Hematology. Education Program, 2019
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
MPL Y252H anMd PL F126fs mutations in essential thrombocythemia: Case series and review of literature.
Elsayed AG et al.
Hematology Reports, 2019
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Gene editing rescue of a novel MPL mutant associated with congenital amegakaryocytic thrombocytopenia.
Cleyrat C et al.
Blood Advances, 2017
Advances in understanding the pathogenesis of familial myeloproliferative neoplasms.
Rumi E et al.
British Journal of Haematology, 2017
The Thrombopoietin Receptor: Structural Basis of Traffic and Activation by Ligand, Mutations, Agonists, and Mutated Calreticulin.
Varghese LN et al.
Frontiers in Endocrinology, 2017
Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.
Plo I et al.
Frontiers in Endocrinology, 2017
Identification of MPL R102P Mutation in Hereditary Thrombocytosis.
Bellanné-Chantelot C et al.
Frontiers in Endocrinology, 2017
Unexplained thrombocytosis: association of Baltimore polymorphism with germline MPL nonsense mutation.
Verger E et al.
British Journal of Haematology, 2016
Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients.
Cabagnols X et al.
Blood, 2016
Back to biology: new insights on inheritance in myeloproliferative disorders.
Braunstein EM et al.
Current Hematologic Malignancy Reports, 2014
Hereditary erythrocytosis, thrombocytosis and neutrophilia.
Hong WJ et al.
Best Practice & Research. Clinical Haematology, 2014
Clinical utility gene card for: hereditary thrombocythemia.
Hussein K et al.
European Journal of Human Genetics : Ejhg, 2014
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
Structural and energetic analyses of SNPs in drug targets and implications for drug therapy.
Sun HY et al.
Journal of Chemical Information and Modeling, 2013
Inherited predisposition to myeloproliferative neoplasms.
Jones AV et al.
Therapeutic Advances in Hematology, 2013
MPL Baltimore mutation and thrombocytosis: case report and literature review.
Shkalim-Zemer V et al.
Journal of Pediatric Hematology/oncology, 2013
Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations.
Bench AJ et al.
British Journal of Haematology, 2013
Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project.
Auer PL et al.
American Journal of Human Genetics, 2012
Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.
Pietra D et al.
Haematologica, 2011
Advances in understanding the pathogenesis of familial thrombocythaemia.
Teofili L et al.
British Journal of Haematology, 2011
Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1.
Tefferi A
Leukemia, 2010
Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia.
Liu K et al.
Haematologica, 2009
Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
Ballmaier M et al.
British Journal of Haematology, 2009
An ENU-induced recessive mutation in Mpl leads to thrombocytopenia with overdominance.
Chan ER et al.
Experimental Hematology, 2009
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.
Tefferi A
Journal of Cellular and Molecular Medicine, 2009
Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis.
Percy MJ et al.
American Journal of Hematology, 2009
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
El-Harith el-HA et al.
British Journal of Haematology, 2009