Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.S204F
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MPL

NM_005373.3:p.S204F

Associated Papers

Mutation profiling of chronic myeloproliferative neoplasms: improving clinical-molecular prognostic models.

Loscocco GG et al.

Expert Review of Molecular Diagnostics, 2025

Blastic plasmacytoid dendritic cell neoplasm secondary to acute myeloid leukemia with shared mutations in TET2 and DNMT3A: a case report and literature review.

Sun Y et al.

Frontiers in Immunology, 2025

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

Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms.

Morishita S et al.

International Journal of Molecular Sciences, 2023

Study of CALR, MPL, and c-kit Gene Mutations in Thai Patients with JAK2 V617F Negative Myeloproliferative Neoplasms.

Wiriyaukaradecha K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2022

Next-generation sequencing redefines the diagnosis of triple-negative myeloproliferative neoplasms.

Wu S et al.

Annals of Hematology, 2022

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Cheng CK et al.

Ejhaem, 2022

35846205 (PubMed )
Supplement: JHA2-3-184-s002.xlsx › All_MPN_cases

Cell-autonomous megakaryopoiesis associated with polyclonal hematopoiesis in triple-negative essential thrombocythemia.

Inano T et al.

Scientific Reports, 2021

Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms.

Loscocco GG et al.

Cells, 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

Recent insights regarding the molecular basis of myeloproliferative neoplasms.

Jang MA et al.

The Korean Journal of Internal Medicine, 2020

Impact of Mutational Profile on the Management of Myeloproliferative Neoplasms: A Short Review of the Emerging Data.

Loscocco GG et al.

Oncotargets and Therapy, 2020

Concomitant and noncanonical JAK2 and MPL mutations in JAK2V617F- and MPLW515 L-positive myelofibrosis.

Schulze S et al.

Genes, Chromosomes & Cancer, 2019

Philadelphia-Negative Myeloproliferative Neoplasms: Laboratory Workup in the Era of Next-Generation Sequencing.

Zuo Z et al.

Current Hematologic Malignancy Reports, 2019

MPL Y252H anMd PL F126fs mutations in essential thrombocythemia: Case series and review of literature.

Elsayed AG et al.

Hematology Reports, 2019

Mutation profiling by targeted sequencing of "triple-negative" essential thrombocythaemia patients.

Ju M et al.

British Journal of Haematology, 2018

Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms.

Rumi E et al.

Blood, 2017

Molecular characterisation of triple negative essential thrombocythaemia patients by platelet analysis and targeted sequencing.

Angona A et al.

Blood Cancer Journal, 2016

Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms.

Milosevic Feenstra JD et al.

Blood, 2016

Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients.

Cabagnols X et al.

Blood, 2016

Landscape of genetic lesions in 944 patients with myelodysplastic syndromes.

Haferlach T et al.

Leukemia, 2014

24220272 (PubMed )
Supplement: leu2013336x2.doc

Different mutations of the human c-mpl gene indicate distinct haematopoietic diseases.

He X et al.

Journal of Hematology & Oncology, 2013

Thrombocytosis.

Skoda RC

Hematology. American Society of Hematology. Education Program, 2009

Genetic profiling of myeloproliferative disorders by single-nucleotide polymorphism oligonucleotide microarray.

Kawamata N et al.

Experimental Hematology, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."