Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.F104S
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MPL

NM_005373.3:p.F104S

Associated Papers

Structural basis of MPL activation by thrombopoietin.

Mafi A et al.

Blood Vessels, Thrombosis & Hemostasis, 2024

Cryo-EM structure of the extracellular domain of murine Thrombopoietin Receptor in complex with Thrombopoietin.

Sarson-Lawrence KTG et al.

Nature Communications, 2024

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

CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.

Germeshausen M et al.

Haematologica, 2021

Thrombopoietin receptor agonists in hereditary thrombocytopenias.

Rodeghiero F et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM2_ESM.pdf

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

The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.

Stockklausner C et al.

Blood, 2015

Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.

Pecci A

International Journal of Hematology, 2013

Congenital amegakaryocytic thrombocytopenia.

Geddis AE

Pediatric Blood & Cancer, 2011

F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents.

Fox NE et al.

Experimental Hematology, 2010

Advances in the understanding of congenital amegakaryocytic thrombocytopenia.

Ballmaier M et al.

British Journal of Haematology, 2009

19388932 (PubMed )
Supplement: supplement_1.pdf

Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.

Fox NE et al.

Experimental Hematology, 2009

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

Germeshausen M et al.

Human Mutation, 2006

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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."