Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

MPL mutations in essential thrombocythemia uncover a common path of activation with eltrombopag dependent on W491.

Blood - 19 Mar 2020

Levy Gabriel, Carillo Serge, Papoular Benjamin, Cassinat Bruno, Zini Jean-Marc, Leroy Emilie, Varghese Leila N, Chachoua Ilyas, Defour Jean-Philippe, Smith Steven O, Constantinescu Stefan N

Abstract excerpt

Mutations in the MPL gene encoding the human thrombopoietin receptor (TpoR) drive sporadic and familial essential thrombocythemias (ETs). We identified 2 ET patients harboring double mutations in cis in MPL, namely, L498W-H499C and H499Y-S505N. Using biochemical and signaling assays along with partial saturation mutagenesis, we showed that L498W is an activating mutation potentiated by H499C and that H499C and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Benzoates

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Line

Share to Genetic Association Studies

Share to Hydrazines

Share to Pyrazoles

Share to Receptors, Thrombopoietin

Share to Thrombocythemia, Essential

Source

Identifiers

PMID: 31978223
DOI: 10.1182/blood.2019003240

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MPL mutations in essential thrombocythemia uncover a common path of activation with eltrombopag dependent on W491.PMID 31978223Read ↗

Identification of putative noncanonical driver mutations in patients with essential thrombocythemia.Semantic proximity Read ↗

Novel drivers and modifiers of MPL-dependent oncogenic transformation identified by deep mutational scanning.Semantic proximity Read ↗

Modulation of human thrombopoietin receptor conformations uncouples JAK2 V617F-driven activation from cytokine-induced stimulation.Semantic proximity Read ↗

Shared and distinct sequence-function signatures define different modes of human TpoR activationSemantic proximity Read ↗

In silico analysis of Missense Variants in Human MPL Gene Associated with Essential ThrombocythemiaSemantic proximity Read ↗

Screening for MPL mutations in essential thrombocythemia and primary myelofibrosis: normal Mpl expression and absence of constitutive STAT3 and STAT5 activation in MPLW515L-positive platelets.Semantic proximity Read ↗

Effects of clinically relevant MPL mutations in the transmembrane domain revealed at the atomic level through computational modeling.Semantic proximity Read ↗

Role of receptor tyrosine kinase transmembrane domains in cell signaling and human pathologies.Semantic proximity Read ↗

Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.Semantic proximity Read ↗

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.Semantic proximity Read ↗

The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polaritySemantic proximity Read ↗

Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.