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

Characterisation of a novel thrombomodulin c.1487delC,p.(Pro496Argfs*10) variant and evaluation of therapeutic strategies to manage the rare bleeding phenotype.

Thrombosis research - 1 Jan 2021

Morrow Gael B, Beavis James, Harper Sarah, Bignell Patricia, Laffan Mike A, Curry Nicola

Abstract excerpt

INTRODUCTION: A novel variant in the thrombomodulin (TM) gene, c.1487delC,p.(Pro496Argfs*10), referred to as Pro496Argfs*10, was identified in a family with an unexplained bleeding disorder. The Pro496Argfs*10 variant results in loss of the transmembrane and intracellular segments of TM and is associated with an increase in soluble TM (sTM) in the plasma. The aim of this study was to characterise the effect of...

Read the complete abstract on PubMed

Topics

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

Share to Carboxypeptidase B2
Share to Fibrinolysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Thrombin

Share to Thrombomodulin

Source

Identifiers

PMID: 33190022
DOI: 10.1016/j.thromres.2020.11.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterisation of a novel thrombomodulin c.1487delC,p.(Pro496Argfs*10) variant and evaluation of therapeutic strategies to manage the rare bleeding phenotype.PMID 33190022Read ↗

Functional assessment of genetic variants in thrombomodulin detected in patients with bleeding and thrombosisSemantic proximity Read ↗

Molecular pathophysiology of thrombotic states and their impact to laboratory diagnostics.Semantic proximity Read ↗

Thrombomodulin Arg403Lys mutation impairs protein C activation and increases thrombosis risk.Semantic proximity Read ↗

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.Semantic proximity Read ↗

Novel p.C252G and p.C280X mutations in the epidermal growth factor-1 domain of thrombomodulin lead to a thrombosis-bleeding syndrome.Semantic proximity Read ↗

Characterization of an autosomal dominant bleeding disorder caused by a thrombomodulin mutation.Semantic proximity Read ↗

Antithrombin Debrecen (p.Leu205Pro) - Clinical and molecular characterization of a novel mutation associated with severe thrombotic tendency.Semantic proximity Read ↗

Effect of five therapeutic strategies on the coagulation defect induced by the thrombomodulin c.1611C>A mutation.Semantic proximity Read ↗

Thrombomodulin as a regulator of the anticoagulant pathway: implication in the development of thrombosis.Semantic proximity Read ↗

Asn384Ser Mutation in Protein C is Associated with Multiple-Site Thrombosis in a Young Heterozygous Male.Semantic proximity Read ↗

Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype.Semantic proximity Read ↗

Prothrombin Arg541Trp Mutation Leads to Defective PC (Protein C) Pathway Activation and Constitutes a Novel Genetic Risk Factor for Venous Thrombosis.Semantic proximity Read ↗

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