Article

Genetic and Epigenetic Dysregulation of CR1 is Associated with Catastrophic Antiphospholipid Syndrome (CAPS)

2025-05-05

Abstract excerpt

<h4>Objective</h4> Catastrophic antiphospholipid syndrome (CAPS), characterized by widespread thrombosis and multi-organ failure, is associated with high morbidity and mortality. We previously established complement activation as a pathogenic driver of CAPS and identified rare germline variants in complement-regulatory genes including Complement Receptor 1 ( CR1 ) in 50% of CAPS. <h4>Methods</h4> We quantified...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6243ac67-0991-5fd0-ac8c-0831375c2a1f
DOI: 10.1101/2025.05.01.25326429

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic and Epigenetic Dysregulation of CR1 is Associated with Catastrophic Antiphospholipid Syndrome (CAPS)DOI 10.1101/2025.05.01.25326429Read

Genetic and epigenetic dysregulation of CR1 is associated with catastrophic antiphospholipid syndromeSemantic proximity Read

Catastrophic antiphospholipid syndrome accompanied by complement regulatory gene mutation.Semantic proximity Read

Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement DeficienciesSemantic proximity Read

Antiphospholipid syndrome: Complement activation, complement gene mutations, and therapeutic implications.Semantic proximity Read

Diagnosis and management of catastrophic antiphospholipid syndrome.Semantic proximity Read

Elucidation of the low-expressing erythroid CR1 phenotype by bioinformatic mining of the GATA1-driven blood-group regulome.Semantic proximity Read

Case Report: Severe Complement-Mediated Thrombotic Microangiopathy in IgG4-Related Disease Secondary to Anti-Factor H IgG4 Autoantibodies.Semantic proximity Read

Update on hereditary C1q deficiency: pathophysiology, clinical presentation, genotype and management.Semantic proximity Read

Epigenetic regulation of complement C1Q gene expressionSemantic proximity Read

Mutations in complement regulatory proteins predispose to preeclampsia: a genetic analysis of the PROMISSE cohort.Semantic proximity Read

The structure, genetic polymorphisms, expression and biological functions of complement receptor type 1 (CR1/CD35).Semantic proximity Read

Complement activation is a crucial pathogenic factor in catastrophic antiphospholipid syndromeSemantic proximity Read