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

Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy.

International journal of molecular sciences - 11 Jul 2024

Wijnsma Kioa L, Schijvens Anne M, Bouwmeester Romy N, Aarts Lonneke A M, van den Heuvel Lambertus Bert P, Haaxma Charlotte A, van de Kar Nicole C A J

Abstract excerpt

Thrombotic microangiopathy (TMA) in association with RNA exosome encoding mutations has only recently been recognized. Here, we present an infant (female) with an EXOSC5 mutation (c.230_232del p.Glu77del) associated with the clinical phenotype known as CABAC syndrome (cerebellar ataxia, brain abnormalities, and cardiac conduction defects), including pontocerebellar hypoplasia, who developed renal TMA. At the age...

Read the complete abstract on PubMed

Topics

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

Share to Antibodies, Monoclonal, Humanized
Share to Exosome Multienzyme Ribonuclease Complex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exosomes

Share to Infant

Share to Mutation

Share to RNA-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 39062862
DOI: 10.3390/ijms25147604
PMCID: PMC11277116

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy.PMID 39062862Read ↗

Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation.Semantic proximity Read ↗

Risk of sudden cardiac death in EXOSC5-related disease.Semantic proximity Read ↗

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation.Semantic proximity Read ↗

Whole-Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak SyndromeSemantic proximity Read ↗

Genomic analysis of adult thrombotic microangiopathies in less than 3 days: from rapid to fast genomics to treatmentSemantic proximity Read ↗

Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel diseaseSemantic proximity Read ↗

Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous EIF2B3 gene variantsSemantic proximity Read ↗

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.Semantic proximity Read ↗

First case of TREX1 mutation-driven retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations coexisting with lupus nephritis: a case report and mechanistic discussion.Semantic proximity Read ↗

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.Semantic proximity Read ↗

Pontine autosomal dominant microangiopathy with leukoencephalopathy in a Hispanic man without a family history.Semantic proximity Read ↗

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.Semantic proximity Read ↗

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