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

ESAM Loss of Function and Congenital Neurovascular Injury: Strengthening the Case for a Recognizable Clinical Phenotype.

Clinical genetics - 1 Jun 2026

Alomari Omar, Şentürk Zülal Emel, Güney Beyzanur, Ayaz Akif, Sager Safiye Güneş

Abstract excerpt

This schematic illustrates the genetic, molecular, and clinical consequences of ESAM loss-of-function variants identified in two unrelated Turkish families. Family 1 harbors a splice-site variant (c.451 + 5G>C) predicted to cause aberrant splicing between exons 3 and 4, leading to defective mRNA processing and loss of functional ESAM protein. Family 2 carries a nonsense variant (c.605 T>G; p.Leu202Ter) that...

Read the complete abstract on PubMed

Topics

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

Share to Blood-Brain Barrier
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Loss of Function Mutation

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 41525715
DOI: 10.1111/cge.70140

Genes

ESAM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ESAM Loss of Function and Congenital Neurovascular Injury: Strengthening the Case for a Recognizable Clinical Phenotype.PMID 41525715Read ↗

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.Semantic proximity Read ↗

Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review.Semantic proximity Read ↗

Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells.Semantic proximity Read ↗

Genetic syndromes with vascular malformations – update on molecular background and diagnosticsSemantic proximity Read ↗

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.Semantic proximity Read ↗

Cerebral cavernous malformations as a disease of vascular permeability: from bench to bedside with caution.Semantic proximity Read ↗

Endothelial cell disease: emerging knowledge from cerebral cavernous malformationsSemantic proximity Read ↗

Cerebral Cavernous Malformation Proteins in Barrier Maintenance and RegulationSemantic proximity Read ↗

Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasisSemantic proximity Read ↗

Endothelial exocytosis of angiopoietin-2 resulting from CCM3 deficiency contributes to cerebral cavernous malformationSemantic proximity Read ↗

Novel EPHB4 mutation in capillary malformation-arteriovenous malformation syndrome 2 (CM-AVM2): the first genetic study in AsiansSemantic proximity Read ↗

GPRASP1 loss-of-function links to arteriovenous malformations by endothelial activating GPR4 signalsSemantic proximity Read ↗

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