Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Background: The transcription factor (erythroblast transformation-specific-related gene) has been identified as a key regulator of vascular function by suppressing inflammation in endothelial cells (ECs). Dysregulation of due to genetic risk variants is linked to chronic inflammation in conditions such as atherosclerosis and aortic aneurysms.
Case Presentation: This research work investigates the role of the gene in the development of a systemic arterial aneurysm manifestation. Given the previous implication of in vascular development, we now report a loss-of-function variant (Leu212*) in the gene, segregating in a family with vascular pathologies. Multiple arterial aneurysms were observed in one family member, and early onset of vascular-associated stroke in another individual carrying the familial variant. Histological analysis of arterial aneurysm specimen showed comparable expression of ERG in endothelial cells of the vasa vasorum in samples from the patient and controls.
Conclusion: Our report discusses the possibility that loss-of-function variants in may act as a risk factor for arterial disease.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235746 | PMC |
| http://dx.doi.org/10.3389/fcvm.2025.1550523 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families.
Front Neurol
August 2025
Department of Rehabilitation Medicine, The First Affiliated Hospital, Fujian Medical University; National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Introduction: Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis (NA) caused by mutations in VPS13A (vacuole protein sorting-associated protein 13A). ChAc is characterized by the presence of spherocytes and neurological symptoms. This article reports two families with ChAc and summarizes some suggestive characteristics, providing an effective basis for clinicians to screen ChAc in the early stage and effectively reduce the misdiagnosis and missed diagnosis of this disease.
View Article and Find Full Text PDFLate onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous pathogenic variant.
J Rare Dis (Berlin)
September 2025
Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle Upon Tyne, UK.
is gene that encodes one of the cytochrome P450 superfamily enzymes involved in the breakdown of 1,25-dihydroxyvitamin D3. Genetic variants in lead to a range of phenotypical and biochemical presentations, including idiopathic infantile hypercalcemia, elevated concentrations of 1,25 dihydroxy vitamin D, adult onset nephrocalcinosis, hypercalciuria, hypercalcemia and nephrolithiasis. Here we present an adult female, aged 68 years of age who presented with intermittent abdominal pain, with a past medical history of hypertension.
View Article and Find Full Text PDFFunctional validation of the Nav1.5/R1432G Brugada syndrome variant using a Nav1.5 knockout iPSC-derived cardiomyocyte model.
Biochem Biophys Res Commun
September 2025
CERVO Brain Research Centre, Quebec City, QC, Canada; Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC, Canada. Electronic address:
Brugada syndrome is a rare inherited cardiac arrhythmia disorder primarily characterized by ventricular fibrillation, which can lead to sudden cardiac death. It follows an autosomal dominant pattern of inheritance and is most associated with dysfunction of the cardiac sodium channel Nav1.5.
View Article and Find Full Text PDFHeterozygous loss-of-function mutations are one established cause of isolated dystonia and hyposmia. Homozygous mutations have been reported in siblings with generalized dystonia and intellectual disability. encodes major [NM_001369387.
View Article and Find Full Text PDFBackground Over 300 mutations in have been identified as causes of early-onset Alzheimer's disease (EOAD). While these include missense mutations and a few insertions, deletions, or duplications, none result in open reading frame shifts, and all alter γ-secretase function to increase the long/short Aβ ratio. Methods We identified a novel heterozygous nonsense variant, c.
View Article and Find Full Text PDF