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Article

A FBN1 3′UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome

29 Oct 2018

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30385411
DOI: 10.1016/j.bbadis.2018.10.029

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Related research

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A FBN1 3′UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndromePMID 30385411Read ↗

A novel FBN1 mutation in Marfan's syndrome with giant aortic root aneurysm.Semantic proximity Read ↗

Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic DiseaseSemantic proximity Read ↗

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis Marfan syndromeSemantic proximity Read ↗

Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection.Semantic proximity Read ↗

Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation.Semantic proximity Read ↗

Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.Semantic proximity Read ↗

Specific miRNA and Gene Deregulation Characterize the Increased Angiogenic Remodeling of Thoracic Aneurysmatic Aortopathy in Marfan SyndromeSemantic proximity Read ↗

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.Semantic proximity Read ↗

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.Semantic proximity Read ↗

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive ImpairmentSemantic proximity Read ↗

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.Semantic proximity Read ↗

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSemantic proximity Read ↗

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