Article

Metabolic context and cellular ploidy enable functional classification of SDHB exon3 variants

2026-08-21

Abstract excerpt

<title>Abstract</title> <p> Loss-of-function variants in <italic>SDHB</italic> , encoding an iron-sulfur subunit of mitochondrial complex II, predispose to hereditary pheochromocytoma and paraganglioma (PPGL), with metastatic disease developing in up to 30% of affected individuals. Yet 47% of germline <italic>SDHB</italic> single-nuceotide variants reported in ClinVar remain variants of uncertain significanc...

Topics

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

Identifiers and source

Literature Corpus work: 64097690-d55a-5579-950b-094039b14497
DOI: 10.21203/rs.3.rs-10666421/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Metabolic context and cellular ploidy enable functional classification of SDHB exon3 variantsDOI 10.21203/rs.3.rs-10666421/v1Read

Functional interpretation, cataloging, and analysis of 1,341 known and new glucose-6-phosphate dehydrogenase variantsSemantic proximity Read

A Novel Human SDHA-Knockout Cell Line Model for the Functional Analysis of Clinically Relevant SDHA Variants.Semantic proximity Read

Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase BSemantic proximity Read

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationSemantic proximity Read

A study of succinate dehydrogenase deficient tumourigenesis : from functional assessment of variant pathogenicity to the discovery of new disease biomarkersSemantic proximity Read

Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.Semantic proximity Read

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationSemantic proximity Read

Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance.Semantic proximity Read

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.Semantic proximity Read

Refined classification and phenotype-driven analysis of PIEZO1 variants in hereditary red blood cell and iron disorders.Semantic proximity Read

Structural and functional consequences of succinate dehydrogenase subunit B mutations.Semantic proximity Read

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.Semantic proximity Read