Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
Sign Up to like & getrecommendations! Published in 2021 at "Genetics in Medicine"
DOI: 10.1016/j.gim.2021.08.004
Abstract: Purpose The weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas (PCC/PGL), is uncertain. Methods We… read more here.
Keywords: vrmv; pathogenicity; sdhb sdhd; evidence ... See more keywords
SDHB and SDHD silenced pheochromocytoma spheroids respond differently to tumour microenvironment and their aggressiveness is inhibited by impairing stroma metabolism
Sign Up to like & getrecommendations! Published in 2022 at "Molecular and Cellular Endocrinology"
DOI: 10.1016/j.mce.2022.111594
Abstract: Germline mutations in more than 20 genes, including those encoding for the succinate dehydrogenase (SDH), predispose to rare tumours, such as pheochromocytoma/paraganglioma (PPGL). Despite encoding for the same enzymatic complex, SDHC and SDHD mutated PHEO/PGLs… read more here.
Keywords: sdhd; metabolism; sdhb sdhd; migration ... See more keywords
Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients
Sign Up to like & getrecommendations! Published in 2018 at "Endocrine Connections"
DOI: 10.1530/ec-18-0325
Abstract: Pheochromocytoma and paragangliomas (PCC/PGL) are neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla and sympathetic/parasympathetic ganglia, respectively. Of clinical relevance regarding diagnosis is the highly variable presentation of symptoms in PCC/PGL patients.… read more here.
Keywords: pcc pgl; pgl patients; germline sdhb; expression ... See more keywords
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.
Sign Up to like & getrecommendations! Published in 2023 at "Endocrine-related cancer"
DOI: 10.1530/erc-22-0233
Abstract: Phaeochromocytoma and paraganglioma are highly heritable tumours; half of those associated with a germline mutation are caused by mutations in genes for Krebs's cycle enzymes, including succinate dehydrogenase (SDH). Inheritance of SDH alleles is assumed… read more here.
Keywords: trd; transmission; cohort; sdhb sdhd ... See more keywords