LAUSR

About LAUSR
Donate
Contact Us

Follow us:

You are not signed in:

Sign Up!


   Articles with "sdhb sdhd" as a keyword



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

Sign Up to like & get
recommendations! 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 & get
recommendations! 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 & get
recommendations! 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 & get
recommendations! 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