Zobrazeno 1 - 10
of 445
pro vyhledávání: '"Hereditary Paraganglioma"'
Publikováno v:
Endocrine Oncology, Vol 4, Iss 1, Pp 1-7 (2024)
This commentary explores the complexities faced by clinicians when encountering a secondary SDHA pathogenic variant (PV) in patients without a personal or family history of SDHA-related tumors. The increasing use of germline multi-gene panel testing
Externí odkaz:
https://doaj.org/article/4710be4a7e7e4005a83330d74c2ee2a1
Publikováno v:
Journal of Biomedical Science, Vol 29, Iss 1, Pp 1-11 (2022)
Abstract Succinate is a tricarboxylic acid (TCA) cycle intermediate normally confined to the mitochondrial matrix. It is a substrate of succinate dehydrogenase (SDH). Mutation of SDH subunits (SDHD and SDHB) in hereditary tumors such as paraganglioma
Externí odkaz:
https://doaj.org/article/6b3d653c9ac744639216537f3b955b97
Autor:
Shin Kawanabe, Takuyuki Katabami, Ryuichi Oshima, Nobuyuki Yanagisawa, Masakatsu Sone, Noriko Kimura
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2023)
Pheochromocytomas and paragangliomas (PGLs) are rare non-epithelial neuroendocrine neoplasms of the adrenal medulla and extra-adrenal paraganglia respectively. Duodenal PGL is quite rare and there are only two previous reports. Herein, we report a ca
Externí odkaz:
https://doaj.org/article/0116f22761ab4b938980021ad946d7dc
Autor:
Kay Reen Ting, Pei Yi Ong, Samuel Ow Guan Wei, Rajeev Parameswaran, Chin Meng Khoo, Doddabele Srinivasa Deepak, Soo-Chin Lee
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 18, Iss 1, Pp 1-11 (2020)
Abstract Background Hereditary paraganglioma (PGL) and pheochromocytoma (PCC) syndromes are rare conditions, with limited data on spectrum of causative gene variants of these syndromes in Asian patients. Methods We describe the clinical characteristi
Externí odkaz:
https://doaj.org/article/cb7eba1770604ae8ac290da41d9c73a5
Akademický článek
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Autor:
Luke O. Buchmann, Bonita Bennett, Debbie L. Cohen, Michelle F. Jacobs, Lauren Fishbein, Anne Naumer, Maria Bonanni, Heather Wachtel, Katherine L. Nathanson, Amanda Schaefer, Samantha Greenberg, Amanda Anson, Tobias Else, Wendy Kohlmann
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Minimal data exist regarding the efficacy of screening protocols for individuals with SDHx germline pathogenic variants with Hereditary Paraganglioma-Pheochromocytoma Syndrome. This study aimed to evaluate the SDHx-related tumor detection ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12bafe2f5dbb44a6cba712f373cf167e
https://doi.org/10.1038/s41436-020-0921-3
https://doi.org/10.1038/s41436-020-0921-3
Autor:
Piotr Jędrusik, Jarosław Góra, Zbigniew Gaciong, Grzegorz Placha, Sadegh Toutounchi, Jolanta Kunikowska, Izabela Łoń
Publikováno v:
Intractable & Rare Diseases Research. 10:207-213
Familial paraganglioma may be related to mutations in succinate dehydrogenase (SDH) enzyme complex genes. Among patients with hereditary paraganglioma, SDH subunit B (SDHB) gene mutations are associated with the highest morbidity and mortality relate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1cb3eba1288baa256c5dd467a05d232
https://doi.org/10.5582/irdr.2021.01047
https://doi.org/10.5582/irdr.2021.01047
Autor:
Reshma Bholah, Timothy Edward Bunchman
Publikováno v:
Frontiers in Pediatrics, Vol 5 (2017)
Pheochromocytoma (PCC) and paraganglioma (PGL) are rare chromaffin cell tumors which secrete catecholamines and form part of the family of neuroendocrine tumors. Although a rare cause of secondary hypertension in pediatrics, the presentation of hyper
Externí odkaz:
https://doaj.org/article/eb2e789cd05b40e78ff02c466842361e
Autor:
Judith Favier, Patricia L. M. Dahia, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Jean-Pierre Bayley, Amira Mohamed, Delphine Mirebeau-Prunier, Mercedes Robledo, Rodrigo A. Toledo, Nelly Burnichon, Anne Barlier, Francesca Schiavi, Roderick J. Clifton-Bligh, Alberto Cascón, Sophie Giraud, Laurene Ben Aim, Tonino Ercolino, Eamonn R. Maher
Publikováno v:
Scientia
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Funder: Cancer Research UK Cambridge Cancer Centre
Background: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of pat
Background: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27bcc940176677a14752394cc9be5864
https://hdl.handle.net/11351/9696
https://hdl.handle.net/11351/9696
Publikováno v:
Cureus
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome is an uncommon genetic condition featured by an inherited predisposition to generate PGLs. Surgical resection of all tumors is the standard treatment for excess adrenaline production and te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16c9b731824c45325aaa426a13fc603f
http://europepmc.org/articles/PMC8412883
http://europepmc.org/articles/PMC8412883