Zobrazeno 1 - 10 of 13 pro vyhledávání: '"SDHD Gene Mutation"'
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Akademický článek
Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing
Autor: Johanna Braegelmann, Annie Mathew, Dagmar Führer‐Sakel, Harald Lahner
Publikováno v: Clinical Case Reports, Vol 12, Iss 4, Pp n/a-n/a (2024)
Key Clinical Messages The newly published clinical consensus guideline on the management of PGL/PCC is helpful for decision‐making for diagnostics and treatment. Still, the treatment of patients with SDHD gene mutations requires an individual appro
Externí odkaz: https://doaj.org/article/d228fa403746498ab0416de0a4a28738
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2
Sunitinib Treatment for Advanced Paraganglioma: Case Report of a Novel SDHD Gene Mutation Variant and Systematic Review of the Literature
Autor: Franz Sesti, Tiziana Feola, Giulia Puliani, Roberta Centello, Valentina Di Vito, Oreste Bagni, Andrea Lenzi, Andrea M. Isidori, Vito Cantisani, Antongiulio Faggiano, Elisa Giannetta
Publikováno v: Frontiers in Oncology, Vol 11 (2021)
Frontiers in Oncology
BackgroundParagangliomas (PGLs) are neuroendocrine neoplasms arising from chromaffin cells of sympathetic or parasympathetic paraganglia. Systemic therapies have been used only in metastatic PGLs. Antiangiogenic agents, such as sunitinib, could be a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::900ff7e9c709dfa19a04752f5b3cf19f
https://www.frontiersin.org/articles/10.3389/fonc.2021.677983/full
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3
SDHx gene detection and clinical Phenotypic analysis of multiple paraganglioma in the head and neck
Autor: Xiaohong Chen, Yiming Ding, Zhigang Huang, Yaru Feng, Michael J. Wells
Publikováno v: The Laryngoscope. 129:E67-E71
Objectives The goal of this study was to detect and explore the mechanisms of the succinate dehydrogenase (SDH) complex subunit-related gene mutations in cases of multiple paraganglioma (PGL) in the head and neck. Methods In Beijing Tongren Hospital
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::51512d856430c171b474724f74fc9040
https://doi.org/10.1002/lary.27509
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4
SDHD gene mutation in Mexican population with carotid body tumor
Autor: Alfonso Cossío-Zazueta, Jimena Gabriela Muñoz-Paredes, Yam Ontiveros-Carlos, María Elizabeth Enríquez-Vega, Ernesto Pacheco-Pittaluga, Héctor Bizueto-Rosas
Publikováno v: Cirugía y Cirujanos (English Edition). 86
Among the U.S. population, the p81L SDHD (11q23) gene mutation is present in 6-36% of patients with sporadic carotid body tumor (CBT), but in familial cases is high as 80%. That is why the P81L mutation is used as a screening method for carotid body
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c154ad1de4c542a274ce69f5de695a59
https://doi.org/10.24875/cirue.m18000005
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5
A family with pheochromocytoma-paraganglioma inherited tumour syndrome
Autor: B. Knie, D. Moskopp, M. Plotkin, V. Prasad, P. Zschieschang
Publikováno v: Nuklearmedizin. 55:34-40
SummaryAim: Hereditary pheochromocytoma-paraganglioma syndromes are characterized by multiple pheochromocytomas (PCC) and paragangliomas (PGLs), inherited in an autosomal dominant manner. Early detection and removal of tumours may prevent or minimize
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a03aa87b4249fa6c935624455dc283
https://doi.org/10.3413/nukmed-0755-15-07
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Extraadrenal pheochromocytoma associated to SDHD gene mutation
Autor: Nikolett Lendvai, Ildikó Kuritárné Szabó, Gabriella Bekő, Attila Patócs, Sándor Alföldi, Károly Rácz, János Horányi, Henriett Butz, István Szabó, Mária Tarjányi
Publikováno v: Orvosi Hetilap. 150:645-649
Hereditary paraganglioma/pheochromocytoma syndrome is an autosomal dominantly inherited disease caused by germline mutation of the genes encoding subunits of the mitochondrial succinate dehydrogenase (SDH) enzyme involved in the mitochondrial respira
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f41ed9acffb1cf4c5d935dd60e93b49
https://doi.org/10.1556/oh.2009.28587
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8
Carotid Body Paraganglioma With an SDHD Gene Mutation: The Need For Genetic Testing
Autor: Kalyan Chakravarthy Potu, Vishal Bhatia, Kashif Shaikh, Brandy Pownell
Publikováno v: AACE Clinical Case Reports, Vol 2, Iss 2, Pp e91-e95 (2016)
Objective: To report a case of carotid body paraganglioma occurring in conjunction with a succinate dehydrogenase complex subunit D (SDHD) gene mutation with comorbidities of multiple retroperitoneal paragangliomas and pheochromocytoma. This case emp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8304dd46eff507a4a0c9be0ada62270b
http://www.sciencedirect.com/science/article/pii/S2376060520302960
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9
Predominant expression of mutated allele of the succunate dehydrogenase D (SDHD) gene in the SDHD-related paragangliomas
Autor: Michinori Takahashi, Mitsuhide Naruse, Kenji Honkura, Sho Hashimoto, Kazutsugu Iwamoto, Akira Shimatsu, Takeshi Usui, Rika Yamashita, Eiken Kodama, Hiroyoshi Suzuki, Kazuro Kaise, Tetsuya Tagami
Publikováno v: Endocrine journal. 56(9)
Recent studies indicate that succinate dehydrogenase (SDH) genes B, C, or D are, at least partly, involved in the pathogenesis of pheochromocytoma or paraganglioma. Of these three genes, the SDHD gene mutation is most closely related with paraganglio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bf05425508b2c5e199aa20504ca8339
https://pubmed.ncbi.nlm.nih.gov/19550080
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