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Susan Richter et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 21(3), 705-717 (2018-07-28)
Metabolic aberrations have been described in neoplasms with pathogenic variants (PV) in the Krebs cycle genes encoding succinate dehydrogenase (SDH), fumarate hydratase (FH) and isocitrate dehydrogenase (IDH). In turn, accumulation of oncometabolites succinate, fumarate, and 2-hydroxyglutarate can be employed to identify...
Pakavarin Louphrasitthiphol et al.
Pigment cell & melanoma research, 32(6), 792-808 (2019-06-18)
In response to the dynamic intra-tumor microenvironment, melanoma cells adopt distinct phenotypic states associated with differential expression of the microphthalmia-associated transcription factor (MITF). The response to hypoxia is driven by hypoxia-inducible transcription factors (HIFs) that reprogram metabolism and promote angiogenesis....
Virginie F Rhein et al.
The Journal of biological chemistry, 291(28), 14851-14860 (2016-05-27)
Complex I (NADH ubiquinone oxidoreductase) in mammalian mitochondria is an L-shaped assembly of 45 proteins. One arm lies in the inner membrane, and the other extends about 100 Å into the matrix of the organelle. The extrinsic arm contains binding...
Maria A Pantaleo et al.
European journal of human genetics : EJHG, 22(1), 32-39 (2013-04-25)
Mutations of genes encoding the subunits of the succinate dehydrogenase (SDH) complex were described in KIT/PDGFRA wild-type GIST separately in different reports. In this study, we simultaneously sequenced the genome of all subunits, SDHA, SDHB, SDHC, and SDHD in a...
Judith Favier et al.
PloS one, 4(9), e7094-e7094 (2009-09-19)
The Warburg effect describes how cancer cells down-regulate their aerobic respiration and preferentially use glycolysis to generate energy. To evaluate the link between hypoxia and Warburg effect, we studied mitochondrial electron transport, angiogenesis and glycolysis in pheochromocytomas induced by germ-line...
Yvan Jamilloux et al.
European journal of human genetics : EJHG, 22(2), 283-285 (2013-06-20)
Germline mutations of the MEN1 gene cause multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disorder characterized by tumors of the parathyroids, the pancreas, and the anterior pituitary. Paraganglioma (PGL) is a rare endocrine tumor, which can be sporadic...
Jung-Min Koh et al.
PloS one, 12(11), e0187398-e0187398 (2017-11-09)
The Grading system for Adrenal Pheochromocytoma and Paraganglioma (GAPP) was proposed for predicting the metastatic potential of pheochromocytoma and paraganglioma to overcome the limitations of the Pheochromocytoma of the Adrenal Scaled Score (PASS). However, to date, no study validating the...
Petra Bullova et al.
Oncotarget, 7(26), 40531-40545 (2016-10-27)
Hypoxia is a common feature of solid tumors that activates a plethora of pathways, resulting in proliferation and resistance of cancer cells to radio- and chemotherapy. Pheochromocytomas/paragangliomas (PHEOs/PGLs) with mutations in the gene coding for the subunit B of succinate...
Gaurav Agarwal et al.
Indian journal of endocrinology and metabolism, 23(4), 486-490 (2019-11-20)
Pheochromocytomas (PCCs) and Paragangliomas (PGL) are rare catecholamine producing tumors that may present in sporadic or familial settings. Despite vast strides in understanding of PCC/PGL genetics in the last two decades, there is a dearth of information from India. The...
Manuraj Pandey et al.
Toxicology and applied pharmacology, 280(2), 296-304 (2014-08-30)
In the present study, we showed the correlation of EZH2, SUV39H1 or G9a expression and histone modifications with the urethane induced mouse lung tumorigenesis in the presence or absence of antitumor agent, inositol hexaphosphate (IP6). Tumorigenesis and the molecular events...
Letizia Canu et al.
The Journal of clinical endocrinology and metabolism, 99(7), 2321-2326 (2014-04-25)
About 35% of patients with pheochromocytoma/paraganglioma carry a germline mutation in one of the 10 main susceptibility genes. The recent introduction of next-generation sequencing will allow the analysis of all these genes in one run. When positive, the analysis is...
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma
Gimenez-Roqueplo AP, et al.
The Journal of Clinical Endocrinology and Metabolism, 87(10), 4771-4774 (2002)
Paal W Wallace et al.
The Journal of pathology, 251(4), 378-387 (2020-05-29)
Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours with a hereditary background in over one-third of patients. Mutations in succinate dehydrogenase (SDH) genes increase the risk for PPGLs and several other tumours. Mutations in subunit B (SDHB) in particular are...
Mélanie Menara et al.
The Journal of clinical endocrinology and metabolism, 100(2), E287-E291 (2014-11-19)
Pheochromocytomas (PCC) and paragangliomas (PGL) may be caused by a germline mutation in 12 different predisposing genes. We previously reported that immunohistochemistry is a useful approach to detect patients harboring SDHx mutations. SDHA immunostaining is negative in SDHA-mutated tumors only...
Charlotte Lussey-Lepoutre et al.
European journal of nuclear medicine and molecular imaging, 47(6), 1510-1517 (2019-12-14)
Germline mutations in genes encoding succinate dehydrogenase (SDH) are frequent in patients with pheochromocytoma and paraganglioma (PPGL). They lead to SDH inactivation, mediating a massive accumulation of succinate, which constitutes a highly specific biomarker of SDHx-mutated tumors when measured in...
Noriko Kimura et al.
Endocrine-related cancer, 21(3), 405-414 (2014-02-14)
Phaeochromocytomas (PHEO) and paragangliomas are rare catecholamine-producing tumours. Although 10-30% of these tumours metastasise, histopathological criteria to discriminate malignant from benign tumours have not been established; therefore, reliable histopathological markers predicting metastasis are urgently required. A total of 163 tumours...
Céline Loriot et al.
The Journal of clinical endocrinology and metabolism, 97(6), E954-E962 (2012-04-12)
Pheochromocytoma and paraganglioma are rare neural-crest-derived tumors. They are metastatic in 15% of cases, and the identification of a germline mutation in the SDHB gene is a predictive risk factor for malignancy and poor prognosis. To date, the link between...
Margherita Nannini et al.
BMC cancer, 14, 685-685 (2014-09-23)
About 10-15% of adult gastrointestinal stromal tumors (GIST) and the vast majority of pediatric GIST do not harbour KIT or platelet-derived growth factor receptor alpha (PDGFRA) mutations (J Clin Oncol 22:3813-3825, 2004; Hematol Oncol Clin North Am 23:15-34, 2009). The...
Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.
Maignan, et al.
Langenbeck'S Archives of Surgery / Deutsche Gesellschaft Fur Chirurgie, 402, 787-798 (2021)
Thomas G Papathomas et al.
European journal of endocrinology, 170(1), 1-12 (2013-10-08)
Although the succinate dehydrogenase (SDH)-related tumor spectrum has been recently expanded, there are only rare reports of non-pheochromocytoma/paraganglioma tumors in SDHx-mutated patients. Therefore, questions still remain unresolved concerning the aforementioned tumors with regard to their pathogenesis, clinicopathological phenotype, and even...
Jean-Pierre Bayley et al.
BMC medical genetics, 15, 111-111 (2014-10-11)
The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas...
Marjorie Desmurs et al.
Molecular and cellular biology, 35(7), 1139-1156 (2015-01-22)
Mammalian mitochondria may contain up to 1,500 different proteins, and many of them have neither been confidently identified nor characterized. In this study, we demonstrated that C11orf83, which was lacking experimental characterization, is a mitochondrial inner membrane protein facing the...
Céline Loriot et al.
Oncotarget, 6(32), 32955-32965 (2015-10-16)
Metastatic pheochromocytomas and paragangliomas (PPGL) are malignant neuroendocrine tumors frequently associated with germline mutations in the SDHB gene. SDHB-mutated PPGL display a hypermethylator phenotype associated with hallmarks of epithelial-to-mesenchymal transition (EMT). In the present study, we report the characterization of...
Despoina Alataki et al.
Virchows Archiv : an international journal of pathology, 457(5), 619-622 (2010-09-16)
Catecholamine-producing tumours are called pheochromocytomas when they are located in the adrenal gland and sympathetic paragangliomas when they are located elsewhere in the abdomen. Rarely these tumours do not produce catecholamines and even more rarely they arise in the spermatic...
Ahmad Ibrahim et al.
Archives of pathology & laboratory medicine, 144(5), 655-660 (2019-06-07)
Succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumor (GIST) is a subset of wild-type GIST that constitutes approximately 10% of gastric GISTs. SDH-mutated GISTs lack mutations in the proto-oncogene receptor tyrosine kinase (also known as KIT, c-KIT, or CD117) or platelet-derived growth...
Yi Xiao et al.
Cancer research, 80(18), 3830-3840 (2020-07-23)
Chromophobe renal cell carcinoma (chRCC) and renal oncocytoma are closely related, rare kidney tumors. Mutations in complex I (CI)-encoding genes play an important role in dysfunction of the oxidative phosphorylation (OXPHOS) system in renal oncocytoma, but are less frequently observed...
Annika Blank et al.
Endocrine-related cancer, 17(4), 919-928 (2010-08-13)
Prediction of malignant behaviour of pheochromocytomas/sympathetic paragangliomas (PCCs/PGLs) is very difficult if not impossible on a histopathological basis. In a familial setting, it is well known that succinate dehydrogenase subunit B (SDHB)-associated PCC/PGL very often metastasise. Recently, absence of SDHB...
Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function
Yang C, et al.
Faseb Journal, 26(11), 4506-4516 (2012)
Tae Hoon Roh et al.
Scientific reports, 9(1), 5873-5873 (2019-04-12)
Succinate dehydrogenase (SDH) is a mitochondrial enzyme that plays an important role in both the Krebs cycle and the electron transport chain. SDH inactivation is associated with tumorigenesis in certain types of tumor. SDH consists of subunits A, B, C...
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