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Departments of, Nephrology and General Medicine, Pathology, Department of Pathology and Neuropathology, Department of Urology, Institute of Pathology, Department of Urology, Division of Clinical Chemistry, Otolaryngology, Genomic Medicine Institute, Taussig Cancer Institute, University Medical Center, Albert‐Ludwigs‐University, Freiburg, Germany
Departments of, Nephrology and General Medicine, Pathology, Department of Pathology and Neuropathology, Department of Urology, Institute of Pathology, Department of Urology, Division of Clinical Chemistry, Otolaryngology, Genomic Medicine Institute, Taussig Cancer Institute, University Medical Center, Albert‐Ludwigs‐University, Freiburg, Germany
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Ringel MD Eng C 2012 Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53 . Human Molecular Genetics 21 300 – 310 . doi:10.1093/hmg/ddr459 . Pavlovich
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Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands
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-density genotyping arrays, FISH or karyotype In an SDHx-derived model The cell line should show low or absent SDHB protein expression ( SDHA, B , C & D mutated) or SDHA (in case of SDHA mutation) Establish the identity of proliferating cells
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the time, defects in genes putatively related to hypoxia signaling pathways such as VHL (von Hippel–Lindau), EGLN1 , and SDHx (succinate dehydrogenase complex genes) had been associated with neural crest tumors prior to our discovery ( Neumann
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SDHB -silenced cells, resembling those found in human SDHx mutated Pheos/PGLs, whereas in 2D cultures, SDHB -silenced cell mitochondria did not differ from the ones in control cells ( Fig. 3 ). The use of spheroids does not just mean using a system
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screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators . Journal of Clinical Endocrinology and Metabolism 98 E162 – E173 . ( doi:10.1210/jc.2012-2975 ). Gjuric M
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Assistance Publique – Hôpitaux de Marseille (AP-HM), Hôpital de la Conception, Centre de Référence des Maladies Rares Hypophysaires HYPO, Marseille, France
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Department of Surgery, Region Östergötland, Linköping, Sweden
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that retroperitoneal, pelvic and thoracic paraganglial tumors also showed germline mutations of any of the SDH genes ( SDHx ). Germline mutations in one of the SDH genes, especially the SDHD and SDHB gene, are found in 8–10% of hereditary
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dominant syndrome due to germline pathogenic variants in SDHA, SDHB , SDHC or SDHD (collectively referred to as SDHx) that predisposes to gastrointestinal tumours (GISTs), paragangliomas and adrenocortical tumours ( Carney & Stratakis 2002 ). These
Department of Urology, Xiangya Hospital, Central South University, Changsha, China
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Core Unit for Molecular Tumor Diagnostics (CMTD), National Center for Tumor Diseases (NCT), Partner Site Dresden, Dresden, Germany
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Department of Endocrinology, Diabetology and Clinical Nutrition, Universitätsspital Zürich (USZ) and University of Zurich (UZH), Zurich, Switzerland
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Department of Endocrinology, Diabetology and Clinical Nutrition, Universitätsspital Zürich (USZ) and University of Zurich (UZH), Zurich, Switzerland
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succinate dehydrogenase subunits A–D ( SDHx ), fumarate hydratase ( FH ), von Hippel-Lindau ( VHL ) tumor suppressor, endothelial PAS domain protein 1 ( EPAS1 or HIF2α ), prolyl hydroxylase domain-containing proteins 1/2 ( PHD1/2 ) and isocitrate
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Division of Heart and Lungs, Department of Medical Physiology, UMC Utrecht, Utrecht, the Netherlands
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rescue of the phenotype by maternal mRNA contribution from the yolk ( Harvey et al. 2013 , Despic & Neugebauer 2018 ) or alternative splicing ( Smits et al. 2019 ). Decreased aspartate has also been described in SDHx mutated PPGL-tumors and in
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Department of Oncogenetics, A.C. Camargo Cancer Center, São Paulo, Brazil
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National Institute of Science and Technology in Oncogenomics and Therapeutic Innovation (INCITO-INOTE), São Paulo, Brazil
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National Institute of Science and Technology in Oncogenomics and Therapeutic Innovation (INCITO-INOTE), São Paulo, Brazil
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Baudin E Buffet A Burnichon N Clifton-Bligh RJ Dahia PLM , 2021 International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers . Nature Reviews. Endocrinology 17 435 – 444 . ( https://doi.org/10.1038/s41574