Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S et al.
Blood Cancer Discovery, 2024
SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.
Kaplan AI et al.
Endocrine-related Cancer, 2024
A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report.
Dai Z et al.
Oncology Letters, 2024
Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
Giger OT et al.
Journal of Clinical Pathology, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.
Kamai T et al.
Cancer Science, 2021
Gene Expression Landscape of SDH-Deficient Gastrointestinal Stromal Tumors.
Indio V et al.
Journal of Clinical Medicine, 2021
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.
Pantaleo MA et al.
Frontiers in Oncology, 2021
The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein.
Sharma P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.
Liu M et al.
Translational Lung Cancer Research, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
Ben Aim L et al.
Journal of Medical Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.
Nicolas E et al.
Molecular Genetics & Genomic Medicine, 2019
Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).
Maniam P et al.
Journal of the Endocrine Society, 2018
Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.
Casey RT et al.
Jco Precision Oncology, 2018
SDH-deficient renal cell carcinoma associated with biallelic mutation in succinate dehydrogenase A: comprehensive genetic profiling and its relation to therapy response.
McEvoy CR et al.
Npj Precision Oncology, 2018
Dual loss of succinate dehydrogenase (SDH) and complex I activity is necessary to recapitulate the metabolic phenotype of SDH mutant tumors.
Lorendeau D et al.
Metabolic Engineering, 2017
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Casey RT et al.
Molecular Genetics & Genomic Medicine, 2017
Utility of the succinate: Fumarate ratio for assessing SDH dysfunction in different tumor types.
Kim E et al.
Molecular Genetics and Metabolism Reports, 2017
Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-type GIST).
Nannini M et al.
Bmc Cancer, 2014
Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.
Miettinen M et al.
The International Journal of Biochemistry & Cell Biology, 2014
Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.
Pantaleo MA et al.
European Journal of Human Genetics : Ejhg, 2014
An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).
Nannini M et al.
Journal of Medical Genetics, 2013
Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.
Wagner AJ et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2013
Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma.
Galan SR et al.
Clinical Endocrinology, 2013
Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.
Belinsky MG et al.
Frontiers in Oncology, 2013
Flavinylation and assembly of succinate dehydrogenase are dependent on the C-terminal tail of the flavoprotein subunit.
Kim HJ et al.
The Journal of Biological Chemistry, 2012
Structural basis for malfunction in complex II.
Iverson TM et al.
The Journal of Biological Chemistry, 2012
A distinct pediatric-type gastrointestinal stromal tumor in adults: potential role of succinate dehydrogenase subunit A mutations.
Pantaleo MA et al.
The American Journal of Surgical Pathology, 2011
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.
Korpershoek E et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.
Pantaleo MA et al.
Journal of the National Cancer Institute, 2011
Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma.
Hensen EF et al.
Familial Cancer, 2011
Genetic testing for pheochromocytoma.
Karasek D et al.
Current Hypertension Reports, 2010
SDHA is a tumor suppressor gene causing paraganglioma.
Burnichon N et al.
Human Molecular Genetics, 2010