Associated Papers
Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype-Phenotype Relationships.
Lee S et al.
The Journal of Clinical Investigation, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Research progress on the pathogenesis of the SDHB mutation and related diseases.
Liu C et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.
Davidoff DF et al.
Endocrine-related Cancer, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma.
Bayley JP et al.
Journal of Medical Genetics, 2023
Expanding the clinicopathological spectrum of succinate dehydrogenase-deficient renal cell carcinoma with a focus on variant morphologies: a study of 62 new tumors in 59 patients.
Fuchs TL et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
SDHB knockout and succinate accumulation are insufficient for tumorigenesis but dual SDHB/NF1 loss yields SDHx-like pheochromocytomas.
Armstrong N et al.
Cell Reports, 2022
SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.
Milionis V et al.
Clinical Case Reports, 2021
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.
Yonamine M et al.
Cancers, 2021
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.
Jochmanova I et al.
Journal of Cancer Research and Clinical Oncology, 2020
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.
Ma X et al.
Frontiers in Endocrinology, 2020
Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.
Snezhkina AV et al.
Frontiers in Genetics, 2020
Epigenetic Deregulation of Protocadherin PCDHGC3 in Pheochromocytomas/Paragangliomas Associated With SDHB Mutations.
Bernardo-Castiñeira C et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.
Albattal S et al.
Oncotarget, 2019
An analysis of surveillance screening for SDHB-related disease in childhood and adolescence.
Tufton N et al.
Endocrine Connections, 2019
The Impact Of Succinate Dehydrogenase Gene (SDH) Mutations In Renal Cell Carcinoma (RCC): A Systematic Review.
Aghamir SMK et al.
Oncotargets and Therapy, 2019
Bayesian approach to determining penetrance of pathogenic SDH variants.
Benn DE et al.
Journal of Medical Genetics, 2018
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA et al.
Journal of Medical Genetics, 2018
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
Casey RT et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.
Jochmanova I et al.
Journal of Cancer Research and Clinical Oncology, 2017
Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis.
Cardaci S et al.
Nature Cell Biology, 2015
Structural and functional consequences of succinate dehydrogenase subunit B mutations.
Kim E et al.
Endocrine-related Cancer, 2015
Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.
Graham D et al.
Case Reports in Genetics, 2014
Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.
Ricketts CJ et al.
The Journal of Urology, 2012
[The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].
Zu TJ et al.
Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2011
L157X nonsense mutation of the succinate dehydrogenase subunit B gene in a Japanese patient with right paraaortic paraganglioma.
Sato H et al.
Endocrine, 2010
R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma.
Naito M et al.
Endocrine, 2009
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.
Pasini B et al.
Journal of Internal Medicine, 2009
SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.
Henderson A et al.
Familial Cancer, 2009
Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.
Klein RD et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2008
Genetic basis of phaeochromocytoma and paraganglioma.
Benn DE et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
The occurrence of SDHB gene mutations in pheochromocytoma.
Van Nederveen FH et al.
Annals of the New York Academy of Sciences, 2006
Mitochondrial tumour suppressors: a genetic and biochemical update.
Gottlieb E et al.
Nature Reviews. Cancer, 2005
A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene.
Zantour B et al.
European Journal of Endocrinology, 2004
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.
Vanharanta S et al.
American Journal of Human Genetics, 2004
A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.
Maier-Woelfle M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.
Benn DE et al.
Oncogene, 2003
The pressure rises: update on the genetics of phaeochromocytoma.
Maher ER et al.
Human Molecular Genetics, 2002
SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation.
Cascón A et al.
Journal of Medical Genetics, 2002
Hereditary paraganglioma targets diverse paraganglia.
Baysal BE
Journal of Medical Genetics, 2002
Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene.
Young AL et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Neuroendocrine tumors and tumor syndromes in childhood.
Gaal J et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0