Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity (Q38179962)

30 August 2017

Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity (English)

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30 August 2017

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Patricia L M Dahia

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PubMed ID

24442145

30 August 2017

language of work or name

English

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publication date

20 January 2014

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30 August 2017

Nature Reviews Cancer

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30 August 2017

14

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30 August 2017

108-119

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30 August 2017

2

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https://scigraph.springernature.com/pub.10.1038/nrc3648

30 August 2017

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An overview of pheochromocytoma: history, current concepts, vagaries, and diagnostic challenges

31 March 2020

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Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

31 March 2020

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Current and future treatments for malignant pheochromocytoma and sympathetic paraganglioma

31 March 2020

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An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.

31 March 2020

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Germ-line mutations in nonsyndromic pheochromocytoma

31 March 2020

1 reference

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

31 March 2020

1 reference

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

31 March 2020

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Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas

31 March 2020

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In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.

31 March 2020

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A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

31 March 2020

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Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma

31 March 2020

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Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

31 March 2020

1 reference

Cancer phenomics: RET and PTEN as illustrative models

31 March 2020

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RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors

31 March 2020

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Medullary thyroid cancer: management guidelines of the American Thyroid Association

31 March 2020

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Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis

31 March 2020

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HIF2AMutations in Paraganglioma with Polycythemia

31 March 2020

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HIF2 and endocrine neoplasia: an evolving story.

31 March 2020

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Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

31 March 2020

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Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing

31 March 2020

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The genetics of phaeochromocytoma: using clinical features to guide genetic testing.

31 March 2020

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A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma

31 March 2020

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Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome

31 March 2020

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Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas

31 March 2020

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HIF-1, O(2), and the 3 PHDs: how animal cells signal hypoxia to the nucleus

31 March 2020

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Hypoxia-inducible factors, hypoxia, and tumor angiogenesis

31 March 2020

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HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing

31 March 2020

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Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation

31 March 2020

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The von Hippel-Lindau tumour suppressor protein: O2 sensing and cancer

31 March 2020

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Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function

31 March 2020

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Role of VHL gene mutation in human cancer

31 March 2020

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The VHL/HIF axis in clear cell renal carcinoma

31 March 2020

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Contrasting properties of hypoxia-inducible factor 1 (HIF-1) and HIF-2 in von Hippel-Lindau-associated renal cell carcinoma.

31 March 2020

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HIF1α and HIF2α: sibling rivalry in hypoxic tumour growth and progression

31 March 2020

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HIF-2alpha promotes hypoxic cell proliferation by enhancing c-myc transcriptional activity

31 March 2020

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The interplay between MYC and HIF in cancer.

31 March 2020

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Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein

31 March 2020

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Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth

31 March 2020

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VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations

31 March 2020

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Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations.

31 March 2020

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The Warburg effect is genetically determined in inherited pheochromocytomas

31 March 2020

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Genetic and functional studies implicate HIF1α as a 14q kidney cancer suppressor gene

31 March 2020

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Histone demethylase JMJD2C is a coactivator for hypoxia-inducible factor 1 that is required for breast cancer progression

31 March 2020

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Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

31 March 2020

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von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

31 March 2020

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31 March 2020

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Treatment of kidney cancer: insights provided by the VHL tumor-suppressor protein

31 March 2020

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Two sides to every story: the HIF-dependent and HIF-independent functions of pVHL.

31 March 2020

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Respiratory complex II: role in cellular physiology and disease

31 March 2020

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Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

31 March 2020

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SDHA is a tumor suppressor gene causing paraganglioma

31 March 2020

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Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

31 March 2020

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SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

31 March 2020

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Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma

31 March 2020

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Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

31 March 2020

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Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.

31 March 2020

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Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase

31 March 2020

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Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors

31 March 2020

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SDH mutations establish a hypermethylator phenotype in paraganglioma.

31 March 2020

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Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor

31 March 2020

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Reductive glutamine metabolism is a function of the α-ketoglutarate to citrate ratio in cells.

31 March 2020

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Citric acid cycle intermediates as ligands for orphan G-protein-coupled receptors

31 March 2020

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The role of the GPR91 ligand succinate in hematopoiesis

31 March 2020

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The succinate receptor GPR91 in neurons has a major role in retinal angiogenesis

31 March 2020

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Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

31 March 2020

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HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability

31 March 2020

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The proto-oncometabolite fumarate binds glutathione to amplify ROS-dependent signaling.

31 March 2020

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Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.

31 March 2020

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Succinate inhibition of alpha-ketoglutarate-dependent enzymes in a yeast model of paraganglioma

31 March 2020

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Redox stress is not essential for the pseudo-hypoxic phenotype of succinate dehydrogenase deficient cells.

31 March 2020

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Loss of the SdhB, but Not the SdhA, subunit of complex II triggers reactive oxygen species-dependent hypoxia-inducible factor activation and tumorigenesis.

31 March 2020

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Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations

31 March 2020

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First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.

31 March 2020

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A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma

31 March 2020

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Cellular oxygen sensing: Crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2)

31 March 2020

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Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling

31 March 2020

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The genetic landscape of pheochromocytomas and paragangliomas: somatic mutations take center stage

31 March 2020

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New syndrome of paraganglioma and somatostatinoma associated with polycythemia

31 March 2020

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A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

31 March 2020

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The hypoxia-responsive transcription factor EPAS1 is essential for catecholamine homeostasis and protection against heart failure during embryonic development

31 March 2020

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HIF-2alpha expression in human fetal paraganglia and neuroblastoma: relation to sympathetic differentiation, glucose deficiency, and hypoxia.

31 March 2020

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PHD2 mutation and congenital erythrocytosis with paraganglioma.

31 March 2020

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Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility

31 March 2020

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Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.

31 March 2020

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Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas

31 March 2020

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Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

31 March 2020

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Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

31 March 2020

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GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF

31 March 2020

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31 March 2020

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Management of medullary thyroid carcinoma and MEN2 syndromes in childhood.

31 March 2020

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Vandetanib in patients with locally advanced or metastatic medullary thyroid cancer: a randomized, double-blind phase III trial

31 March 2020

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Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations

31 March 2020

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Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B

31 March 2020

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C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B

31 March 2020

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RET ligand-induced internalization and its consequences for downstream signaling.

31 March 2020

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SorLA controls neurotrophic activity by sorting of GDNF and its receptors GFRα1 and RET.

31 March 2020

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Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.

31 March 2020

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The characterization of pheochromocytoma and its impact on overall survival in multiple endocrine neoplasia type 2

31 March 2020

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31 March 2020

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31 March 2020

Neurofibromatosis type 1

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Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

31 March 2020

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The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

31 March 2020

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Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients

31 March 2020

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Dynamic regulation of the Ras pathway via proteolysis of the NF1 tumor suppressor

31 March 2020

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Pheochromocytomas in Nf1 knockout mice express a neural progenitor gene expression profile

31 March 2020

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TORC1 is essential for NF1-associated malignancies

31 March 2020

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Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

31 March 2020

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Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

31 March 2020

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Myc and Max associate in vivo

31 March 2020

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MAX and MYC: a heritable breakup

31 March 2020

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c-Myc Does Not Require Max for Transcriptional Activity in PC-12 Cells

31 March 2020

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Association of multiple copies of the N-myc oncogene with rapid progression of neuroblastomas

31 March 2020

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Myc and mTOR converge on a common node in protein synthesis control that confers synthetic lethality in Myc-driven cancers

31 March 2020

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An integrated encyclopedia of DNA elements in the human genome

31 March 2020

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A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.

31 March 2020

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Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma

31 March 2020

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Novel mutation in the TMEM127 gene associated with phaeochromocytoma.

31 March 2020

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TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma

31 March 2020

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Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites

31 March 2020

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Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

31 March 2020

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The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function

31 March 2020

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Dynamics of receptor trafficking in tumorigenicity

31 March 2020

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Regulation of endocytosis via the oxygen-sensing pathway

31 March 2020

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Hypoxia promotes ligand-independent EGF receptor signaling via hypoxia-inducible factor-mediated upregulation of caveolin-1

31 March 2020

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Dysregulation of HIF and VEGF is a unifying feature of the familial hamartoma syndromes

31 March 2020

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HIF-alpha effects on c-Myc distinguish two subtypes of sporadic VHL-deficient clear cell renal carcinoma

31 March 2020

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Activation of a metabolic gene regulatory network downstream of mTOR complex 1

31 March 2020

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HIF-1: mediator of physiological and pathophysiological responses to hypoxia

31 March 2020

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A Central role for mTOR in lipid homeostasis

31 March 2020

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Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer

31 March 2020

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Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing.

31 March 2020

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Novel pheochromocytoma susceptibility loci identified by integrative genomics

31 March 2020

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Highly recurrent TERT promoter mutations in human melanoma

31 March 2020

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Combined blockade of signalling pathways shows marked anti-tumour potential in phaeochromocytoma cell lines

31 March 2020

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Treatment with sunitinib for patients with progressive metastatic pheochromocytomas and sympathetic paragangliomas.

31 March 2020

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Phase 2 study of everolimus monotherapy in patients with nonfunctioning neuroendocrine tumors or pheochromocytomas/paragangliomas

31 March 2020

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One-Year Progression-Free Survival of Therapy-Naive Patients With Malignant Pheochromocytoma and Paraganglioma

31 March 2020

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Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations.

31 March 2020

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Signatures of mutational processes in human cancer

31 March 2020

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Understanding the Warburg effect: the metabolic requirements of cell proliferation

31 March 2020

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HIF-1 mediates adaptation to hypoxia by actively downregulating mitochondrial oxygen consumption

31 March 2020

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HIF-1-mediated expression of pyruvate dehydrogenase kinase: a metabolic switch required for cellular adaptation to hypoxia

31 March 2020

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The biology of cancer: metabolic reprogramming fuels cell growth and proliferation

31 March 2020

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The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor

31 March 2020

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A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors

31 March 2020

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ras mutations in endocrine tumors: mutation detection by polymerase chain reaction-single strand conformation polymorphism

31 March 2020

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COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

31 March 2020

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A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

31 March 2020

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Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

31 March 2020

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Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors

31 March 2020

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A genomic view of mosaicism and human disease

31 March 2020

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Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.

31 March 2020

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Neurofibromatosis, phaeochromocytoma, and somatostatinoma

31 March 2020

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12 December 2020

Acute stimulation of chromaffin cell proliferation in the adult rat adrenal medulla

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12 December 2020

The Catalogue of Somatic Mutations in Cancer (COSMIC)

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12 December 2020

Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II

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12 December 2020

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

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12 December 2020

Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2.

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12 December 2020

A mutation in the SDHC gene of complex II increases oxidative stress, resulting in apoptosis and tumorigenesis.

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12 December 2020

Identifiers

DOI

10.1038/NRC3648

1 reference

PubMed ID

24442145

Dimensions Publication ID

30 August 2017

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1 reference

PubMed ID

24442145