Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
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Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHAThe FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiencySIRT5-mediated lysine desuccinylation impacts diverse metabolic pathwaysSDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyThe Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational familyThe SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.Mitochondrial metabolic remodeling in response to genetic and environmental perturbationsSuccinate Dehydrogenase Loss in Familial Paraganglioma: Biochemistry, Genetics, and Epigenetics15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5Physiological consequences of complex II inhibition for aging, disease, and the mKATP channelGenetically-defined metabolic reprogramming in cancerCancer cell metabolism: implications for therapeutic targetsHead and neck paragangliomas: clinical and molecular genetic classificationThe metabolic basis of kidney cancerPheochromocytoma: implications in tumorigenesis and the actual managementOncometabolites: Unconventional triggers of oncogenic signalling cascadesOncometabolites: tailoring our genesThe genetics of paragangliomas: a reviewThe R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathwayGene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paragangliomaReduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2α accumulation and promotes migration and invasionSuccinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancerRole of mitochondrial dysfunction in cancer progressionA mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicineMitochondria and cancerHigh-throughput screening for growth inhibitors using a yeast model of familial paraganglioma.National Cancer Data Base report on malignant paragangliomas of the head and neck.Realizing the promise of cancer predisposition genes.Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytomaThe tumor suppressor cybL, a component of the respiratory chain, mediates apoptosis inductionWarburg effect's manifestation in aggressive pheochromocytomas and paragangliomas: insights from a mouse cell model applied to human tumor tissue.The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patientsSimilar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis.No evidence for promoter region methylation of the succinate dehydrogenase and fumarate hydratase tumour suppressor genes in breast cancer.Succinate-to-fumarate ratio as a new metabolic marker to detect the presence of SDHB/D-related paraganglioma: initial experimental and ex vivo findings.Current views on cell metabolism in SDHx-related pheochromocytoma and paragangliomaParagangliomas/Pheochromocytomas: clinically oriented genetic testingGenomic susceptibility Loci for brain atrophy, ventricular volume, and leukoaraiosis in hypertensive sibshipsSDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
P2860
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P2860
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
description
2000 nî lūn-bûn
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2000年の論文
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
@zh-my
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2000年學術文章
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name
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
@en
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
@nl
type
label
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
@en
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
@nl
prefLabel
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
@en
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
@nl
P356
P1433
P1476
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
@en
P2093
P2888
P304
P356
10.1038/81551
P407
P577
2000-11-01T00:00:00Z