Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
about
The 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.Components of cancer metabolism and therapeutic interventionsPrimary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and TreatmentSimilar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis.Current views on cell metabolism in SDHx-related pheochromocytoma and paragangliomaFamilial paragangliomas.SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromesGenetic-clinical profile of subjects with apparently sporadic extra-adrenal paragangliomasSuccinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.Penetrance and clinical consequences of a gross SDHB deletion in a large family.The occurrence of SDHB gene mutations in pheochromocytoma.Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1Hypoxia-inducible factor signaling in pheochromocytoma: turning the rudder in the right direction.Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC).Signaling pathways in pheochromocytomas and paragangliomas: prospects for future therapies.Nervous system involvement in von Hippel-Lindau disease: pathology and mechanisms.Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma.Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers.Comparative analysis of some aspects of mitochondrial metabolism in differentiated and undifferentiated neuroblastoma cells.Combined blockade of signalling pathways shows marked anti-tumour potential in phaeochromocytoma cell lines.Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas.Loss of heterozygosity of succinate dehydrogenase B mutation by direct sequencing in synchronous paragangliomas.Ischemic stroke and rhabdomyolysis in a 15-year-old girl with paraganglioma due to an SDHB exon 6 (Q214X) mutation.A novel SDHD mutation associated with neck paraganglioma.Sporadic phaeochromocytoma in childhood: clinical and molecular variability.Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.Familial nonsyndromic pheochromocytoma.Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.SDH Mutations in Patients Affected by Paraganglioma Syndromes: A Personal Experience
P2860
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P2860
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Genetic analysis of mitochondr ...... eochromocytoma susceptibility.
@en
Genetic analysis of mitochondr ...... eochromocytoma susceptibility.
@nl
type
label
Genetic analysis of mitochondr ...... eochromocytoma susceptibility.
@en
Genetic analysis of mitochondr ...... eochromocytoma susceptibility.
@nl
prefLabel
Genetic analysis of mitochondr ...... eochromocytoma susceptibility.
@en
Genetic analysis of mitochondr ...... eochromocytoma susceptibility.
@nl
P2093
P2860
P50
P1476
Genetic analysis of mitochondr ...... eochromocytoma susceptibility.
@en
P2093
Anthony Moran
Ashley B Grossman
Dewi Astuti
Eamonn R Maher
Farida Latif
Fiona Lalloo
Niki Hart-Holden
Richard Ramsden
Shirley V Hodgson
P2860
P304
P356
10.1046/J.1365-2265.2003.01914.X
P577
2003-12-01T00:00:00Z