Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations (Q46575022)

23 December 2017

title

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

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21

Tomlinson IP

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author name string

Pollard PJ

1

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Brière JJ

2

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Alam NA

3

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Barwell J

4

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Barclay E

5

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Wortham NC

6

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Hunt T

7

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Mitchell M

8

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Olpin S

9

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Moat SJ

10

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Hargreaves IP

11

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Heales SJ

12

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Chung YL

13

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Griffiths JR

14

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Dalgleish A

15

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McGrath JA

16

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Gleeson MJ

17

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Hodgson SV

18

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Poulsom R

19

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Rustin P

20

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publication date

29 June 2005

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23 December 2017

published in

Human Molecular Genetics

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volume

14

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issue

15

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page(s)

2231-2239

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

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

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Germline SDHD mutation in familial phaeochromocytoma

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

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Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

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The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

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Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis

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

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The 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 pathway

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Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma

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Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome

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

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Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas

21 January 2018

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DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

21 January 2018

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A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts

21 January 2018

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Endogenous 2-oxoacids differentially regulate expression of oxygen sensors

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDI227

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23 December 2017

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23 December 2017