Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas (Q46885160)

26 December 2017

http://europepmc.org/abstract/MED/24334767

title

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas (English)

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26 December 2017

http://europepmc.org/abstract/MED/24334767

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7

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11 June 2020

Mercedes Robledo

20

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11 June 2020

Judith Favier

21

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11 June 2020

Alberto Cascón

4

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11 June 2020

Olivier Chabre

10

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11 June 2020

Valérie Franco-Vidal

12

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11 June 2020

Patrick J Pollard

18

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Anne-Paule Gimenez-Roqueplo

11 June 2020

22

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11 June 2020

2

Alexandre Buffet

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11 June 2020

5

Mélanie Menara

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11 June 2020

Luis Jaime Castro-Vega

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Luis Jaime Castro-Vega

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11 June 2020

6

Emmanuel Khalifa

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11 June 2020

15

Aurélie Morin

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11 June 2020

16

Rocío Letón

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11 June 2020

17

Alvaro Gómez-Graña

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11 June 2020

19

Pierre Rustin

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11 June 2020

author name string

Aguirre A De Cubas

3

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11 June 2020

Sharona Azriel

8

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11 June 2020

Isabelle Bourdeau

9

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11 June 2020

Maria Currás-Freixes

11

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11 June 2020

Marine Guillaud-Bataille

13

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11 June 2020

Christophe Simian

14

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11 June 2020

publication date

13 December 2013

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26 December 2017

http://europepmc.org/abstract/MED/24334767

published in

Human Molecular Genetics

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11 June 2020

volume

23

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11 June 2020

issue

9

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11 June 2020

page(s)

2440-2446

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

11 June 2020

cites work

1 reference

Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma

21 January 2018

1 reference

Oncometabolites: linking altered metabolism with cancer

21 January 2018

1 reference

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

21 January 2018

1 reference

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

21 January 2018

1 reference

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

21 January 2018

1 reference

Pheochromocytomas: the (pseudo)-hypoxia hypothesis.

21 January 2018

1 reference

SDH mutations establish a hypermethylator phenotype in paraganglioma.

21 January 2018

1 reference

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

21 January 2018

1 reference

A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency

21 January 2018

1 reference

Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status

21 January 2018

1 reference

Revisiting the TCA cycle: signaling to tumor formation

21 January 2018

1 reference

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

21 January 2018

1 reference

Germline SDHB mutations and familial renal cell carcinoma.

21 January 2018

1 reference

An integrated genomic analysis of human glioblastoma multiforme

21 January 2018

1 reference

Recurring mutations found by sequencing an acute myeloid leukemia genome

21 January 2018

1 reference

IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

21 January 2018

1 reference

Frequent mutation of isocitrate dehydrogenase (IDH)1 and IDH2 in cholangiocarcinoma identified through broad-based tumor genotyping

21 January 2018

1 reference

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

21 January 2018

1 reference

Succination of protein thiols during adipocyte maturation: a biomarker of mitochondrial stress

21 January 2018

1 reference

Succinate Dehydrogenase B Gene Mutations Predict Survival in Patients with Malignant Pheochromocytomas or Paragangliomas

21 January 2018

1 reference