(Q46885160)

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

26 December 2017

title

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

1 reference

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

26 December 2017

1 reference

7

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11 June 2020

Mercedes Robledo

20

1 reference

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11 June 2020

Judith Favier

21

1 reference

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11 June 2020

Alberto Cascón

4

1 reference

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11 June 2020

Olivier Chabre

10

1 reference

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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

1 reference

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11 June 2020

5

Mélanie Menara

1 reference

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11 June 2020

Luis Jaime Castro-Vega

1

object named as

Luis Jaime Castro-Vega

1 reference

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11 June 2020

6

Emmanuel Khalifa

1 reference

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11 June 2020

15

Aurélie Morin

1 reference

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11 June 2020

16

Rocío Letón

1 reference

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11 June 2020

17

Alvaro Gómez-Graña

1 reference

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11 June 2020

19

Pierre Rustin

1 reference

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11 June 2020

author name string

Aguirre A De Cubas

3

1 reference

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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

1 reference

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

26 December 2017

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24334767%20AND%20SRC:MED&resulttype=core&format=json

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

11 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

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

21 January 2018

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Oncometabolites: linking altered metabolism with cancer

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

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

https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

Pheochromocytomas: the (pseudo)-hypoxia hypothesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

SDH mutations establish a hypermethylator phenotype in paraganglioma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

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

https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

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

21 January 2018

1 reference

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Revisiting the TCA cycle: signaling to tumor formation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT639

Germline SDHB mutations and familial renal cell carcinoma.

21 January 2018

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An integrated genomic analysis of human glioblastoma multiforme

21 January 2018

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Recurring mutations found by sequencing an acute myeloid leukemia genome

21 January 2018

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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

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

21 January 2018

1 reference

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MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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