New advances in the genetics of pheochromocytoma and paraganglioma syndromes. (Q40270423)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17102078%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

New advances in the genetics of pheochromocytoma and paraganglioma syndromes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17102078%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference

1 reference

Anne-Paule Gimenez-Roqueplo

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17102078%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

Anne-Paule Gimenez-Roqueplo

series ordinal

1

1 reference

19 September 2017

language of work or name

English

0 references

publication date

1 August 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17102078%20AND%20SRC:MED&resulttype=core&format=json

Annals of the New York Academy of Sciences

21 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17102078%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

volume

1073

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17102078%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

page(s)

112-121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17102078%20AND%20SRC:MED&resulttype=core&format=json

Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency

21 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

Direct evidence for two distinct forms of the flavoprotein subunit of human mitochondrial complex II (succinate-ubiquinone reductase).

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

Hereditary paraganglioma targets diverse paraganglia

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

New insights in the genetics of adrenocortical tumors, pheochromocytomas and paragangliomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

Clinical characteristics of pheochromocytoma patients with germline mutations in SDHD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

The pressure rises: update on the genetics of phaeochromocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

Germ-line mutations in nonsyndromic pheochromocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

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/10.1196%2FANNALS.1353.012

Regulation of angiogenesis by hypoxia: role of the HIF system

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

The von Hippel-Lindau protein, HIF hydroxylation, and oxygen sensing

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.012

21 January 2018

Identifiers

DOI

10.1196/ANNALS.1353.012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17102078%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference