(Q34413881)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22974104%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors (English)

1 reference

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13 February 2020

4

1 reference

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13 February 2020

5

Ronald P DeMatteo

1 reference

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13 February 2020

author name string

Antoine Italiano

1

1 reference

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13 February 2020

Chun-Liang Chen

2

1 reference

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13 February 2020

Yun-Shao Sung

3

1 reference

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13 February 2020

Michael P LaQuaglia

6

1 reference

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13 February 2020

Peter Besmer

7

1 reference

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13 February 2020

Nicholas Socci

8

1 reference

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13 February 2020

Cristina R Antonescu

9

1 reference

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13 February 2020

language of work or name

English

0 references

publication date

14 September 2012

1 reference

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13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22974104%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

12

1 reference

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13 February 2020

page(s)

408

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22974104%20AND%20SRC:MED&resulttype=core&format=json

Succinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age

13 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

SDHA is a tumor suppressor gene causing paraganglioma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

Molecular characterization of pediatric gastrointestinal stromal tumors.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

Gastrointestinal stromal tumors of the stomach in children and young adults: a clinicopathologic, immunohistochemical, and molecular genetic study of 44 cases with long-term follow-up and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

Clinical and molecular characteristics of pediatric gastrointestinal stromal tumors (GISTs).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

On the Origin of Cancer Cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

A role for mitochondrial enzymes in inherited neoplasia and beyond

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

PDGFRA activating mutations in gastrointestinal stromal tumors.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

Succinate dehydrogenase and human diseases: new insights into a well-known enzyme

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics.

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-408

"Pediatric-type" gastrointestinal stromal tumors in adults: distinctive histology predicts genotype and clinical behavior.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-408

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-408

A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-408

Familial gastrointestinal stromal tumors and germ-line mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-408

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-408

A distinct pediatric-type gastrointestinal stromal tumor in adults: potential role of succinate dehydrogenase subunit A mutations

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3503624

Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases

27 October 2018

1 reference

12 December 2020

W43X SDHD mutation in sporadic head and neck paraganglioma

1 reference

12 December 2020

SDHA Immunohistochemistry Detects GermlineSDHAGene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas

1 reference

12 December 2020

A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney–Stratakis dyad

1 reference

12 December 2020

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

1 reference

12 December 2020

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2407-12-408

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22974104%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22974104%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

PubMed publication ID

22974104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22974104%20AND%20SRC:MED&resulttype=core&format=json