(Q28361936)

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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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12 November 2019

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 (English)

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12 November 2019

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Anne-Paule Gimenez-Roqueplo

1

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12 November 2019

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12 November 2019

7

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12 November 2019

Jean-Jacques Mourad

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ORCID Public Data File 2021

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Rustin P

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12 November 2019

Mourad JJ

4

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12 November 2019

Plouin PF

5

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12 November 2019

Corvol P

6

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12 November 2019

Jeunemaitre X

8

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12 November 2019

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16 October 2001

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12 November 2019

American Journal of Human Genetics

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12 November 2019

69

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12 November 2019

6

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12 November 2019

1186-1197

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12 November 2019

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

1 reference

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20 March 2017

A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

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Alterations of the PPP2R1B gene in human lung and colon cancer

1 reference

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20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

7 April 2017

Mitochondrial reactive oxygen species trigger hypoxia-induced transcription

1 reference

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7 April 2017

Differential loss of chromosome 11q in familial and sporadic parasympathetic paragangliomas detected by comparative genomic hybridization

1 reference

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29 September 2017

Genetic analysis in the diagnosis of familial paragangliomas

1 reference

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29 September 2017

Oxygen sensing by the carotid body chemoreceptors

1 reference

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29 September 2017

Nonhypoxic pathway mediates the induction of hypoxia-inducible factor 1alpha in vascular smooth muscle cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

29 September 2017

Expression of angiogenic growth factors in paragangliomas

1 reference

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29 September 2017

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

1 reference

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29 September 2017

Chromosomes, 11Q and cancer: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

29 September 2017

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

29 September 2017

Oxidative phosphorylation at the fin de siècle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

29 September 2017

Differential transcriptional regulation of the two vascular endothelial growth factor receptor genes. Flt-1, but not Flk-1/KDR, is up-regulated by hypoxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

29 September 2017

First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

29 September 2017

Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

29 September 2017

Kinetic PCR Analysis: Real-time Monitoring of DNA Amplification Reactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

29 September 2017

Genetics of human cancer

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29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

29 September 2017

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

29 September 2017

Neurone-specific enolase is a molecular marker for peripheral and central neuroendocrine cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

29 September 2017

Familial paragangliomas: the emerging impact of molecular genetics on evaluation and management.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

2 June 2018

Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

27 November 2018

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

27 November 2018

Germline SDHD mutation in familial phaeochromocytoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

27 November 2018

Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

27 November 2018

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

27 November 2018

Cloning and expression pattern of EPAS1 in the chicken embryo. Colocalization with tyrosine hydroxylase.

1 reference

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27 November 2018

A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

27 November 2018

Enhancement of mRNA in situ hybridization signal by microwave heating.

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27 November 2018

PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235531

27 November 2018

Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma

1 reference

https://pubmed.ncbi.nlm.nih.gov/11605159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial paragangliomas: linkage to chromosome 11q23 and clinical implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/11605159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transition between isozymic forms of enolase during in vitro differentiation of neuroblastoma cells-II

1 reference

https://pubmed.ncbi.nlm.nih.gov/11605159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carotid body tumors at high altitudes: Quito, Ecuador, 1987

1 reference

https://pubmed.ncbi.nlm.nih.gov/11605159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/11605159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/11605159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms of genomic imprinting

1 reference

https://pubmed.ncbi.nlm.nih.gov/11605159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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12 November 2019

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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12 November 2019

1 reference

Europe PubMed Central

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12 November 2019

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