(Q44481223)

3 December 2017

title

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

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3 December 2017

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Kristin Astrom

1

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3 December 2017

Joel E Cohen

2

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3 December 2017

Joan E Willett-Brozick

3

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3 December 2017

Christopher E Aston

4

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3 December 2017

Bora E Baysal

5

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3 December 2017

publication date

17 June 2003

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3 December 2017

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3 December 2017

volume

113

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3 December 2017

issue

3

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3 December 2017

page(s)

228-237

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https://scigraph.springernature.com/pub.10.1007/s00439-003-0969-6

3 December 2017

exact match

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cites work

The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

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12 December 2020

Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.

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12 December 2020

Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands

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12 December 2020

Succinate:quinone oxidoreductases: an overview

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12 December 2020

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 December 2020

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

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12 December 2020

Carotid body chemoreceptors: from natural stimuli to sensory discharges

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12 December 2020

Chief cell hyperplasia in the human carotid body at high altitudes; physiologic and pathologic significance

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12 December 2020

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas

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12 December 2020

Prediction of barometric pressures at high altitude with the use of model atmospheres

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12 December 2020

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

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12 December 2020

A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment

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12 December 2020

Repositioning the hereditary paraganglioma critical region on chromosome band 11q23.

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12 December 2020

Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q

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12 December 2020

Structural biology. Complex II is complex too.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A defect in the cytochrome b large subunit in complex II causes both superoxide anion overproduction and abnormal energy metabolism in Caenorhabditis elegans

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12 December 2020

Germline SDHD mutation in familial phaeochromocytoma

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12 December 2020

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

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12 December 2020

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

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12 December 2020

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

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12 December 2020

Architecture of succinate dehydrogenase and reactive oxygen species generation

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12 December 2020

Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.

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12 December 2020

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene

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12 December 2020

Cellular oxygen sensing by mitochondria: old questions, new insight

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12 December 2020

Clinical report on the L95P mutation in a Dutch family with paraganglioma

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12 December 2020

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

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12 December 2020

Hereditary paraganglioma targets diverse paraganglia

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12 December 2020

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

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12 December 2020

Germ-line mutations in nonsyndromic pheochromocytoma

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12 December 2020

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

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12 December 2020

Hypsographic demography: the distribution of human population by altitude

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12 December 2020

Mechanism of superoxide and hydrogen peroxide formation by fumarate reductase, succinate dehydrogenase, and aspartate oxidase.

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12 December 2020

Genetics of familial paragangliomas: past, present, and future

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12 December 2020

10.1007/S00439-003-0969-6

Identifiers

DOI

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3 December 2017

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