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Literature summary for 1.3.5.1 extracted from

  • Richalet, J.P.; Gimenez-Roqueplo, A.P.; Peyrard, S.; Venisse, A.; Marelle, L.; Burnichon, N.; Bouzamondo, A.; Jeunemaitre, X.; Azizi, M.; Elghozi, J.L.
    A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia? (2009), Clin. Auton. Res., 19, 335-342.
    View publication on PubMed
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
-

Synonyms

Synonyms Comment Organism
SDH
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 Homo sapiens
succinate dehydrogenase
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 Homo sapiens

General Information

General Information Comment Organism
malfunction the frequency of polymorphisms of SDHs, hypoxia-inducible factor type 1 and angiotensin converting enzyme genes is compared between 40 subjects with intolerance to high altitude and a low hypoxic ventilatory response at exercise and 41 subjects without intolerance to high altitude and a high hypoxic ventilatory. No significant association between low or high hypoxic ventilatory response and the allele frequencies for nine single nucleotide polymorphisms in the SDHD and SDHB genes, the ACE insertion/deletion polymorphism and four single nucleotide polymorphisms in the hypoxia-inducible factor type 1 a gene is found. No clear association is found between gene variants involved in oxygen sensing and chemoresponsiveness, although some mutations in the SDHB and SDHD genes deserve further investigations in a larger population Homo sapiens