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Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism.

Journal of molecular medicine (Berlin, Germany) - 1 Jan 2013

McClain Donald A, Abuelgasim Khadega A, Nouraie Mehdi, Salomon-Andonie Juan, Niu Xiaomei, Miasnikova Galina, Polyakova Lydia A, Sergueeva Adelina, Okhotin Daniel J, Cherqaoui Rabia, Okhotin David, Cox James E, Swierczek Sabina, Song Jihyun, Simon M Celeste, Huang Jingyu, Simcox Judith A, Yoon Donghoon, Prchal Josef T, Gordeuk Victor R

Abstract excerpt

In Chuvash polycythemia, a homozygous 598C>T mutation in the von Hippel-Lindau gene (VHL) leads to an R200W substitution in VHL protein, impaired degradation of α-subunits of hypoxia-inducible factor (HIF)-1 and HIF-2, and augmented hypoxic responses during normoxia. Chronic hypoxia of high altitude is associated with decreased serum glucose and insulin concentrations. Other investigators reported that HIF-1...

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Glucose-6-Phosphatase
Glucose Transport Proteins, Facilitative
Glycated Hemoglobin
Hypoxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hypoxia-Inducible Factor 1, alpha Subunit

Pyruvate Dehydrogenase Complex

Von Hippel-Lindau Tumor Suppressor Protein

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Identifiers

PMID: 23015148
DOI: 10.1007/s00109-012-0961-5
PMCID: PMC3537876

Genes

VHL

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism.PMID 23015148Read ↗

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.Semantic proximity Read ↗

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.Semantic proximity Read ↗

Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.Semantic proximity Read ↗

Pseudohypoxia caused by germline genetic alterations in the VHL gene is associated with increased diabetes and cardiovascular risk: a UK biobank study.Semantic proximity Read ↗

The von Hippel-Lindau Chuvash mutation in mice alters cardiac substrate and high-energy phosphate metabolism.Semantic proximity Read ↗

von Hippel Lindau tumor suppressor regulates hepatic glucose metabolism by controlling expression of glucose transporter 2 and glucose 6-phosphatase.Semantic proximity Read ↗

The Hypoxia-inducible Factor Renders Cancer Cells More Sensitive to Vitamin C-induced ToxicitySemantic proximity Read ↗

[Expression of Key Enzymes in Glucose Metabolism in Chronic Mountain Sickness and Its Correlation with Phenotype].Semantic proximity Read ↗

The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.Semantic proximity Read ↗

Altered cytokine profiles in patients with Chuvash polycythemia.Semantic proximity Read ↗

Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1.Semantic proximity Read ↗

The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).Semantic proximity Read ↗

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