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[A case of familial erythrocytosis type 2 caused by VHL gene mutation].

作者信息

Zhang W, Bao S, Jiang L J, Ma Y P

机构信息

Department of Hematology, People's Hospital of Ningxia Hui Autonomous Region, Yinchuan 750021, China.

Ningxia Geriatric Center, People's Hospital of Ningxia Hui Autonomous Region, Yinchuan 750021, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2020 Dec 14;41(12):1047-1049. doi: 10.3760/cma.j.issn.0253-2727.2020.12.015.

DOI:10.3760/cma.j.issn.0253-2727.2020.12.015
PMID:33445856
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7840559/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73ab/7840559/9caef30d187a/cjh-41-12-1047-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73ab/7840559/9caef30d187a/cjh-41-12-1047-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73ab/7840559/9caef30d187a/cjh-41-12-1047-g001.jpg

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Front Neurol. 2022 Oct 17;13:951054. doi: 10.3389/fneur.2022.951054. eCollection 2022.

本文引用的文献

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Genetic basis of unexplained erythrocytosis in Indian patients.印度患者不明原因红细胞增多症的遗传学基础。
Eur J Haematol. 2019 Aug;103(2):124-130. doi: 10.1111/ejh.13267. Epub 2019 Jun 13.
2
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.家族性红细胞增多症中促红细胞生成素（EPO）和 EPO 受体基因的遗传变异。
Int J Lab Hematol. 2019 Apr;41(2):162-167. doi: 10.1111/ijlh.12949. Epub 2018 Dec 3.
3
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
遗传性红细胞增多症突变的基因型-表型相关性：单中心经验
Am J Hematol. 2018 May 23. doi: 10.1002/ajh.25150.
4
Recent advances in CKD and ESRD: A literature update.慢性肾脏病和终末期肾病的最新进展：文献综述
Hemodial Int. 2017 Jan;21(1):11-18. doi: 10.1111/hdi.12518. Epub 2016 Nov 28.
5
[Influence of HIF- 2α on the expression of GATA- 1 in bone marrow CD71(+) cell of high altitude polycythemia rat model].[低氧诱导因子-2α对高原红细胞增多症大鼠模型骨髓CD71(+)细胞中GATA-1表达的影响]
Zhonghua Xue Ye Xue Za Zhi. 2016 Aug 14;37(8):696-701. doi: 10.3760/cma.j.issn.0253-2727.2016.08.013.
6
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.肿瘤发生过程中缺氧信号通路精确调节异常的遗传学证据。
Cancer Res. 2014 Nov 15;74(22):6554-64. doi: 10.1158/0008-5472.CAN-14-1161. Epub 2014 Nov 4.
7
Genetic basis of congenital erythrocytosis: mutation update and online databases.先天性红细胞增多症的遗传学基础：突变更新和在线数据库。
Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22.
8
Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism.楚瓦什红细胞增多症患者血清葡萄糖和糖化血红蛋白水平降低：HIF 在葡萄糖代谢中的作用。
J Mol Med (Berl). 2013 Jan;91(1):59-67. doi: 10.1007/s00109-012-0961-5. Epub 2012 Sep 27.
9
The classification and diagnosis of erythrocytosis.红细胞增多症的分类与诊断
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N Engl J Med. 2008 Jan 10;358(2):162-8. doi: 10.1056/NEJMoa073123.