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A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocythemia through a mechanism of more efficient translation of TPO mRNA.

作者信息

Ghilardi N, Skoda R C

出版信息

Blood. 1999 Aug 15;94(4):1480-2.

PMID:10484635
Abstract
摘要

相似文献

1
A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocythemia through a mechanism of more efficient translation of TPO mRNA.血小板生成素（TPO）基因中的单碱基缺失通过更有效地翻译TPO mRNA的机制导致家族性原发性血小板增多症。
Blood. 1999 Aug 15;94(4):1480-2.
2
Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene.一个日本家庭中的遗传性血小板增多症是由血小板生成素基因中的一种新型点突变引起的。
Br J Haematol. 1999 Nov;107(2):310-6. doi: 10.1046/j.1365-2141.1999.01710.x.
3
Thrombopoietin production is inhibited by a translational mechanism.
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4
Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene.
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5
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.遗传性血小板增多症及远端肢体缺陷与血小板生成素基因突变的关联
Blood. 2009 Aug 20;114(8):1655-7. doi: 10.1182/blood-2009-04-217851. Epub 2009 Jun 24.
6
Production of thrombopoietin by human carcinomas and its novel isoforms.人癌组织中血小板生成素的产生及其新型异构体
Blood. 1999 Sep 15;94(6):1952-60.
7
Thrombocytosis in an infant with high thrombopoietin concentrations.血小板生成素浓度高的婴儿出现血小板增多症。
J Pediatr Hematol Oncol. 2004 Feb;26(2):142-5. doi: 10.1097/00043426-200402000-00019.
8
Thrombocytosis in preterm infants: a possible involvement of thrombopoietin receptor gene expression.早产儿血小板增多症：血小板生成素受体基因表达的可能参与
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9
Genes for thrombopoietin and c-mpl are not responsible for familial thrombocythaemia: a case study.
Br J Haematol. 1998 Feb;100(2):383-6. doi: 10.1046/j.1365-2141.1998.00571.x.
10
Refined chromosomal localization of the human thrombopoietin gene to 3q27-q28 and exclusion as the responsible gene for thrombocytosis in patients with rearrangements of 3q21 and 3q26.人类血小板生成素基因在染色体上的精确定位至3q27 - q28，并排除其为3q21和3q26重排患者血小板增多症的致病基因。
Leukemia. 1996 Dec;10(12):1891-6.

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LMAN1 serves as a cargo receptor for thrombopoietin.LMAN1作为血小板生成素的货物受体。
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Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.一个日本家族中由于 THPO 剪接受体位点突变导致的遗传性血小板增多症。
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Translation of TNFAIP2 is tightly controlled by upstream open reading frames.TNFAIP2 的翻译受到上游开放阅读框的严格控制。
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Translation from the 5' untranslated region shapes the integrated stress response.来自5'非翻译区的翻译塑造了整合应激反应。
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7
Intron V, not intron I of human thrombopoietin, improves expression in the milk of transgenic mice regulated by goat beta-casein promoter.人血小板生成素的内含子V而非内含子I，可提高由山羊β-酪蛋白启动子调控的转基因小鼠乳汁中的表达。
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