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Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis.

作者信息

Badri Kameswara Rao, Gao Ling, Hyjek Elizabeth, Schuger Noa, Schuger Lucia, Qin Wei, Chekaluk Yvonne, Kwiatkowski David J, Zhe Xiaoning

出版信息

Am J Respir Crit Care Med. 2013 Mar 15;187(6):663-5. doi: 10.1164/ajrccm.187.6.663.

DOI:10.1164/ajrccm.187.6.663
PMID:23504366
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3733437/
Abstract
摘要

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Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis.TSC2/TSC1的外显子突变很常见，但并非在所有散发性肺淋巴管平滑肌瘤病中都能见到。
Am J Respir Crit Care Med. 2013 Mar 15;187(6):663-5. doi: 10.1164/ajrccm.187.6.663.
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Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis.淋巴管平滑肌瘤病患者中 TSC2 杂合性缺失的播散细胞的表型特征。
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Genomic rearrangements in sporadic lymphangioleiomyomatosis: an evolving genetic story.散发性淋巴管平滑肌瘤病中的基因组重排：一个不断发展的遗传故事。
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Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis.肺淋巴管平滑肌瘤病患者结节性硬化症基因TSC2的突变分析。
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Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.日本肺淋巴管平滑肌瘤病患者TSC1和TSC2基因的突变分析
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Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.全外显子组测序确定TSC1/TSC2双等位基因缺失是肾血管平滑肌脂肪瘤发生的主要且充分的驱动事件。
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本文引用的文献

1
Efficacy and safety of sirolimus in lymphangioleiomyomatosis.西罗莫司治疗淋巴管平滑肌瘤病的疗效和安全性。
N Engl J Med. 2011 Apr 28;364(17):1595-606. doi: 10.1056/NEJMoa1100391. Epub 2011 Mar 16.
2
Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis.淋巴管平滑肌瘤病患者中 TSC2 杂合性缺失的播散细胞的表型特征。
Am J Respir Crit Care Med. 2010 Dec 1;182(11):1410-8. doi: 10.1164/rccm.201003-0489OC. Epub 2010 Jul 16.
3
Lymphangioleiomyomatosis: a disease involving the lymphatic system.淋巴管平滑肌瘤病：一种累及淋巴系统的疾病。
Lymphat Res Biol. 2010 Mar;8(1):21-31. doi: 10.1089/lrb.2009.0018.
4
The natural history of lymphangioleiomyomatosis: markers of severity, rate of progression and prognosis.淋巴管平滑肌瘤病的自然病史：严重程度标志物、进展速率及预后
Lymphat Res Biol. 2010 Mar;8(1):9-19. doi: 10.1089/lrb.2009.0024.
5
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.超高深度测序检测出结节性硬化症中的镶嵌突变率较低。
Hum Genet. 2010 Mar;127(5):573-82. doi: 10.1007/s00439-010-0801-z. Epub 2010 Feb 18.
6
Lymphangioleiomyomatosis: A review.淋巴管平滑肌瘤病：综述
Eur J Intern Med. 2008 Jul;19(5):319-24. doi: 10.1016/j.ejim.2007.10.015. Epub 2007 Dec 26.
7
Lymphangioleiomyomatosis: a clinical update.淋巴管平滑肌瘤病：临床最新进展
Chest. 2008 Feb;133(2):507-16. doi: 10.1378/chest.07-0898.
8
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.结节性硬化症：多条信号通路交叉点上的一个“缺口”
Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R251-8. doi: 10.1093/hmg/ddi260.
9
Emerging clinical picture of lymphangioleiomyomatosis.淋巴管平滑肌瘤病的新出现的临床症状
Thorax. 2005 Oct;60(10):875-9. doi: 10.1136/thx.2004.035154. Epub 2005 Jul 29.
10
Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosis.淋巴管平滑肌瘤病中播散性肿瘤细胞的分子与遗传学分析
Proc Natl Acad Sci U S A. 2004 Dec 14;101(50):17462-7. doi: 10.1073/pnas.0407971101. Epub 2004 Dec 6.