Exonic Mutations of TSC2/TSC1 Are Common but Not Seen in All Sporadic Pulmonary Lymphangioleiomyomatosis

被引：54

作者：

Badri, Kameswara Rao ^{[1
]}

Gao, Ling ^{[1
]}

Hyjek, Elizabeth ^{[1
]}

Schuger, Noa ^{[1
]}

Schuger, Lucia ^{[1
]}

Qin, Wei ^{[2
,3
]}

Chekaluk, Yvonne ^{[2
,3
]}

Kwiatkowski, David J. ^{[2
,3
]}

Zhe, Xiaoning ^{[4
]}

机构：

[1] Univ Chicago, Chicago, IL 60637 USA

[2] Brigham & Womens Hosp, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Boston, MA USA

[4] Wayne State Univ, Detroit, MI USA

来源：

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE | 2013年 / 187卷 / 06期

关键词：

TUBEROUS-SCLEROSIS; TSC2; MARKERS; CELLS; GENE;

D O I：

10.1164/ajrccm.187.6.663

中图分类号：

R4 [临床医学];

学科分类号：

1002 ; 100602 ;

摘要：

引用

页码：663 / 665

页数：3

共 16 条

[1]

Badri KR, 2012, FASEB J, V26, pIb498

[2]

Badri KR, 2010, 1 EUR LAM C OCT 1 3

[3] Phenotypic Characterization of Disseminated Cells with TSC2 Loss of Heterozygosity in Patients with Lymphangioleiomyomatosis [J].

Cai, Xiong ;

Pacheco-Rodriguez, Gustavo ;

Fan, Qing-Yuan ;

Haughey, Mary ;

Samsel, Leigh ;

El-Chemaly, Souheil ;

Wu, Hai-Ping ;

McCoy, J. Philip ;

Steagall, Wendy K. ;

Lin, Jing-Ping ;

Darling, Thomas N. ;

Moss, Joel .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2010, 182 (11) :1410-1418

[4] Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis [J].

Carsillo, T ;

Astrinidis, A ;

Henske, EP .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (11) :6085-6090

[5] Emerging clinical picture of lymphangioleiomyomatosis [J].

Cohen, MM ;

Pollock-BarZiv, S ;

Johnson, SR .

THORAX, 2005, 60 (10) :875-879

[6] Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosis [J].

Crooks, DM ;

Pacheco-Rodriguez, G ;

DeCastro, RM ;

McCoy, JP ;

Wang, J ;

Kumaki, F ;

Darling, T ;

Moss, J .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (50) :17462-17467

[7] Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation -: A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM) [J].

Goncharova, EA ;

Goncharov, DA ;

Eszterhas, A ;

Hunter, DS ;

Glassberg, MK ;

Yeung, RS ;

Walker, CL ;

Noonan, D ;

Kwiatkowski, DJ ;

Chou, MM ;

Panettieri, RA ;

Krymskaya, VP .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (34) :30958-30967

[8] Lymphangioleiomyomatosis: A review [J].

Hohman, Donald W. ;

Noghrehkar, Dena ;

Ratnayake, Saman .

EUROPEAN JOURNAL OF INTERNAL MEDICINE, 2008, 19 (05) :319-324

[9] Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways [J].

Kwiatkowski, DJ ;

Manning, BD .

HUMAN MOLECULAR GENETICS, 2005, 14 :R251-R258

[10] Markers of cell proliferation and expression of melanosomal antigen in lymphangioleiomyomatosis [J].

Matsumoto, Y ;

Horiba, K ;

Usuki, J ;

Chu, SC ;

Ferrans, VJ ;

Moss, J .

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 1999, 21 (03) :327-336

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