Two variants in STK11 gene in Chinese patients with Peutz-Jeghers syndrome

被引：2

作者：

Liu, Dan ^{[1
]}

Guo, Hong ^{[1
]}

Xu, Xueqing ^{[1
]}

Yu, Yanyan ^{[1
]}

Bai, Yun ^{[1
]}

机构：

[1] Third Mil Med Univ, Dept Med Genet, Coll Basic Med Sci, Chongqing 400038, Peoples R China

来源：

JOURNAL OF GENETICS | 2012年 / 91卷 / 02期

关键词：

Peutz-Jeghers syndrome; serine-threonine kinase 11; family; mutation; LKB1; ACTIVATE;

D O I：

10.1007/s12041-012-0152-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：205 / 208

页数：4

共 11 条

[1] Genotype-phenotype correlations in Peutz-Jeghers syndrome [J].

Amos, CI ;

Keitheri-Cheteri, MB ;

Sabripour, M ;

Wei, C ;

McGarrity, TJ ;

Seldin, MF ;

Nations, L ;

Lynch, PM ;

Fidder, HH ;

Friedman, E ;

Frazier, ML .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (05) :327-333

[2] Peutz-Jeghers syndrome: a systematic review and recommendations for management [J].

Beggs, A. D. ;

Latchford, A. R. ;

Vasen, H. F. A. ;

Moslein, G. ;

Alonso, A. ;

Aretz, S. ;

Bertario, L. ;

Blanco, I. ;

Bulow, S. ;

Burn, J. ;

Capella, G. ;

Colas, C. ;

Friedl, W. ;

Moller, P. ;

Hes, F. J. ;

Jarvinen, H. ;

Mecklin, J-P ;

Nagengast, F. M. ;

Parc, Y. ;

Phillips, R. K. S. ;

Hyer, W. ;

de Leon, M. Ponz ;

Renkonen-Sinisalo, L. ;

Sampson, J. R. ;

Stormorken, A. ;

Tejpar, S. ;

Thomas, H. J. W. ;

Wijnen, J. T. ;

Clark, S. K. ;

Hodgson, S. V. .

GUT, 2010, 59 (07) :975-986

[3] MO25α/β interact with STRADα/β enhancing their ability to bind, activate and localize LKB1 in the cytoplasm [J].

Boudeau, J ;

Baas, AF ;

Deak, M ;

Morrice, NA ;

Kieloch, A ;

Schutkowski, M ;

Prescott, AR ;

Clevers, HC ;

Alessi, DR .

EMBO JOURNAL, 2003, 22 (19) :5102-5114

[4] Functional analysis of Peutz-Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity [J].

Forcet, C ;

Etienne-Manneville, S ;

Gaude, H ;

Fournier, L ;

Debilly, S ;

Salmi, M ;

Baas, A ;

Olschwang, S ;

Clevers, H ;

Billaud, M .

HUMAN MOLECULAR GENETICS, 2005, 14 (10) :1283-1292

[5] Frequency and spectrum of cancers in the Peutz-Jeghers syndrome [J].

Hearle, Nicholas ;

Schumacher, Valerie ;

Menko, Fred H. ;

Olschwang, Sylviane ;

Boardman, Lisa A. ;

Gille, Johan J. P. ;

Keller, Josbert J. ;

Westerman, Anne Marie ;

Scott, RodneyJ. ;

Lim, Wendy ;

Trimbath, Jill D. ;

Giardiello, Francis M. ;

Gruber, Stephen B. ;

Offerhaus, G. Johan A. ;

de Rooij, Felix W. M. ;

Wilson, J. H. Paul ;

Hansmann, Anika ;

Moslein, Gabriela ;

Royer-Pokora, Brigitte ;

Vogel, Tilman ;

Phillips, Robin K. S. ;

Spigelman, Allan D. ;

Houlston, Richard S. .

CLINICAL CANCER RESEARCH, 2006, 12 (10) :3209-3215

[6] The Peutz-Jegher gene product LKB1 is a mediator of p53-dependent cell death [J].

Karuman, P ;

Gozani, O ;

Odze, RD ;

Zhou, XC ;

Zhu, H ;

Shaw, R ;

Brien, TP ;

Bozzuto, CD ;

Ooi, D ;

Cantley, LC ;

Yuan, JY .

MOLECULAR CELL, 2001, 7 (06) :1307-1319

[7] Peutz-Jeghers LKB1 mutants fail to activate GSK-3β, preventing it from inhibiting Wnt signaling [J].

Lin-Marq, N ;

Borel, C ;

Antonarakis, SE .

MOLECULAR GENETICS AND GENOMICS, 2005, 273 (02) :184-196

[8]

MORTON DG, 1992, GENETICS, V130, P771

[9] Ionizing radiation induces ataxia telangiectasia mutated kinase (ATM)-mediated phosphorylation of LKB1/STK11 at Thr-366 [J].

Sapkota, GP ;

Deak, M ;

Kieloch, A ;

Morrice, N ;

Goodarzi, AA ;

Smythe, C ;

Shiloh, Y ;

Lees-Miller, SP ;

Alessi, DR .

BIOCHEMICAL JOURNAL, 2002, 368 (02) :507-516

[10] Growth suppression by Lkb1 is mediated by a G1 cell cycle arrest [J].

Tiainen, M ;

Ylikorkala, A ;

Mäkelä, TP .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (16) :9248-9251

← 1 2 →