Identification of TINF2 gene mutations in adult Japanese patients with acquired bone marrow failure syndromes

被引：8

作者：

Yamaguchi, Hiroki ^{[1
]}

Inokuchi, Koiti ^{[1
]}

Takeuchi, Junko ^{[1
]}

Tamai, Hayato ^{[1
]}

Mitamura, Yoshio ^{[1
]}

Kosaka, Fumiko ^{[1
]}

Ly, Hinh ^{[2
]}

Dan, Kazuo ^{[1
]}

机构：

[1] Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, Japan

[2] Emory Univ, Sch Med, Dept Pathol & Lab Med, Atlanta, GA 30322 USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2010年 / 150卷 / 06期

关键词：

TINF2; telomere; bone marrow failure; aplastic anaemia; Dyskeratosis congenita; DYSKERATOSIS-CONGENITA; APLASTIC-ANEMIA;

D O I：

10.1111/j.1365-2141.2010.08278.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：725 / 727

页数：3

共 7 条

[1] Telomere maintenance and human bone marrow failure [J].

Calado, Rodrigo T. ;

Young, Neal S. .

BLOOD, 2008, 111 (09) :4446-4455

[2] Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells [J].

Calado, Rodrigo T. ;

Yewdell, William T. ;

Wilkerson, Keisha L. ;

Regal, Joshua A. ;

Kajigaya, Sachiko ;

Stratakis, Constantine A. ;

Young, Neal S. .

BLOOD, 2009, 114 (11) :2236-2243

[3] TINF2 Mutations in Children With Severe Aplastic Anemia [J].

Du, Hong-Yan ;

Mason, Philip J. ;

Bessler, Monica ;

Wilson, David B. .

PEDIATRIC BLOOD & CANCER, 2009, 52 (05) :687-687

[4] The epidemiology of aplastic anemia in Thailand [J].

Issaragrisil, S ;

Kaufman, DW ;

Anderson, T ;

Chansung, K ;

Leaverton, PE ;

Shapiro, S ;

Young, NS .

BLOOD, 2006, 107 (04) :1299-1307

[5] TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita [J].

Savage, Sharon A. ;

Giri, Neelarn ;

Baerlocher, Gabriela M. ;

Orr, Nick ;

Lansdorp, Peter M. ;

Alter, Blanche P. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (02) :501-509

[6] TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes [J].

Walne, Amanda J. ;

Vulliamy, Tom ;

Beswick, Richard ;

Kirwan, Michael ;

Dokal, Inderjeet .

BLOOD, 2008, 112 (09) :3594-3600

[7] Advances in the understanding of dyskeratosis congenita [J].

Walne, Amanda J. ;

Dokal, Inderjeet .

BRITISH JOURNAL OF HAEMATOLOGY, 2009, 145 (02) :164-172

← 1 →