Target Enrichment and High-Throughput Sequencing of 80 Ribosomal Protein Genes to Identify Mutations Associated with Diamond-Blackfan Anaemia

被引：0

作者：

Gerrard, Gareth ^{[1
]}

Valganon, Mikel ^{[2
]}

Foong, Hui En

Kasperaviciute, Dalia ^{[3
]}

Mueller, Michael ^{[3
]}

Game, Laurence ^{[4
]}

Iskander, Deena ^{[5
]}

Roberts, Irene ^{[6
]}

Foroni, Letizia ^{[7
]}

de la Fuente, Josu ^{[8
]}

Karadimitris, Anastasios ^{[5
]}

机构：

[1] Univ London Imperial Coll Sci Technol & Med, Dept Haematol, London, England

[2] Imperial Mol Pathol, Haematol, London, England

[3] Univ London Imperial Coll Sci Technol & Med, Imperial NIHR Biomed Res Ctr, London, England

[4] Univ London Imperial Coll Sci Technol & Med, Ctr Clin Sci, Genom Lab, London, England

[5] Univ London Imperial Coll Sci Technol & Med, Div Haematol, London, England

[6] Univ London Imperial Coll Sci Technol & Med, Ctr Haematol, London, England

[7] Univ London Imperial Coll Sci Technol & Med, Imperial Mol Pathol, London, England

[8] Imperial Coll Healthcare NHS Trust, Div Paediat, London, England

来源：

BLOOD | 2012年 / 120卷 / 21期

关键词：

D O I：

10.1182/blood.V120.21.2369.2369

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

2369

引用

页数：2

共 50 条

[1] Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia
Gerrard, Gareth
Valganon, Mikel
Foong, Hui En
Kasperaviciute, Dalia
Iskander, Deena
Game, Laurence
Mueller, Michael
Aitman, Timothy J.
Roberts, Irene
de la Fuente, Josu
Foroni, Letizia
Karadimitris, Anastasios
BRITISH JOURNAL OF HAEMATOLOGY, 2013, 162 (04) : 530 - 536
[2] A High-Throughput Screening Approach to Identify Therapeutics for the Treatment of Diamond-Blackfan Anaemia
Villacis, Lorena Nunez
Al-Obaidi, Sheren J.
Madhamshettiwar, Piyush
Hein, Nadine
Chen, Jun
Soo, Priscilla
Poh, Perlita
Pavy, Megan
Simpson, Kaylene J.
Gonda, Thomas John
Pearson, Richard B.
Flygare, Johan
Hannan, Katherine M.
George, Amee J.
Hannan, Ross
BLOOD, 2018, 132
[3] Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia
Konno, Yuki
Toki, Tsutomu
Tandai, Satoru
Xu, Gang
Wang, RuNan
Terui, Kiminori
Ohga, Shouichi
Hara, Toshiro
Hama, Asahito
Kojima, Seiji
Hasegawa, Daiichiro
Kosaka, Yoshiyuki
Yanagisawa, Ryu
Koike, Kenichi
Kanai, Rie
Imai, Tsuyoshi
Hongo, Teruaki
Park, Myoung-Ja
Sugita, Kanji
Ito, Etsuro
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2010, 95 (08): : 1293 - 1299
[4] Mutations in Ribosomal Protein Genes of Diamond-Blackfan Anemia Patients in Japan
Konno, Yuki
Toki, Tsutomu
Tandai, Satoru
Xu, Gang
Terui, Kiminori
Ohga, Shouichi
Kojima, Seiji
Yanagisawa, Ryu
Koike, Kenichi
Hasegawa, Daiichiro
Kosaka, Yoshiyuki
Kanei, Rie
Imai, Tsuyoshi
Hongo, Teruaki
Park, Myoung-Ja
Watanabe, Arata
Ito, Etsuro
BLOOD, 2009, 114 (22) : 1241 - 1242
[5] Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia
Chae, Hyojin
Park, Joonhong
Lee, Seungok
Kim, Myungshin
Kim, Yonggoo
Lee, Jae-Wook
Chung, Nack-Gyun
Cho, Bin
Jeong, Dae Chul
Kim, Jiyeon
Kim, Jung Rok
Park, Geon
EXPERIMENTAL AND MOLECULAR MEDICINE, 2014, 46 : e88 - e88
[6] Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia
Hyojin Chae
Joonhong Park
Seungok Lee
Myungshin Kim
Yonggoo Kim
Jae-Wook Lee
Nack-Gyun Chung
Bin Cho
Dae Chul Jeong
Jiyeon Kim
Jung Rok Kim
Geon Park
Experimental & Molecular Medicine, 2014, 46 : e88 - e88
[7] The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Draptchinskaia, N
Gustavsson, P
Andersson, B
Pettersson, M
Willig, TN
Dianzani, I
Ball, S
Tchernia, G
Klar, J
Matsson, H
Tentler, D
Mohandas, N
Carlsson, B
Dahl, N
NATURE GENETICS, 1999, 21 (02) : 169 - 175
[8] The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Natalia Draptchinskaia
Peter Gustavsson
Björn Andersson
Monica Pettersson
Thiébaut-Noël Willig
Irma Dianzani
Sarah Ball
Gil Tchernia
Joakim Klar
Hans Matsson
Dimitri Tentler
Narla Mohandas
Birgit Carlsson
Niklas Dahl
Nature Genetics, 1999, 21 : 169 - 175
[9] A New Database for Ribosomal Protein Genes Which Are Mutated in Diamond-Blackfan Anemia
Boria, Ilenia
Quarello, Paola
Avondo, Federica
Garelli, Emanuela
Aspesi, Anna
Carando, Adriana
Campagnoli, Maria Francesca
Dianzani, Irma
Ramenghi, Ugo
HUMAN MUTATION, 2008, 29 (11) : E263 - E270
[10] Impact of Diamond-Blackfan anemia associated mutations on structural dynamics of ribosomal protein uL5
Chowdhury, Anuradha Rai
Sapkota, Divya
Girodat, Dylan
BIOPHYSICAL JOURNAL, 2024, 123 (03) : 362A - 362A

← 1 2 3 4 5 →