Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia

被引：27

作者：

Ikeda, Fumika ^{[1
]}

Yoshida, Kenichi ^{[2
,3
]}

Toki, Tsutomu ^{[1
]}

Uechi, Tamayo ^{[4
]}

Ishida, Shiori ^{[4
]}

Nakajima, Yukari ^{[4
]}

Sasahara, Yoji ^{[5
]}

Okuno, Yusuke ^{[2
,6
]}

Kanezaki, Rika ^{[1
]}

Terui, Kiminori ^{[1
]}

Kamio, Takuya ^{[1
]}

Kobayashi, Akie ^{[1
]}

Fujita, Takashi ^{[1
]}

Sato-Otsubo, Aiko ^{[2
,3
]}

Shiraishi, Yuichi ^{[7
]}

Tanaka, Hiroko ^{[7
]}

Chiba, Kenichi ^{[7
]}

Muramatsu, Hideki ^{[6
]}

Kanno, Hitoshi ^{[9
]}

Ohga, Shouichi ^{[10
]}

Ohara, Akira ^{[11
]}

Kojima, Seiji ^{[6
]}

Kenmochi, Naoya ^{[4
]}

Miyano, Satoru ^{[7
,8
]}

Ogawa, Seishi ^{[2
,3
]}

Ito, Etsuro ^{[1
]}

机构：

[1] Hirosaki Univ, Grad Sch Med, Dept Pediat, Hirosaki, Aomori, Japan

[2] Univ Tokyo, Grad Sch Med, Canc Genom Project, Tokyo, Japan

[3] Kyoto Univ, Grad Sch Med, Dept Pathol & Tumor Biol, Kyoto, Japan

[4] Univ Miyazaki, Frontier Sci Res Ctr, Miyazaki, Japan

[5] Tohoku Univ, Grad Sch Med, Dept Pediat, Sendai, Miyagi, Japan

[6] Nagoya Univ, Grad Sch Med, Dept Pediat, Nagoya, Aichi, Japan

[7] Univ Tokyo

[8] Univ Tokyo

[9] Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan

[10] Kyushu Univ, Grad Sch Med, Dept Pediat, Fukuoka, Japan

[11] Toho Univ, Omori Hosp, Dept Pediat, Tokyo, Japan

来源：

HAEMATOLOGICA | 2017年 / 102卷 / 03期

关键词：

RIBOSOMAL-PROTEIN GENES; MUTATIONS;

D O I：

10.3324/haematol.2016.153932

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：E93 / E96

页数：4

共 38 条

[1] Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families
Mirabello, Lisa
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BLOOD, 2014, 124 (01) : 24 - 32
[2] Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing
Ichimura, Takuya
Yoshida, Kenichi
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Yujiri, Toshiaki
Nagai, Kozo
Nishi, Masanori
Shiraishi, Yuichi
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Tanaka, Hiroko
Muramatsu, Hideki
Hara, Toshiro
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Miyano, Satoru
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Ohga, Shouichi
INTERNATIONAL JOURNAL OF HEMATOLOGY, 2017, 105 (04) : 515 - 520
[3] Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia
Wang, RuNan
Yoshida, Kenichi
Toki, Tsutomu
Sawada, Takafumi
Uechi, Tamayo
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Sato-Otsubo, Aiko
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Ogawa, Seishi
Ito, Etsuro
BRITISH JOURNAL OF HAEMATOLOGY, 2015, 168 (06) : 854 - 864
[4] Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia
Utsugisawa, Taiju
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Aoki, Takako
Hamaguchi, Isao
Ishiguro, Akira
Ohara, Akira
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Ito, Etsuro
Kanno, Hitoshi
BLOOD CELLS MOLECULES AND DISEASES, 2016, 59 : 31 - 36
[5] Ribosomal protein gene deletions in Diamond-Blackfan anemia
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Vlachos, Adrianna
Atsidaftos, Eva
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Lipton, Jeffrey M.
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BLOOD, 2011, 118 (26) : 6943 - 6951
[6] Towards a Cure for Diamond-Blackfan Anemia: Views on Gene Therapy
Vale, Matilde
Prochazka, Jan
Sedlacek, Radislav
CELLS, 2024, 13 (11)
[7] Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia
Kuramitsu, Madoka
Sato-Otsubo, Aiko
Morio, Tomohiro
Takagi, Masatoshi
Toki, Tsutomu
Terui, Kiminori
Wang, RuNan
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Ito, Etsuro
Hamaguchi, Isao
BLOOD, 2012, 119 (10) : 2376 - 2384
[8] Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia
Doherty, Leana
Sheen, Mee Rie
Vlachos, Adrianna
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AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (02) : 222 - 228
[9] Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions
Volejnikova, Jana
Vojta, Petr
Urbankova, Helena
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Horvathova, Monika
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Hajduch, Marian
Pospisilova, Dagmar
BLOOD CELLS MOLECULES AND DISEASES, 2020, 81
[10] Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemia
Jaako, Pekka
Debnath, Shubhranshu
Olsson, Karin
Modlich, Ute
Rothe, Michael
Schambach, Axel
Flygare, Johan
Karlsson, Stefan
HAEMATOLOGICA, 2014, 99 (12) : 1792 - 1798

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