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

[21] Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia
Gazda, Hanna T.
Kho, Alvin T.
Sanoudou, Despina
Zaucha, Jan M.
Kohane, Isaac S.
Sieff, Colin A.
Beggs, Alan H.
STEM CELLS, 2006, 24 (09) : 2034 - 2044
[22] Diamond-Blackfan anemia syndrome in an adult with RPS19 and DDX41 variants successfully treated with allogeneic stem cell transplantation: a case report
Gosho, Kentaro
Sadato, Daichi
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Inai, Kazuki
Shimizu, Hiroaki
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Nakamura, Yuichi
Harada, Hironori
Harada, Yuka
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LEUKEMIA & LYMPHOMA, 2025,
[23] Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare
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Jose Gil-Fernandez, Juan
Vazquez Blanco, Miguel
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[24] Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease
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[28] Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis
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[29] The Use of B-Cell Polysome Profiling to Validate Novel RPL5 (uL18) and RPL26 (uL24) Variants in Diamond-Blackfan Anemia
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[30] Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa
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