Literature DB >> 27909223

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

Fumika Ikeda1, Kenichi Yoshida2,3, Tsutomu Toki1, Tamayo Uechi4, Shiori Ishida4, Yukari Nakajima4, Yoji Sasahara5, Yusuke Okuno2,6, Rika Kanezaki1, Kiminori Terui1, Takuya Kamio1, Akie Kobayashi1, Takashi Fujita1, Aiko Sato-Otsubo2,3, Yuichi Shiraishi7, Hiroko Tanaka7, Kenichi Chiba7, Hideki Muramatsu6, Hitoshi Kanno8, Shouichi Ohga9, Akira Ohara10, Seiji Kojima6, Naoya Kenmochi4, Satoru Miyano7,11, Seishi Ogawa12,3, Etsuro Ito13.   

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Year:  2016        PMID： 27909223      PMCID： PMC5394974          DOI： 10.3324/haematol.2016.153932

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  15 in total

1.  Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.

Authors:  Yuki Konno; Tsutomu Toki; Satoru Tandai; Gang Xu; Runan Wang; Kiminori Terui; Shouichi Ohga; Toshiro Hara; Asahito Hama; Seiji Kojima; Daiichiro Hasegawa; Yoshiyuki Kosaka; Ryu Yanagisawa; Kenichi Koike; Rie Kanai; Tsuyoshi Imai; Teruaki Hongo; Myoung-Ja Park; Kanji Sugita; Etsuro Ito
Journal:  Haematologica       Date:  2010-04-07       Impact factor: 9.941

2.  ACTN1 mutations cause congenital macrothrombocytopenia.

Authors:  Shinji Kunishima; Yusuke Okuno; Kenichi Yoshida; Yuichi Shiraishi; Masashi Sanada; Hideki Muramatsu; Kenichi Chiba; Hiroko Tanaka; Koji Miyazaki; Michio Sakai; Masatoshi Ohtake; Ryoji Kobayashi; Akihiro Iguchi; Gen Niimi; Makoto Otsu; Yoshiyuki Takahashi; Satoru Miyano; Hidehiko Saito; Seiji Kojima; Seishi Ogawa
Journal:  Am J Hum Genet       Date:  2013-02-21       Impact factor: 11.025

3.  Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.

Authors:  Adrianna Vlachos; Philip S Rosenberg; Eva Atsidaftos; Blanche P Alter; Jeffrey M Lipton
Journal:  Blood       Date:  2012-02-23       Impact factor: 22.113

4.  Recurrent GATA1 mutations in Diamond-Blackfan anaemia.

Authors:  Joakim Klar; Ayda Khalfallah; Pakeeza Shaiq Arzoo; Hanna T Gazda; Niklas Dahl
Journal:  Br J Haematol       Date:  2014-04-28       Impact factor: 6.998

5.  Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.

Authors:  Hanna T Gazda; Milena Preti; Mee Rie Sheen; Marie-Françoise O'Donohue; Adrianna Vlachos; Stella M Davies; Antonis Kattamis; Leana Doherty; Michael Landowski; Christopher Buros; Roxanne Ghazvinian; Colin A Sieff; Peter E Newburger; Edyta Niewiadomska; Michal Matysiak; Bertil Glader; Eva Atsidaftos; Jeffrey M Lipton; Pierre-Emmanuel Gleizes; Alan H Beggs
Journal:  Hum Mutat       Date:  2012-04-16       Impact factor: 4.878

6.  Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Authors:  Leana Doherty; Mee Rie Sheen; Adrianna Vlachos; Valerie Choesmel; Marie-Françoise O'Donohue; Catherine Clinton; Hal E Schneider; Colin A Sieff; Peter E Newburger; Sarah E Ball; Edyta Niewiadomska; Michal Matysiak; Bertil Glader; Robert J Arceci; Jason E Farrar; Eva Atsidaftos; Jeffrey M Lipton; Pierre-Emmanuel Gleizes; Hanna T Gazda
Journal:  Am J Hum Genet       Date:  2010-01-28       Impact factor: 11.025

7.  Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

Authors:  Hanna T Gazda; Agnieszka Grabowska; Lilia B Merida-Long; Elzbieta Latawiec; Hal E Schneider; Jeffrey M Lipton; Adrianna Vlachos; Eva Atsidaftos; Sarah E Ball; Karen A Orfali; Edyta Niewiadomska; Lydie Da Costa; Gil Tchernia; Charlotte Niemeyer; Joerg J Meerpohl; Joachim Stahl; Gerhard Schratt; Bertil Glader; Karen Backer; Carolyn Wong; David G Nathan; Alan H Beggs; Colin A Sieff
Journal:  Am J Hum Genet       Date:  2006-11-02       Impact factor: 11.025

8.  Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

Authors:  RuNan Wang; Kenichi Yoshida; Tsutomu Toki; Takafumi Sawada; Tamayo Uechi; Yusuke Okuno; Aiko Sato-Otsubo; Kazuko Kudo; Isamu Kamimaki; Rika Kanezaki; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Kiminori Terui; Tomohiko Sato; Yuji Iribe; Shouichi Ohga; Madoka Kuramitsu; Isao Hamaguchi; Akira Ohara; Junichi Hara; Kumiko Goi; Kousaku Matsubara; Kenichi Koike; Akira Ishiguro; Yasuhiro Okamoto; Kenichiro Watanabe; Hitoshi Kanno; Seiji Kojima; Satoru Miyano; Naoya Kenmochi; Seishi Ogawa; Etsuro Ito
Journal:  Br J Haematol       Date:  2014-11-25       Impact factor: 6.998

9.  The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Authors:  N Draptchinskaia; P Gustavsson; B Andersson; M Pettersson; T N Willig; I Dianzani; S Ball; G Tchernia; J Klar; H Matsson; D Tentler; N Mohandas; B Carlsson; N Dahl
Journal:  Nat Genet       Date:  1999-02       Impact factor: 38.330

10.  Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

Authors:  Lisa Mirabello; Elizabeth R Macari; Lea Jessop; Steven R Ellis; Timothy Myers; Neelam Giri; Alison M Taylor; Katherine E McGrath; Jessica M Humphries; Bari J Ballew; Meredith Yeager; Joseph F Boland; Ji He; Belynda D Hicks; Laurie Burdett; Blanche P Alter; Leonard Zon; Sharon A Savage
Journal:  Blood       Date:  2014-05-14       Impact factor: 25.476
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  16 in total

1.  Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia.

Authors:  Shun Koyamaishi; Takuya Kamio; Akie Kobayashi; Tomohiko Sato; Ko Kudo; Shinya Sasaki; Rika Kanezaki; Daiichiro Hasegawa; Hideki Muramatsu; Yoshiyuki Takahashi; Yoji Sasahara; Hidefumi Hiramatsu; Harumi Kakuda; Miyuki Tanaka; Masataka Ishimura; Masanori Nishi; Akira Ishiguro; Hiromasa Yabe; Takeo Sarashina; Masaki Yamamoto; Yuki Yuza; Nobuyuki Hyakuna; Kenichi Yoshida; Hitoshi Kanno; Shouichi Ohga; Akira Ohara; Seiji Kojima; Satoru Miyano; Seishi Ogawa; Tsutomu Toki; Kiminori Terui; Etsuro Ito
Journal:  Bone Marrow Transplant       Date:  2020-09-18       Impact factor: 5.483

Review 2.  Acquired ribosomopathies in leukemia and solid tumors.

Authors:  Adrianna Vlachos
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2017-12-08

3.  Single-cell analyses reveal early thymic progenitors and pre-B cells in zebrafish.

Authors:  Sara A Rubin; Chloé S Baron; Cecilia Pessoa Rodrigues; Madeleine Duran; Alexandra F Corbin; Song P Yang; Cole Trapnell; Leonard I Zon
Journal:  J Exp Med       Date:  2022-08-08       Impact factor: 17.579

4.  Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.

Authors:  Disha-Gajanan Hiregange; Andre Rivalta; Ada Yonath; Ella Zimmerman; Anat Bashan; Hagith Yonath
Journal:  FEBS Open Bio       Date:  2022-06-06       Impact factor: 2.792

5.  Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond-Blackfan anaemia.

Authors:  Akie Kobayashi; Ryusei Ohtaka; Tsutomu Toki; Junichi Hara; Hideki Muramatsu; Rika Kanezaki; Yuka Takahashi; Tomohiko Sato; Takuya Kamio; Ko Kudo; Shinya Sasaki; Taro Yoshida; Taiju Utsugisawa; Hitoshi Kanno; Kenichi Yoshida; Yasuhito Nannya; Yoshiyuki Takahashi; Seiji Kojima; Satoru Miyano; Seishi Ogawa; Kiminori Terui; Etsuro Ito
Journal:  EJHaem       Date:  2022-01-10

Review 6.  Heterogeneity and specialized functions of translation machinery: from genes to organisms.

Authors:  Naomi R Genuth; Maria Barna
Journal:  Nat Rev Genet       Date:  2018-07       Impact factor: 53.242

7.  Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia.

Authors:  Motoshi Sonoda; Masataka Ishimura; Yuko Ichimiya; Eiko Terashi; Katsuhide Eguchi; Yasunari Sakai; Hidetoshi Takada; Asahito Hama; Hitoshi Kanno; Tsutomu Toki; Etsuro Ito; Shouichi Ohga
Journal:  Int J Hematol       Date:  2018-02-23       Impact factor: 2.490

8.  Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.

Authors:  Anna Aspesi; Valentina Monteleone; Marta Betti; Chiara Actis; Giulia Morleo; Marika Sculco; Simonetta Guarrera; Marcin W Wlodarski; Ugo Ramenghi; Claudio Santoro; Steven R Ellis; Fabrizio Loreni; Antonia Follenzi; Irma Dianzani
Journal:  Sci Rep       Date:  2017-09-20       Impact factor: 4.379

9.  Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.

Authors:  Marcin W Wlodarski; Lydie Da Costa; Marie-Françoise O'Donohue; Marc Gastou; Narjesse Karboul; Nathalie Montel-Lehry; Ina Hainmann; Dominika Danda; Amina Szvetnik; Victor Pastor; Nahuel Paolini; Franca M di Summa; Hannah Tamary; Abed Abu Quider; Anna Aspesi; Riekelt H Houtkooper; Thierry Leblanc; Charlotte M Niemeyer; Pierre-Emmanuel Gleizes; Alyson W MacInnes
Journal:  Haematologica       Date:  2018-03-29       Impact factor: 9.941

10.  A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.

Authors:  Anna Aspesi; Marta Betti; Marika Sculco; Chiara Actis; Cristina Olgasi; Marcin W Wlodarski; Adrianna Vlachos; Jeffrey M Lipton; Ugo Ramenghi; Claudio Santoro; Antonia Follenzi; Steven R Ellis; Irma Dianzani
Journal:  Hum Mutat       Date:  2018-05-28       Impact factor: 4.878
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