Literature DB >> 24766296

Recurrent GATA1 mutations in Diamond-Blackfan anaemia.

Joakim Klar1, Ayda Khalfallah, Pakeeza Shaiq Arzoo, Hanna T Gazda, Niklas Dahl.   

Abstract

Entities:  

Keywords:  Diamond-Blackfan anaemia; GATA1 gene; recurrent mutation

Mesh：

Substances：

Year:  2014        PMID： 24766296     DOI： 10.1111/bjh.12919

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


× No keyword cloud information.
  22 in total

1.  The Genetic Landscape of Diamond-Blackfan Anemia.

Authors:  Jacob C Ulirsch; Jeffrey M Verboon; Shideh Kazerounian; Michael H Guo; Daniel Yuan; Leif S Ludwig; Robert E Handsaker; Nour J Abdulhay; Claudia Fiorini; Giulio Genovese; Elaine T Lim; Aaron Cheng; Beryl B Cummings; Katherine R Chao; Alan H Beggs; Casie A Genetti; Colin A Sieff; Peter E Newburger; Edyta Niewiadomska; Michal Matysiak; Adrianna Vlachos; Jeffrey M Lipton; Eva Atsidaftos; Bertil Glader; Anupama Narla; Pierre-Emmanuel Gleizes; Marie-Françoise O'Donohue; Nathalie Montel-Lehry; David J Amor; Steven A McCarroll; Anne H O'Donnell-Luria; Namrata Gupta; Stacey B Gabriel; Daniel G MacArthur; Eric S Lander; Monkol Lek; Lydie Da Costa; David G Nathan; Andrei A Korostelev; Ron Do; Vijay G Sankaran; Hanna T Gazda
Journal:  Am J Hum Genet       Date:  2018-11-29       Impact factor: 11.025

2.  Single-cell analyses demonstrate that a heme-GATA1 feedback loop regulates red cell differentiation.

Authors:  Raymond T Doty; Xiaowei Yan; Christopher Lausted; Adam D Munday; Zhantao Yang; Danielle Yi; Neda Jabbari; Li Liu; Siobán B Keel; Qiang Tian; Janis L Abkowitz
Journal:  Blood       Date:  2018-12-10       Impact factor: 22.113

3.  Molecular convergence in ex vivo models of Diamond-Blackfan anemia.

Authors:  Kelly A O'Brien; Jason E Farrar; Adrianna Vlachos; Stacie M Anderson; Crystiana A Tsujiura; Jens Lichtenberg; Lionel Blanc; Eva Atsidaftos; Abdel Elkahloun; Xiuli An; Steven R Ellis; Jeffrey M Lipton; David M Bodine
Journal:  Blood       Date:  2017-04-04       Impact factor: 22.113

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

Authors:  Fumika Ikeda; Kenichi Yoshida; Tsutomu Toki; Tamayo Uechi; Shiori Ishida; Yukari Nakajima; Yoji Sasahara; Yusuke Okuno; Rika Kanezaki; Kiminori Terui; Takuya Kamio; Akie Kobayashi; Takashi Fujita; Aiko Sato-Otsubo; Yuichi Shiraishi; Hiroko Tanaka; Kenichi Chiba; Hideki Muramatsu; Hitoshi Kanno; Shouichi Ohga; Akira Ohara; Seiji Kojima; Naoya Kenmochi; Satoru Miyano; Seishi Ogawa; Etsuro Ito
Journal:  Haematologica       Date:  2016-12-01       Impact factor: 9.941

5.  The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70.

Authors:  Marc Gastou; Sarah Rio; Michaël Dussiot; Narjesse Karboul; Hélène Moniz; Thierry Leblanc; Margaux Sevin; Patrick Gonin; Jérome Larghéro; Carmen Garrido; Anupama Narla; Narla Mohandas; William Vainchenker; Olivier Hermine; Eric Solary; Lydie Da Costa
Journal:  Blood Adv       Date:  2017-10-10

6.  A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5'UTR GATA1s Splice Mutation.

Authors:  Jacob Zucker; Constance Temm; Magdalena Czader; Grzegorz Nalepa
Journal:  Pediatr Blood Cancer       Date:  2015-12-29       Impact factor: 3.167

7.  Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report.

Authors:  Ikuo Matsuda; Yasu-aki Tsuchida; Fumihiko Toyoshima; Katsuyuki Tozawa; Hisatomo Ikehara; Yoshio Ohda; Kazutoshi Hori; Yoshitoshi Ohtsuka; Jiro Watari; Hiroto Miwa; Seiichi Hirota
Journal:  Int J Clin Exp Pathol       Date:  2015-05-01

Review 8.  Genetics of inherited thrombocytopenias.

Authors:  Julia T Warren; Jorge Di Paola
Journal:  Blood       Date:  2022-06-02       Impact factor: 25.476

9.  Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia.

Authors:  Shubhranshu Debnath; Pekka Jaako; Kavitha Siva; Michael Rothe; Jun Chen; Maria Dahl; H Bobby Gaspar; Johan Flygare; Axel Schambach; Stefan Karlsson
Journal:  Mol Ther       Date:  2017-04-20       Impact factor: 11.454

Review 10.  GATA1 mutations in red cell disorders.

Authors:  Te Ling; John D Crispino
Journal:  IUBMB Life       Date:  2019-10-25       Impact factor: 3.885
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.