Literature DB >> 28840292

A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review.

Tohru Fujiwara1, Noriko Fukuhara1, Satoshi Ichikawa1, Masahiro Kobayashi1, Yoko Okitsu1, Yasushi Onishi1, Kazumichi Furuyama2, Hideo Harigae3.   

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Year:  2017        PMID： 28840292     DOI： 10.1007/s00277-017-3106-7

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


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  6 in total

Review 1.  Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.

Authors:  Kazumichi Furuyama; Kiriko Kaneko
Journal:  Int J Hematol       Date:  2017-11-14       Impact factor: 2.490

2.  Generation and Molecular Characterization of Human Ring Sideroblasts: a Key Role of Ferrous Iron in Terminal Erythroid Differentiation and Ring Sideroblast Formation.

Authors:  Kei Saito; Tohru Fujiwara; Shunsuke Hatta; Masanobu Morita; Koya Ono; Chie Suzuki; Noriko Fukuhara; Yasushi Onishi; Yukio Nakamura; Shin Kawamata; Ritsuko Shimizu; Masayuki Yamamoto; Hideo Harigae
Journal:  Mol Cell Biol       Date:  2019-03-19       Impact factor: 4.272

Review 3.  X-linked sideroblastic anaemia in a female fetus: a case report and a literature review.

Authors:  Diane Nzelu; Panicos Shangaris; Lisa Story; Frances Smith; Chinthika Piyasena; Jayanthi Alamelu; Amira Elmakky; Maria Pelidis; Rachel Mayhew; Srividhya Sankaran
Journal:  BMC Med Genomics       Date:  2021-12-20       Impact factor: 3.063

4.  Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.

Authors:  Koya Ono; Tohru Fujiwara; Kei Saito; Hironari Nishizawa; Noriyuki Takahashi; Chie Suzuki; Tetsuro Ochi; Hiroki Kato; Yusho Ishii; Koichi Onodera; Satoshi Ichikawa; Noriko Fukuhara; Yasushi Onishi; Hisayuki Yokoyama; Rie Yamada; Yukio Nakamura; Kazuhiko Igarashi; Hideo Harigae
Journal:  Sci Rep       Date:  2022-05-30       Impact factor: 4.996

5.  A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.

Authors:  Jinbo Huang; Meili Ge; Yingqi Shao; Min Wang; Peng Jin; Jiali Huo; Xingxin Li; Jing Zhang; Neng Nie; Yizhou Zheng
Journal:  BMC Med Genomics       Date:  2021-04-15       Impact factor: 3.063

6.  Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.

Authors:  Yuki Morimoto; Kazuhisa Chonabayashi; Hiroshi Kawabata; Chikako Okubo; Makiko Yamasaki-Morita; Misato Nishikawa; Megumi Narita; Azusa Inagaki; Kayoko Nakanishi; Miki Nagao; Akifumi Takaori-Kondo; Yoshinori Yoshida
Journal:  Blood Adv       Date:  2022-02-22
  6 in total

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