Literature DB >> 19747362

A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia.

Eunice S Edison, Rekha Athiyarath, Thirugnanam Rajasekar, Mark Westerman, Alok Srivastava, Mammen Chandy.   

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Year:  2009        PMID： 19747362     DOI： 10.1111/j.1365-2141.2009.07879.x

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


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  6 in total

1.  N-glycosylation is required for matriptase-2 autoactivation and ectodomain shedding.

Authors:  Jiang Jiang; Jianfeng Yang; Ping Feng; Bin Zuo; Ningzheng Dong; Qingyu Wu; Yang He
Journal:  J Biol Chem       Date:  2014-05-27       Impact factor: 5.157

2.  Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia.

Authors:  Tsutomu Sato; Satoshi Iyama; Kazuyuki Murase; Yusuke Kamihara; Kaoru Ono; Shohei Kikuchi; Kohichi Takada; Koji Miyanishi; Yasushi Sato; Rishu Takimoto; Masayoshi Kobune; Junji Kato
Journal:  Int J Hematol       Date:  2011-06-04       Impact factor: 2.490

3.  Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy.

Authors:  Dong-Anh Khuong-Quang; Jeremy Schwartzentruber; Mark Westerman; Pierre Lepage; Karin E Finberg; Jacek Majewski; Nada Jabado
Journal:  Pediatrics       Date:  2013-01-14       Impact factor: 7.124

4.  Identification and characterization of a novel murine allele of Tmprss6.

Authors:  Thomas B Bartnikas; Andrea U Steinbicker; Dean R Campagna; Sherika Blevins; Lanette S Woodward; Carolina Herrera; Kenneth D Bloch; Monica J Justice; Mark D Fleming
Journal:  Haematologica       Date:  2013-01-08       Impact factor: 9.941

5.  Iron-refractory iron deficiency anemia.

Authors:  Ebru Yılmaz Keskin; İdil Yenicesu
Journal:  Turk J Haematol       Date:  2015-03-05       Impact factor: 1.831

6.  Functional diversity of TMPRSS6 isoforms and variants expressed in hepatocellular carcinoma cell lines.

Authors:  Sébastien P Dion; François Béliveau; Louis-Philippe Morency; Antoine Désilets; Rafaël Najmanovich; Richard Leduc
Journal:  Sci Rep       Date:  2018-08-22       Impact factor: 4.379
  6 in total

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