Literature DB >> 22313374

The homozygous mutation G75R in the human SLC11A2 gene leads to microcytic anaemia and iron overload.

Marta Barrios, María-Isabel Moreno-Carralero, Nuria Cuadrado-Grande, María Baro, José-Luis Vivanco, María-Josefa Morán-Jiménez.   

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Year:  2012        PMID: 22313374     DOI: 10.1111/j.1365-2141.2012.09043.x

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


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  5 in total

1.  Crystal Structure and Conformational Change Mechanism of a Bacterial Nramp-Family Divalent Metal Transporter.

Authors:  Aaron T Bozzi; Lukas B Bane; Wilhelm A Weihofen; Abhishek Singharoy; Eduardo R Guillen; Hidde L Ploegh; Klaus Schulten; Rachelle Gaudet
Journal:  Structure       Date:  2016-11-10       Impact factor: 5.006

2.  New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation.

Authors:  Lídia Romero-Cortadellas; Gonzalo Hernández; Xènia Ferrer-Cortès; Laura Zalba-Jadraque; José Luis Fuster; Mar Bermúdez-Cortés; Ana María Galera-Miñarro; Santiago Pérez-Montero; Cristian Tornador; Mayka Sánchez
Journal:  Int J Mol Sci       Date:  2022-04-15       Impact factor: 6.208

Review 3.  Iron transport machinery of human cells: players and their interactions.

Authors:  Ningning Zhao; Caroline A Enns
Journal:  Curr Top Membr       Date:  2012       Impact factor: 3.049

4.  Differences in the frequency of genetic variants associated with iron imbalance among global populations.

Authors:  Momodou W Jallow; Carla Cerami; Taane G Clark; Andrew M Prentice; Susana Campino
Journal:  PLoS One       Date:  2020-07-01       Impact factor: 3.240

5.  Structures in multiple conformations reveal distinct transition metal and proton pathways in an Nramp transporter.

Authors:  Aaron T Bozzi; Christina M Zimanyi; John M Nicoludis; Brandon K Lee; Casey H Zhang; Rachelle Gaudet
Journal:  Elife       Date:  2019-02-04       Impact factor: 8.140

  5 in total

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