Literature DB >> 18154916

Natural history of recessive inheritance of DMT1 mutations.

A Iolascon1, C Camaschella, D Pospisilova, C Piscopo, G Tchernia, C Beaumont.   

Abstract

DMT1 deficiency causes microcytic hypochromic anemia due to decreased erythroid iron utilization. Anemia is present from birth. Transferrin saturation is high and serum ferritin is mildly elevated, despite liver iron overload. DMT1 deficiency must be considered in the differential diagnosis of microcytic hypochromic anemia observed in the newborn period.

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Year:  2008        PMID： 18154916     DOI： 10.1016/j.jpeds.2007.08.041

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  10 in total

1.  Restored iron transport by a small molecule promotes absorption and hemoglobinization in animals.

Authors:  Anthony S Grillo; Anna M SantaMaria; Martin D Kafina; Alexander G Cioffi; Nicholas C Huston; Murui Han; Young Ah Seo; Yvette Y Yien; Christopher Nardone; Archita V Menon; James Fan; Dillon C Svoboda; Jacob B Anderson; John D Hong; Bruno G Nicolau; Kiran Subedi; Andrew A Gewirth; Marianne Wessling-Resnick; Jonghan Kim; Barry H Paw; Martin D Burke
Journal:  Science       Date:  2017-05-12       Impact factor: 47.728

Review 2.  Iron and erythropoiesis: a dual relationship.

Authors:  Clara Camaschella; Alessia Pagani
Journal:  Int J Hematol       Date:  2010-12-18       Impact factor: 2.490

Review 3.  Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis.

Authors:  Achille Iolascon; Luigia De Falco; Carole Beaumont
Journal:  Haematologica       Date:  2009-01-30       Impact factor: 9.941

4.  Nramp1 promotes efficient macrophage recycling of iron following erythrophagocytosis in vivo.

Authors:  Shan Soe-Lin; Sameer S Apte; Billy Andriopoulos; Marc C Andrews; Matthias Schranzhofer; Tanya Kahawita; Daniel Garcia-Santos; Prem Ponka
Journal:  Proc Natl Acad Sci U S A       Date:  2009-03-24       Impact factor: 11.205

Review 5.  Iron homeostasis in the liver.

Authors:  Erik R Anderson; Yatrik M Shah
Journal:  Compr Physiol       Date:  2013-01       Impact factor: 9.090

6.  Use of Nramp2-transfected Chinese hamster ovary cells and reticulocytes from mk/mk mice to study iron transport mechanisms.

Authors:  An-Sheng Zhang; Francois Canonne-Hergaux; Samantha Gruenheid; Philippe Gros; Prem Ponka
Journal:  Exp Hematol       Date:  2008-08-22       Impact factor: 3.084

7.  Erythropoietin-driven signaling ameliorates the survival defect of DMT1-mutant erythroid progenitors and erythroblasts.

Authors:  Monika Horvathova; Katarina Kapralova; Zuzana Zidova; Dalibor Dolezal; Dagmar Pospisilova; Vladimir Divoky
Journal:  Haematologica       Date:  2012-05-11       Impact factor: 9.941

8.  Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation.

Authors:  Anita Kloss-Brandstätter; Gertraud Erhart; Claudia Lamina; Bernhard Meister; Margot Haun; Stefan Coassin; Markus Seifert; Andreas Klein-Franke; Bernhard Paulweber; Lyudmyla Kedenko; Barbara Kollerits; Dorine W Swinkels; Sita H Vermeulen; Tessel E Galesloot; Florian Kronenberg; Günter Weiss
Journal:  PLoS One       Date:  2012-04-11       Impact factor: 3.240

9.  A novel proton transfer mechanism in the SLC11 family of divalent metal ion transporters.

Authors:  Jonai Pujol-Giménez; Matthias A Hediger; Gergely Gyimesi
Journal:  Sci Rep       Date:  2017-07-28       Impact factor: 4.379

10.  Dynamics of Erythropoietic Biomarkers in Response to Treatment With Erythropoietin in Belgrade Rats.

Authors:  Ly M Nguyen; Aman P Singh; Pawel Wiczling; Wojciech Krzyzanski
Journal:  Front Pharmacol       Date:  2018-04-10       Impact factor: 5.810
  10 in total

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