Literature DB >> 27177411

Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.

Ludovica Ferbo1, Paola M Manzini2, Sadaf Badar3, Natascia Campostrini3, Alberto Ferrarini4, Massimo Delledonne4, Tiziana Francisci2, Valter Tassi2, Adriano Valfrè2, Anna M Dall'omo2, Sergio D'antico2, Domenico Girelli3, Antonella Roetto1, Marco De Gobbi1.   

Abstract

Year:  2016        PMID： 27177411      PMCID： PMC5111378          DOI： 10.2450/2016.0286-15

Source DB:  PubMed          Journal:  Blood Transfus        ISSN： 1723-2007            Impact factor:   3.443


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  18 in total

1.  Monitoring of hepcidin levels in a patient with G80S-linked ferroportin disease undergoing iron depletion by phlebotomy.

Authors:  Fleur Wolff; Benjamin Bailly; Béatrice Gulbis; Frédéric Cotton
Journal:  Clin Chim Acta       Date:  2013-12-24       Impact factor: 3.786

2.  Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor.

Authors:  Roman Praschberger; Melanie Schranz; William J H Griffiths; Nadja Baumgartner; Martin Hermann; David J Lomas; Antonello Pietrangelo; Timothy M Cox; Wolfgang Vogel; Heinz Zoller
Journal:  Biochim Biophys Acta       Date:  2014-05-21

3.  Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation.

Authors:  Ronald L Sham; Pradyumna D Phatak; Elizabeta Nemeth; Tomas Ganz
Journal:  Blood       Date:  2009-07-09       Impact factor: 22.113

Review 4.  Application of next-generation sequencing technologies in Neurology.

Authors:  Teng Jiang; Meng-Shan Tan; Lan Tan; Jin-Tai Yu
Journal:  Ann Transl Med       Date:  2014-12

Review 5.  Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.

Authors:  Antonello Pietrangelo
Journal:  Gastroenterology       Date:  2010-06-11       Impact factor: 22.682

6.  Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.

Authors:  Michela Traglia; Domenico Girelli; Ginevra Biino; Natascia Campostrini; Michela Corbella; Cinzia Sala; Corrado Masciullo; Fiammetta Viganò; Iwan Buetti; Giorgio Pistis; Massimiliano Cocca; Clara Camaschella; Daniela Toniolo
Journal:  J Med Genet       Date:  2011-07-23       Impact factor: 6.318

7.  Immunoassay for human serum hepcidin.

Authors:  Tomas Ganz; Gordana Olbina; Domenico Girelli; Elizabeta Nemeth; Mark Westerman
Journal:  Blood       Date:  2008-08-08       Impact factor: 22.113

8.  A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis.

Authors:  Domenico Girelli; Paola Trombini; Fabiana Busti; Natascia Campostrini; Marco Sandri; Sara Pelucchi; Mark Westerman; Tomas Ganz; Elizabeta Nemeth; Alberto Piperno; Clara Camaschella
Journal:  Haematologica       Date:  2010-12-20       Impact factor: 9.941

9.  Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

Authors:  Roman Mayr; Andreas R Janecke; Melanie Schranz; William J H Griffiths; Wolfgang Vogel; Antonello Pietrangelo; Heinz Zoller
Journal:  J Hepatol       Date:  2010-07-17       Impact factor: 25.083

10.  Hepcidin is decreased in TFR2 hemochromatosis.

Authors:  Elizabeta Nemeth; Antonella Roetto; Giovanni Garozzo; Tomas Ganz; Clara Camaschella
Journal:  Blood       Date:  2004-10-14       Impact factor: 22.113
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  5 in total

1.  Ferroportin deficiency in erythroid cells causes serum iron deficiency and promotes hemolysis due to oxidative stress.

Authors:  De-Liang Zhang; Manik C Ghosh; Hayden Ollivierre; Yan Li; Tracey A Rouault
Journal:  Blood       Date:  2018-09-13       Impact factor: 22.113

2.  Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin.

Authors:  Sharraya Aschemeyer; Bo Qiao; Deborah Stefanova; Erika V Valore; Albert C Sek; T Alex Ruwe; Kyle R Vieth; Grace Jung; Carla Casu; Stefano Rivella; Mika Jormakka; Bryan Mackenzie; Tomas Ganz; Elizabeta Nemeth
Journal:  Blood       Date:  2017-12-13       Impact factor: 22.113

3.  Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis.

Authors:  Aleša Kristan; Tadej Pajič; Aleš Maver; Tadeja Režen; Tanja Kunej; Rok Količ; Andrej Vuga; Martina Fink; Špela Žula; Helena Podgornik; Saša Anžej Doma; Irena Preložnik Zupan; Damjana Rozman; Nataša Debeljak
Journal:  Front Genet       Date:  2021-07-19       Impact factor: 4.599

Review 4.  Ferroportin disease: pathogenesis, diagnosis and treatment.

Authors:  Antonello Pietrangelo
Journal:  Haematologica       Date:  2017-11-03       Impact factor: 9.941

Review 5.  Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Authors:  L Tom Vlasveld; Roel Janssen; Edouard Bardou-Jacquet; Hanka Venselaar; Houda Hamdi-Roze; Hal Drakesmith; Dorine W Swinkels
Journal:  Pharmaceuticals (Basel)       Date:  2019-09-09
  5 in total

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