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Annual Report 2012 - SWG Red Cells and Iron - European ...

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To-Figueras J, Ducamp S, Clayton J, et al. ALAS2 acts as a modifier gene in<br />

patients with congenital erythropoietic porphyria. Blood. 2011; 118:1443-1451.<br />

PMID: 21653323<br />

Brasse-Lagnel C, Karim Z, Letteron P, Bekri S, Bado A, Beaumont C. Intestinal<br />

DMT1 cotransporter is down-regulated by hepcidin via proteasome internalization<br />

<strong>and</strong> degradation. Gastroenterology. 2011; 140:1261-1271 e1261. PMID:<br />

21199652<br />

Jeong SY, Crooks DR, Wilson-Ollivierre H, et al. <strong>Iron</strong> insufficiency compromises<br />

motor neurons <strong>and</strong> their mitochondrial function in Irp2-null mice. PLoS One.<br />

2011; 6:e25404. PMID: 22003390<br />

Camaschella, C<br />

(selected publications within the <strong>SWG</strong> 2011-<strong>2012</strong>)<br />

De Falco L, Sanchez M, Silvestri L, Kannengiesser C, Muckenthaler MU, Iolascon<br />

A, Gouya L, Camaschella C, Beaumont C. <strong>Iron</strong> Refractory <strong>Iron</strong> Deficiency<br />

Anemia: a review. Haematologica (under revision).<br />

De Falco L, Bruno M, Andolfo I, David BP, Girelli D, Di Noce F, Camaschella C,<br />

Iolascon A. Identification <strong>and</strong> characterization of the first SLC11A2 isoform 1a<br />

mutation causing a defect in splicing process <strong>and</strong> an hypomorphic allele<br />

expression of the SLC11A2 gene. Br J Haematol. <strong>2012</strong> Nov;159(4):492-5.<br />

De Franceschi L, Bertoldi M, De Falco L, Santos Franco S, Ronzoni L, Turrini F,<br />

Colancecco A, Camaschella C, Cappellini MD, Iolascon A. Oxidative stress<br />

modulates heme synthesis <strong>and</strong> induces peroxiredoxin-2 as a novel cytoprotective<br />

response in β-thalassemic erythropoiesis. Haematologica. 2011<br />

Nov;96(11):1595-604.<br />

Cappellini, (Downloaded from internet)<br />

How I treat transfusional iron overload. Hoffbr<strong>and</strong> AV, Taher A, Cappellini MD.<br />

Blood. <strong>2012</strong> Aug 23. (Epub ahead of print)<br />

An update on iron chelation therapy. Poggiali E, Cassinerio E, Zanaboni L,<br />

Cappellini MD. Blood Transfus. <strong>2012</strong> Jun 27:1-12.<br />

Seven novel genetic mutations within the 5'UTR <strong>and</strong> the housekeeping promoter<br />

of HMBS gene responsible for the non-erythroid form of acute intermittent<br />

porphyria. Brancaleoni V, Granata F, Colancecco A, Tavazzi D, Cappellini MD, Di<br />

Pierro E. Blood <strong>Cells</strong> Mol Dis. <strong>2012</strong> Jun 29<br />

Characteristics of type I Gaucher disease associated with persistent<br />

thrombocytopenia after treatment with imiglucerase for 4-5 years. Hollak CE,<br />

Belmatoug N, Cole JA, Vom Dahl S, Deegan PB, Goldblatt J, Rosenbloom B, van<br />

Dussen L, Tylki-Szymańska A, Weinreb NJ, Zimran A, Cappellini MD. Br J<br />

Haematol. <strong>2012</strong> Aug;158(4):528-38.<br />

Contemporary approaches to treatment of beta-thalassemia intermedia. Taher<br />

AT, Musallam KM, Karimi M, Cappellini MD. Blood Rev. <strong>2012</strong> Apr;26 Suppl<br />

1:S24-7.<br />

Deferasirox reduces iron overload significantly in nontransfusion-dependent<br />

thalassemia: 1-year results from a prospective, r<strong>and</strong>omized, double-blind,<br />

placebo-controlled study. Taher AT, Porter J, Viprakasit V, Kattamis A,<br />

Chuncharunee S, Sutcharitchan P, Siritanaratkul N, Galanello R, Karakas Z,<br />

Lawniczek T, Ros J, Zhang Y, Habr D, Cappellini MD. Blood. <strong>2012</strong> Aug<br />

2;120(5):970-7. 2 -<br />

Cardiac iron removal <strong>and</strong> functional cardiac improvement by different iron<br />

chelation regimens in thalassemia major patients.Cassinerio E, Roghi A, Pedrotti

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