Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron

SF3B1 mutations are infrequently found in non-myelodysplastic bone marrow failure syndromes and mast cell diseases but, if present, are associated with the ring sideroblast phenotype

(2013) V. Visconte et al.   HAEMATOLOGICA

Impact of molecular mutations on treatment response to DNMT inhibitors in myelodysplasia and related neoplasms

(2013) F Traina et al.   LEUKEMIA

Identifying differentially expressed transcripts from RNA-seq data with biological variation

(2012) Peter Glaus et al.   BIOINFORMATICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

SF3B1 and the riddle of the ring sideroblast

(2012) N. Gattermann   BLOOD

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

(2012) V. Visconte et al.   BLOOD

Emerging roles of the spliceosomal machinery in myelodysplastic syndromes and other hematological disorders

(2012) V Visconte et al.   LEUKEMIA

The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts

(2012) M Nikpour et al.   LEUKEMIA

Oxidation state and chemical shift investigation in transition metal oxides by EELS

(2012) Haiyan Tan et al.   ULTRAMICROSCOPY

A highly selective turn-on fluorescent probe for iron(ii) to visualize labile iron in living cells

(2012) Tasuku Hirayama et al.   Chemical Science

Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria

(2011) Yongming Wang et al.   EXPERIMENTAL HEMATOLOGY

Ring sideroblasts and sideroblastic anemias

(2011) M. Cazzola et al.   HAEMATOLOGICA

Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13)

(2011) Kazuya Sato et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts

(2011) V Visconte et al.   LEUKEMIA

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

(2011) E. Papaemmanuil et al.   NEW ENGLAND JOURNAL OF MEDICINE

From RNA-seq reads to differential expression results

(2011) Alicia Oshlack et al.   GENOME BIOLOGY

Frataxin, a molecule of mystery: trading stability for function in its iron-binding site: Figure 1

(2010) Darius J. R. Lane et al.   BIOCHEMICAL JOURNAL

Ferrochelatase forms an oligomeric complex with mitoferrin-1 and Abcb10 for erythroid heme biosynthesis

(2010) W. Chen et al.   BLOOD

Energy-dispersive X-ray Analysis of the Mitochondria of Sideroblastic Anaemia

(2010) Joseph A. Grasso et al.   BRITISH JOURNAL OF HAEMATOLOGY

Gene ontology analysis for RNA-seq: accounting for selection bias

(2010) Matthew D Young et al.   GENOME BIOLOGY

Abcb10 physically interacts with mitoferrin-1 (Slc25a37) to enhance its stability and function in the erythroid mitochondria

(2009) W. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Congenital sideroblastic anemia associated with germline polymorphisms reducing expression of FECH

(2008) J. S. Caudill et al.   HAEMATOLOGICA

Regulation of Mitochondrial Iron Import through Differential Turnover of Mitoferrin 1 and Mitoferrin 2

(2008) P. N. Paradkar et al.   MOLECULAR AND CELLULAR BIOLOGY

Mapping and quantifying mammalian transcriptomes by RNA-Seq

(2008) Ali Mortazavi et al.   NATURE METHODS

The Role of the Iron Transporter ABCB7 in Refractory Anemia with Ring Sideroblasts

(2008) Jacqueline Boultwood et al.   PLoS One