相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Coordinated mis-splicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome
Courtnee A Clough et al.
BLOOD (2021)
Development of luspatercept to treat ineffective erythropoiesis
Anne Sophie Kubasch et al.
BLOOD ADVANCES (2021)
SnapShot: Splicing Alterations in Cancer
Mohammad Alinoor Rahman et al.
CELL (2020)
RNA Splicing Alterations Induce a Cellular Stress Response Associated with Poor Prognosis in Acute Myeloid Leukemia
Govardhan Anande et al.
CLINICAL CANCER RESEARCH (2020)
Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes
Pierre Fenaux et al.
NEW ENGLAND JOURNAL OF MEDICINE (2020)
SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS
Luca Malcovati et al.
BLOOD (2020)
Human Cancer-Associated Mutations of SF3B1 Lead to a Splicing Modification of Its Own RNA
Tiffany Bergot et al.
CANCERS (2020)
Roles and mechanisms of alternative splicing in cancer - implications for care
Sophie C. Bonnal et al.
NATURE REVIEWS CLINICAL ONCOLOGY (2020)
Therapy for lower-risk MDS
Hetty E. Carraway et al.
HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM (2020)
Inborn errors of coenzyme A metabolism and neurodegeneration
Ivano Di Meo et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Mutations in spliceosome genes and therapeutic opportunities in myeloid malignancies
Justin Taylor et al.
GENES CHROMOSOMES & CANCER (2019)
A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome
Sabrina Bondu et al.
SCIENCE TRANSLATIONAL MEDICINE (2019)
Hotspot SF3B1 mutations induce metabolic reprogramming and vulnerability to serine deprivation
W. Brian Dalton et al.
JOURNAL OF CLINICAL INVESTIGATION (2019)
Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations
Andrea Pellagatti et al.
BLOOD (2018)
Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types
Michael Seiler et al.
CELL REPORTS (2018)
Universal Alternative Splicing of Noncoding Exons
Ira W. Deveson et al.
CELL SYSTEMS (2018)
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
Tessa van Dijk et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia
Yusuke Shiozawa et al.
NATURE COMMUNICATIONS (2018)
Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts
A. Mupo et al.
LEUKEMIA (2017)
Preclinical modeling of myelodysplastic syndromes
K. Rouault-Pierre et al.
LEUKEMIA (2017)
A three-minute method for high-throughput quantitative metabolomics and quantitative tracing experiments of central carbon and nitrogen pathways
Travis Nemkov et al.
RAPID COMMUNICATIONS IN MASS SPECTROMETRY (2017)
Lenalidomide with or without erythropoietin in transfusion-dependent erythropoiesis-stimulating agent-refractory lower-risk MDS without 5q deletion
A. Toma et al.
LEUKEMIA (2016)
Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration
Daniel I. Orellana et al.
EMBO MOLECULAR MEDICINE (2016)
Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes
H. Dolatshad et al.
LEUKEMIA (2016)
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome
Zhantao Yang et al.
SCIENCE TRANSLATIONAL MEDICINE (2016)
SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartment
Syed A. Mian et al.
NATURE COMMUNICATIONS (2015)
Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point
Rachel B. Darman et al.
CELL REPORTS (2015)
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
Sabrina Dusi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Transforming growth factor-β superfamily ligand trap ACE-536 corrects anemia by promoting late-stage erythropoiesis
Rajasekhar N. V. S. Suragani et al.
NATURE MEDICINE (2014)
rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data
Shihao Shen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
A Randomized, Double-Blind, Placebo-Controlled Study of a Novel Pantothenic Acid-Based Dietary Supplement in Subjects with Mild to Moderate Facial Acne
Michael Yang et al.
DERMATOLOGY AND THERAPY (2014)
Long-term outcome of anemic lower-risk myelodysplastic syndromes without 5q deletion refractory to or relapsing after erythropoiesis-stimulating agents
C. Kelaidi et al.
LEUKEMIA (2013)
Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms
Luca Malcovati et al.
BLOOD (2011)
Over-expression of mitochondrial ferritin affects the JAK2/STAT5 pathway in K562 cells and causes mitochondrial iron accumulation
Paolo Santambrogio et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)
Ring sideroblasts and sideroblastic anemias
Mario Cazzola et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)
Frequent pathway mutations of splicing machinery in myelodysplasia
Kenichi Yoshida et al.
NATURE (2011)
Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
E. Papaemmanuil et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Treatment of myelodysplastic syndrome patients with erythropoietin with or without granulocyte colony-stimulating factor: results of a prospective randomized phase 3 trial by the Eastern Cooperative Oncology Group (E1996)
Peter L. Greenberg et al.
BLOOD (2009)
Red blood cell transfusions and iron overload in the treatment of patients with myelodysplastic syndromes
Elias Jabbour et al.
CANCER (2008)
Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
Qun Pan et al.
NATURE GENETICS (2008)
Splicing in disease: disruption of the splicing code and the decoding machinery
Guey-Shin Wang et al.
NATURE REVIEWS GENETICS (2007)
Distribution of hematopoietic stem cells in the bone marrow according to regional hypoxia
Kalindi Parmar et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Aberrant mitochondrial iron distribution and maturation arrest characterize early erythroid precursors in low-risk myelodysplastic syndromes
R Tehranchi et al.
BLOOD (2005)
Coenzyme A: Back in action
R Leonardi et al.
PROGRESS IN LIPID RESEARCH (2005)