Omics Studies in Hemoglobinopathies

Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch

(2018) Nan Liu et al.   CELL

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

(2018) Katharina Schwarze et al.   GENETICS IN MEDICINE

Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding

(2018) Gabriella E. Martyn et al.   NATURE GENETICS

Integrative omics for health and disease

(2018) Konrad J. Karczewski et al.   NATURE REVIEWS GENETICS

Domain-focused CRISPR screen identifies HRI as a fetal hemoglobin regulator in human erythroid cells

(2018) Jeremy D. Grevet et al.   SCIENCE

Genetic therapies for sickle cell disease

(2018) Erica B. Esrick et al.   SEMINARS IN HEMATOLOGY

Impaired acylcarnitine profile in transfusion-dependent beta-thalassemia major patients in Bangladesh

(2018) Suprovath Kumar Sarker et al.   Journal of Advanced Research

Hydroxyurea Treated β-Thalassemia Children Demonstrate a Shift in Metabolism Towards Healthy Pattern

(2018) Ayesha Iqbal et al.   Scientific Reports

Disruption of the BCL11A Erythroid Enhancer Reactivates Fetal Hemoglobin in Erythroid Cells of Patients with β-Thalassemia Major

(2018) Nikoletta Psatha et al.   Molecular Therapy-Methods & Clinical Development

Integrating omics datasets with the OmicsPLS package

(2018) Said el Bouhaddani et al.   BMC BIOINFORMATICS

Genetic Modifiers of Fetal Haemoglobin (HbF) and Phenotypic Severity in β-Thalassemia Patients

(2018) S.A.A. Razak et al.   CURRENT MOLECULAR MEDICINE

Pharmacological and molecular approaches for the treatment of β-hemoglobin disorders

(2017) Neelam Lohani et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Gene Therapy for β-Hemoglobinopathies

(2017) Marina Cavazzana et al.   MOLECULAR THERAPY

Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci

(2017) Matthew C Canver et al.   NATURE GENETICS

An enhancer haplotype may influence BCL11A expression levels and the response to hydroxyurea in β-thalassemia patients

(2017) Nahal Maroofi et al.   PHARMACOGENOMICS

β-Thalassemia Patients Revealed a Significant Change of Untargeted Metabolites in Comparison to Healthy Individuals

(2017) Syed Ghulam Musharraf et al.   Scientific Reports

Recent advances in globin research using genome-wide association studies and gene editing

(2016) Stuart H. Orkin   Annals of the New York Academy of Sciences

Customizing the genome as therapy for the β-hemoglobinopathies

(2016) Matthew C. Canver et al.   BLOOD

Featured Article: Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian δβ-thalassemia, by BCL11A and SOX6-targeting microRNAs

(2016) Thais A Fornari et al.   EXPERIMENTAL BIOLOGY AND MEDICINE

Hemoglobin genetics: recent contributions of GWAS and gene editing

(2016) Elenoe C. Smith et al.   HUMAN MOLECULAR GENETICS

Lineage-specific BCL11A knockdown circumvents toxicities and reverses sickle phenotype

(2016) Christian Brendel et al.   JOURNAL OF CLINICAL INVESTIGATION

A validated cellular biobank for β-thalassemia

(2016) Lucia Carmela Cosenza et al.   Journal of Translational Medicine

Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin

(2016) T. Masuda et al.   SCIENCE

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment

(2015) A. P. W. Funnell et al.   BLOOD

EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression

(2015) A. Renneville et al.   BLOOD

Impact of epigenetic mechanisms on therapeutic approaches of hemoglobinopathies

(2015) Dario Costa et al.   BLOOD CELLS MOLECULES AND DISEASES

BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia

(2015) P. Sebastiani et al.   BLOOD CELLS MOLECULES AND DISEASES

Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders

(2015) H. Stranneheim et al.   JOURNAL OF INTERNAL MEDICINE

Integrative Proteome and Transcriptome Analysis of Extramedullary Erythropoiesis and Its Reversal by Transferrin Treatment in a Mouse Model of Beta-Thalassemia

(2015) Florence Vallelian et al.   JOURNAL OF PROTEOME RESEARCH

BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis

(2015) Matthew C. Canver et al.   NATURE

Functional footprinting of regulatory DNA

(2015) Jeff Vierstra et al.   NATURE METHODS

Association between Variants atBCL11AErythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions

(2015) Gift Dineo Pule et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Increase of microRNA-210, Decrease of Raptor Gene Expression and Alteration of Mammalian Target of Rapamycin Regulated Proteins following Mithramycin Treatment of Human Erythroid Cells

(2015) Nicoletta Bianchi et al.   PLoS One

Epigenomics in Translational Research

(2015) Joseph M. Replogle et al.   Translational Research

Epigenetic regulation of fetal globin gene expression in adult erythroid cells

(2015) Gordon D. Ginder   Translational Research

Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015: elaboration and explanation

(2015) L. Shamseer et al.   BMJ-British Medical Journal

Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015: elaboration and explanation

(2015) L. Shamseer et al.   BMJ-British Medical Journal

Developmental transcriptome analysis of human erythropoiesis

(2014) L. Shi et al.   HUMAN MOLECULAR GENETICS

HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers

(2014) Ralph Stadhouders et al.   JOURNAL OF CLINICAL INVESTIGATION

LIN28B-mediated expression of fetal hemoglobin and production of fetal-like erythrocytes from adult human erythroblasts ex vivo

(2013) Y. T. Lee et al.   BLOOD

The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background

(2013) Maryam Neishabury et al.   BLOOD CELLS MOLECULES AND DISEASES

A Feedback Loop Consisting of MicroRNA 23a/27a and the  -Like Globin Suppressors KLF3 and SP1 Regulates Globin Gene Expression

(2013) Y. Ma et al.   MOLECULAR AND CELLULAR BIOLOGY

Lysine-specific demethylase 1 is a therapeutic target for fetal hemoglobin induction

(2013) Lihong Shi et al.   NATURE MEDICINE

Transposition of native chromatin for fast and sensitive epigenomic profiling of open chromatin, DNA-binding proteins and nucleosome position

(2013) Jason D Buenrostro et al.   NATURE METHODS

Establishment of Immortalized Human Erythroid Progenitor Cell Lines Able to Produce Enucleated Red Blood Cells

(2013) Ryo Kurita et al.   PLoS One

MicroRNA-486-3p Regulates γ-Globin Expression in Human Erythroid Cells by Directly Modulating BCL11A

(2013) Valentina Lulli et al.   PLoS One

Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A

(2013) J. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

(2013) D. E. Bauer et al.   SCIENCE

World Distribution, Population Genetics, and Health Burden of the Hemoglobinopathies

(2013) T. N. Williams et al.   Cold Spring Harbor Perspectives in Medicine

Reawakening fetal hemoglobin: prospects for new therapies for the  -globin disorders

(2012) D. E. Bauer et al.   BLOOD

Hydroxyurea responsiveness in  -thalassemic patients is determined by the stress response adaptation of erythroid progenitors and their differentiation propensity

(2012) F. Pourfarzad et al.   HAEMATOLOGICA

Hypermethylation of the gene LARP2 for noninvasive prenatal diagnosis of β-thalassemia based on DNA methylation profile

(2012) Tian Gao et al.   MOLECULAR BIOLOGY REPORTS

KLF10gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients

(2012) Joseph Borg et al.   PHARMACOGENOMICS

Therapeutic Hemoglobin Levels after Gene Transfer in β-Thalassemia Mice and in Hematopoietic Cells of β-Thalassemia and Sickle Cells Disease Patients

(2012) Laura Breda et al.   PLoS One

Involvement of miRNA in erythroid differentiation

(2012) Nicoletta Bianchi et al.   Epigenomics

The NIH Roadmap Epigenomics Program data resource

(2012) Lisa Helbling Chadwick   Epigenomics

A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression

(2011) J. J. Farrell et al.   BLOOD

Increased oxidative metabolism is associated with erythroid precursor expansion in β0-thalassaemia/Hb E disease

(2011) Amporn Leecharoenkiat et al.   BLOOD CELLS MOLECULES AND DISEASES

Expression of miR-210 during erythroid differentiation and induction of γ-globin gene expression

(2011) Nicoletta Bianchi et al.   BMB Reports

Genotype–phenotype relationship of patients with β-thalassemia taking hydroxyurea: a 13-year experience in Iran

(2011) Mehran Karimi et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Phosphoproteomic analysis of apoptotic hematopoietic stem cells from hemoglobin E/β-thalassemia

(2011) Saranyoo Ponnikorn et al.   Journal of Translational Medicine

A Small-Molecule Inhibitor of BCL6 Kills DLBCL Cells In Vitro and In Vivo

(2010) Leandro C. Cerchietti et al.   CANCER CELL

Update on fetal hemoglobin gene regulation in hemoglobinopathies

(2010) Daniel E Bauer et al.   CURRENT OPINION IN PEDIATRICS

Correction of β-thalassemia major by gene transfer in haematopoietic progenitors of pediatric patients

(2010) Emanuela Anna Roselli et al.   EMBO Molecular Medicine

Beta-thalassemia

(2010) Antonio Cao et al.   GENETICS IN MEDICINE

Histone Deacetylase 9 Activates γ-Globin Gene Expression in Primary Erythroid Cells

(2010) Shalini A. Muralidhar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Effect of hydroxyurea on the transfusion requirements in patients with severe HbE- -thalassaemia: a genotypic and phenotypic study

(2010) K. Y. Italia et al.   JOURNAL OF CLINICAL PATHOLOGY

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

(2010) Joseph Borg et al.   NATURE GENETICS

KLF1 regulates BCL11A expression and γ- to β-globin gene switching

(2010) Dewang Zhou et al.   NATURE GENETICS

Beta-thalassemia

(2010) Renzo Galanello et al.   Orphanet Journal of Rare Diseases

Discovering the genetics underlying foetal haemoglobin production in adults

(2009) Swee Lay Thein et al.   BRITISH JOURNAL OF HAEMATOLOGY

Ineffective erythropoiesis and thalassemias

(2009) Stefano Rivella   CURRENT OPINION IN HEMATOLOGY

Association of   globin gene quadruplication and heterozygous   thalassemia in patients with thalassemia intermedia

(2009) M. C. Sollaino et al.   HAEMATOLOGICA

Genetic Variation on Chromosome 6 Influences F Cell Levels in Healthy Individuals of African Descent and HbF Levels in Sickle Cell Patients

(2009) Lisa E. Creary et al.   PLoS One

Glutathione S-transferase gene polymorphism and cardiac iron overload in thalassaemia major

(2008) R. Origa et al.   BRITISH JOURNAL OF HAEMATOLOGY

Cholelithiasis in thalassemia major

(2008) Raffaella Origa et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Structure of a BCOR Corepressor Peptide in Complex with the BCL6 BTB Domain Dimer

(2008) Alexandru F. Ghetu et al.   MOLECULAR CELL

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of  -thalassemia

(2008) M. Uda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA polymorphisms at the BCL11A, HBS1L-MYB, and  -globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

(2008) G. Lettre et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA