Epigenetic inactivation of ERF reactivates γ-globin expression in β-thalassemia

Reactivation of γ-globin expression through Cas9 or base editor to treat β-hemoglobinopathies

(2020) Liren Wang et al.   CELL RESEARCH

Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation

(2020) Anindita Basak et al.   NATURE GENETICS

A natural regulatory mutation in the proximal promoter elevates fetal globin expression by creating a de novo GATA1 site

(2019) Gabriella E. Martyn et al.   BLOOD

Highly efficient therapeutic gene editing of human hematopoietic stem cells

(2019) Yuxuan Wu et al.   NATURE MEDICINE

Therapeutically relevant engraftment of a CRISPR-Cas9–edited HSC-enriched population with HbF reactivation in nonhuman primates

(2019) Olivier Humbert et al.   Science Translational Medicine

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

(2018) Nan Liu et al.   CELL

Molecular Basis and Genetic Modifiers of Thalassemia

(2018) Sachith Mettananda et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

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

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

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

(2018) Jeremy D. Grevet et al.   SCIENCE

BloodSpot: a database of healthy and malignant haematopoiesis updated with purified and single cell mRNA sequencing profiles

(2018) Frederik Otzen Bagger et al.   NUCLEIC ACIDS RESEARCH

Wake-up Sleepy Gene: Reactivating Fetal Globin for β-Hemoglobinopathies

(2018) Beeke Wienert et al.   TRENDS IN GENETICS

The Ets2 Repressor Factor (Erf) Is Required for Effective Primitive and Definitive Hematopoiesis

(2017) Ioanna Peraki et al.   MOLECULAR AND CELLULAR BIOLOGY

The Encyclopedia of DNA elements (ENCODE): data portal update

(2017) Carrie A Davis et al.   NUCLEIC ACIDS RESEARCH

The intrinsic genetic and epigenetic regulator factors as therapeutic targets, and the effect on fetal globin gene expression

(2017) Pegah Adelvand et al.   Expert Review of Hematology

Targeted DNA methylation in vivo using an engineered dCas9-MQ1 fusion protein

(2017) Yong Lei et al.   Nature Communications

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene

(2016) M Balasubramanian et al.   JOURNAL OF MEDICAL GENETICS

A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition

(2016) Elizabeth A Traxler et al.   NATURE MEDICINE

Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin

(2016) T. Masuda et al.   SCIENCE

Fetal hemoglobin regulation in β-thalassemia: heterogeneity, modifiers and therapeutic approaches

(2016) Orapan Sripichai et al.   Expert Review of Hematology

EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression

(2015) A. Renneville et al.   BLOOD

Chemically modified guide RNAs enhance CRISPR-Cas genome editing in human primary cells

(2015) Ayal Hendel et al.   NATURE BIOTECHNOLOGY

Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin

(2015) Beeke Wienert et al.   Nature Communications

miR-150 inhibits terminal erythroid proliferation and differentiation

(2015) Zhiwei Sun et al.   Oncotarget

Nonirradiated NOD,B6.SCID Il2rγ−/− KitW41/W41 (NBSGW) Mice Support Multilineage Engraftment of Human Hematopoietic Cells

(2015) Brian E. McIntosh et al.   Stem Cell Reports

Role of the clathrin adaptor PICALM in normal hematopoiesis and polycythemia vera pathophysiology

(2015) Y. Ishikawa et al.   HAEMATOLOGICA

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of  -thalassemia

(2014) D. Liu et al.   BLOOD

Isolation and transcriptome analyses of human erythroid progenitors: BFU-E and CFU-E

(2014) J. Li et al.   BLOOD

Guidelines for Diagnosis and Management of Beta-Thalassemia Intermedia

(2014) Mehran Karimi et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

Transcriptional regulators Myb and BCL11A interplay with DNA methyltransferase 1 in developmental silencing of embryonic and fetal β-like globin genes

(2013) Mark Roosjen et al.   FASEB JOURNAL

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

(2013) Ryo Kurita et al.   PLoS One

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Epigenome-wide association studies for common human diseases

(2011) Vardhman K. Rakyan et al.   NATURE REVIEWS GENETICS

p66 -MBD2 coiled-coil interaction and recruitment of Mi-2 are critical for globin gene silencing by the MBD2-NuRD complex

(2011) M. N. Gnanapragasam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Beta-thalassemia

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

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

Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific RepressorBCL11A

(2008) Vijay G. Sankaran et al.   SCIENCE