Erythro-megakaryocytic transcription factors associated with hereditary anemia

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

(2014) V. Viprakasit et al.   BLOOD

Applications of high-throughput DNA sequencing to benign hematology

(2013) V. G. Sankaran et al.   BLOOD

Congenital dyserythropoietic anemias: molecular insights and diagnostic approach

(2013) A. Iolascon et al.   BLOOD

Analysis of disease-causing GATA1 mutations in murine gene complementation systems

(2013) A. E. Campbell et al.   BLOOD

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

Integrating and mining the chromatin landscape of cell-type specificity using self-organizing maps

(2013) A. Mortazavi et al.   GENOME RESEARCH

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

(2013) C. Babbs et al.   HAEMATOLOGICA

Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia

(2013) K. Kaneko et al.   HAEMATOLOGICA

MPN patients harbor recurrent truncating mutations in transcription factor NF-E2

(2013) Jonas S. Jutzi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

GFI1Bmutation causes a bleeding disorder with abnormal platelet function

(2013) W. S. Stevenson et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

(2013) Davide Monteferrario et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2013) D. E. Bauer et al.   SCIENCE

ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering

(2013) Thomas Gaj et al.   TRENDS IN BIOTECHNOLOGY

Ldb1 complexes: the new master regulators of erythroid gene transcription

(2013) Paul E. Love et al.   TRENDS IN GENETICS

The Switch from Fetal to Adult Hemoglobin

(2013) V. G. Sankaran et al.   Cold Spring Harbor Perspectives in Medicine

The Molecular Basis of  -Thalassemia

(2013) S. L. Thein   Cold Spring Harbor Perspectives in Medicine

Elevated Nuclear Factor Erythroid-2 Levels Promote Epo-Independent Erythroid Maturation and Recapitulate the Hematopoietic Stem Cell and Common Myeloid Progenitor Expansion Observed in Polycythemia Vera Patients

(2013) Ruzhica Bogeska et al.   Stem Cells Translational Medicine

A novelGATA1mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia

(2012) Belinda K. Singleton et al.   BRITISH JOURNAL OF HAEMATOLOGY

Blood group phenotypes resulting from mutations in erythroid transcription factors

(2012) Belinda K. Singleton et al.   CURRENT OPINION IN HEMATOLOGY

Combinatorial regulation of tissue specification by GATA and FOG factors

(2012) T. M. Chlon et al.   DEVELOPMENT

Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply

(2012) Katrine Ask et al.   EMBO JOURNAL

Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number

(2012) V. G. Sankaran et al.   GENES & DEVELOPMENT

Novel roles for KLF1 in erythropoiesis revealed by mRNA-seq

(2012) M. R. Tallack et al.   GENOME RESEARCH

What’s in a name?

(2012) Mitchell J. Weiss et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

(2012) Vijay G. Sankaran et al.   JOURNAL OF CLINICAL INVESTIGATION

A novel murine model of myeloproliferative disorders generated by overexpression of the transcription factor NF-E2

(2012) Kai B. Kaufmann et al.   JOURNAL OF EXPERIMENTAL MEDICINE

EKLF/KLF1, a Tissue-Restricted Integrator of Transcriptional Control, Chromatin Remodeling, and Lineage Determination

(2012) Y. Y. Yien et al.   MOLECULAR AND CELLULAR BIOLOGY

Seventy-five genetic loci influencing the human red blood cell

(2012) Pim van der Harst et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignancies

(2012) E. H. Bresnick et al.   NUCLEIC ACIDS RESEARCH

SEC23B is required for the maintenance of murine professional secretory tissues

(2012) J. Tao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A core erythroid transcriptional network is repressed by a master regulator of myelo-lymphoid differentiation

(2012) S. N. Wontakal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1  localization in erythroblasts

(2011) R. Renella et al.   BLOOD

Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes

(2011) B. K. Singleton et al.   BLOOD

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

(2011) A. P. Hsu et al.   BLOOD

The role of the GATA2 transcription factor in normal and malignant hematopoiesis

(2011) Carmen Vicente et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

(2011) Pia Ostergaard et al.   NATURE GENETICS

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

(2011) Christopher N Hahn et al.   NATURE GENETICS

Correction of Sickle Cell Disease in Adult Mice by Interference with Fetal Hemoglobin Silencing

(2011) J. Xu et al.   SCIENCE

A User's Guide to the Encyclopedia of DNA Elements (ENCODE)

(2011)   PLOS BIOLOGY

A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

(2010) Lionel Arnaud et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Therapeutic levels of fetal hemoglobin in erythroid progeny of  -thalassemic CD34+ cells after lentiviral vector-mediated gene transfer

(2010) A. Wilber et al.   BLOOD

Gfi-1B controls human erythroid and megakaryocytic differentiation by regulating TGF-  signaling at the bipotent erythro-megakaryocytic progenitor stage

(2010) V. Randrianarison-Huetz et al.   BLOOD

Gfi1–cells and circuits: unraveling transcriptional networks of development and disease

(2010) James D Phelan et al.   CURRENT OPINION IN HEMATOLOGY

Mutation in erythroid specific transcription factor KLF1 causes Hereditary Spherocytosis in the Nan hemolytic anemia mouse model

(2010) Daniel P. Heruth et al.   GENOMICS

Gfi1 and Gfi1b: key regulators of hematopoiesis

(2010) L T van der Meer et al.   LEUKEMIA

EKLF Directly Activates the p21 WAF1/CIP1 Gene by Proximal Promoter and Novel Intronic Regulatory Regions during Erythroid Differentiation

(2010) Miroslawa Siatecka et al.   MOLECULAR AND CELLULAR BIOLOGY

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

Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor

(2010) M. Siatecka et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Single cis Element Maintains Repression of the Key Developmental Regulator Gata2

(2010) Jonathan W. Snow et al.   PLoS Genetics

Discovering the genetics underlying foetal haemoglobin production in adults

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

Erythroid GATA1 function revealed by genome-wide analysis of transcription factor occupancy, histone modifications, and mRNA expression

(2009) Y. Cheng et al.   GENOME RESEARCH

Discovering Hematopoietic Mechanisms through Genome-wide Analysis of GATA Factor Chromatin Occupancy

(2009) Tohru Fujiwara et al.   MOLECULAR CELL

Insights into GATA-1-Mediated Gene Activation versus Repression via Genome-wide Chromatin Occupancy Analysis

(2009) Ming Yu et al.   MOLECULAR CELL

Developmental and species-divergent globin switching are driven by BCL11A

(2009) Vijay G. Sankaran et al.   NATURE

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

(2009) Klaus Schwarz et al.   NATURE GENETICS

EKLF restricts megakaryocytic differentiation at the benefit of erythrocytic differentiation

(2008) F. Bouilloux et al.   BLOOD

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype

(2008) B. K. Singleton et al.   BLOOD

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

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

(2008) Vijay G. Sankaran et al.   SCIENCE

Revealing the architecture of gene regulation: the promise of eQTL studies

(2008) Yoav Gilad et al.   TRENDS IN GENETICS