GATA1 mutations in red cell disorders

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

(2019) Nour J. Abdulhay et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Deubiquitylase USP7 regulates human terminal erythroid differentiation by stabilizing GATA1

(2019) Long Liang et al.   HAEMATOLOGICA

Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1

(2019) Sarah Rio et al.   BLOOD

Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis

(2019) Leif S. Ludwig et al.   Cell Reports

Chromatin occupancy and epigenetic analysis reveal new insights into the function of GATA1 N-terminus in erythropoiesis

(2019) Te Ling et al.   BLOOD

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

(2018) Rajiv K. Khajuria et al.   CELL

Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 translation

(2018) Vijaykumar Chennupati et al.   JOURNAL OF CLINICAL INVESTIGATION

The Genetic Landscape of Diamond-Blackfan Anemia

(2018) Jacob C. Ulirsch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Single cell analyses demonstrate that a heme - GATA1 feedback loop regulates red cell differentiation

(2018) Raymond T. Doty et al.   BLOOD

Small and Large Ribosomal Subunit Deficiencies Lead to Distinct Gene Expression Signatures that Reflect Cellular Growth Rate

(2018) Ze Cheng et al.   MOLECULAR CELL

Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits

(2016) Jacob C. Ulirsch et al.   CELL

Distinct myeloid progenitor–differentiation pathways identified through single-cell RNA sequencing

(2016) Roy Drissen et al.   NATURE IMMUNOLOGY

Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation

(2016) Yingchi Zhang et al.   NUCLEIC ACIDS RESEARCH

Insight into GATA1 transcriptional activity through interrogation ofciselements disrupted in human erythroid disorders

(2016) Aoi Wakabayashi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

X-linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: Comparisons with primary myelofibrosis

(2015) Maria Åström et al.   AMERICAN JOURNAL OF HEMATOLOGY

Mechanism governing heme synthesis reveals a GATA factor/heme circuit that controls differentiation

(2015) Nobuyuki Tanimura et al.   EMBO REPORTS

The heme exporter Flvcr1 regulates expansion and differentiation of committed erythroid progenitors by controlling intracellular heme accumulation

(2015) S. Mercurio et al.   HAEMATOLOGICA

Global transcriptome and chromatin occupancy analysis reveal the short isoform of GATA1 is deficient for erythroid specification and gene expression

(2015) T. M. Chlon et al.   HAEMATOLOGICA

Pluripotent stem cells reveal erythroid-specific activities of the GATA1 N-terminus

(2015) Marta Byrska-Bishop et al.   JOURNAL OF CLINICAL INVESTIGATION

Developmental Control of Polycomb Subunit Composition by GATA Factors Mediates a Switch to Non-Canonical Functions

(2015) Jian Xu et al.   MOLECULAR CELL

A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5′UTRGATA1sSplice Mutation

(2015) Jacob Zucker et al.   PEDIATRIC BLOOD & CANCER

Distinct routes of lineage development reshape the human blood hierarchy across ontogeny

(2015) F. Notta et al.   SCIENCE

The heme exporter Flvcr1 regulates expansion and differentiation of committed erythroid progenitors by controlling intracellular heme accumulation

(2015) S. Mercurio et al.   HAEMATOLOGICA

Global transcriptome and chromatin occupancy analysis reveal the short isoform of GATA1 is deficient for erythroid specification and gene expression

(2015) T. M. Chlon et al.   HAEMATOLOGICA

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

(2014)   AMERICAN JOURNAL OF HEMATOLOGY

RecurrentGATA1mutations in Diamond-Blackfan anaemia

(2014) Joakim Klar et al.   BRITISH JOURNAL OF HAEMATOLOGY

Altered translation of GATA1 in Diamond-Blackfan anemia

(2014) Leif S Ludwig et al.   NATURE MEDICINE

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

(2014) Sara Parrella et al.   PEDIATRIC BLOOD & CANCER

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

Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems

(2013) Cedric Hermans et al.   PLATELETS

GATA-1 regulates the generation and function of basophils

(2013) Y. Nei et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

N- and C-terminal Transactivation Domains of GATA1 Protein Coordinate Hematopoietic Program

(2012) Hiroshi Kaneko et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

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

GATA-1 Utilizes Ikaros and Polycomb Repressive Complex 2 To Suppress Hes1 and To Promote Erythropoiesis

(2012) J. Ross et al.   MOLECULAR AND CELLULAR BIOLOGY

Cofactor-Mediated Restriction of GATA-1 Chromatin Occupancy Coordinates Lineage-Specific Gene Expression

(2012) Timothy M. Chlon et al.   MOLECULAR CELL

Seventy-five genetic loci influencing the human red blood cell

(2012) Pim van der Harst et al.   NATURE

Structural basis of simultaneous recruitment of the transcriptional regulators LMO2 and FOG1/ZFPM1 by the transcription factor GATA1

(2011) L. Wilkinson-White et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells

(2010) S. Dutt et al.   BLOOD

The ribosomal basis of diamond-blackfan anemia: mutation and database update

(2010) Ilenia Boria et al.   HUMAN MUTATION

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

(2009) Y. Cheng et al.   GENOME RESEARCH

Loss of theGata1Gene IE Exon Leads to Variant Transcript Expression and the Production of a GATA1 Protein Lacking the N-terminal Domain

(2009) Eri Kobayashi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2009) Ming Yu et al.   MOLECULAR CELL

Direct Binding of pRb/E2F-2 to GATA-1 Regulates Maturation and Terminal Cell Division during Erythropoiesis

(2009) Zahra Kadri et al.   PLOS BIOLOGY

SCL and associated proteins distinguish active from repressive GATA transcription factor complexes

(2008) T. Tripic et al.   BLOOD