A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression.

No abstract is available for this paper.

• Publication year

  1990

• Venue

  Nucleic Acids Research

• Publication date

  1990-09-11

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/NAR/18.17.5245PMID 1698280PMCID PMC332148
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the β-globin cluster

  2004cited by this paper
• Molecular heterogeneity of β‐thalassaemia in the Japanese: identification of two novel mutations

  1990cited by this paper
• Nuclear protein factors and erythroid transcription of the human A gamma-globin gene.

  1989cited by this paper
• An A gamma type of nondeletional hereditary persistence of fetal hemoglobin with a T----C mutation at position -175 to the cap site of the A gamma globin gene.

  1989cited by this paper
• The deletion of the distal CCAAT box region of the A gamma-globin gene in black HPFH abolishes the binding of the erythroid specific protein NFE3 and of the CCAAT displacement protein.

  1989cited by this paper
• Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor.

  1989cited by this paper
• Heterogeneity of the gamma-globin gene sequences in Japanese individuals: implication of gene conversion in generation of polymorphisms.

  1989cited by this paper
• GATAAG; a cis-control region binding an erythroid-specific nuclear factor with a role in globin and non-globin gene expression.

  1989cited by this paper
• A novel ochre mutation in the beta-thalassemia gene of a Thai. Identification by direct cloning of the entire beta-globin gene amplified using polymerase chain reactions.

  1989cited by this paper
• Molecular basis of beta-thalassemia in Thailand: analysis of beta-thalassemia mutations using the polymerase chain reaction.

  1989cited by this paper
• Upstream promoter mutation associated with a modest elevation of fetal hemoglobin expression in human adults.

  1988cited by this paper
• Hemoglobin synthesis of both adult and fetal types in a human CML cell line.

  1988cited by this paper
• Distal CCAAT box deletion in the A gamma globin gene of two black adolescents with elevated fetal A gamma globin.

  1988cited by this paper
• A single-base change at position -175 in the 5'-flanking region of the G gamma-globin gene from a black with G gamma-beta+ HPFH.

  1988cited by this paper
• The −117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma‐globin gene.

  1988cited by this paper
• Sardinian G gamma-HPFH: a T----C substitution in a conserved "octamer" sequence in the G gamma-globin promoter.

  1988cited by this paper
• Human CCAAT-binding proteins have heterologous subunits.

  1988cited by this paper
• Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

  1988cited by this paper
• The molecular basis of blood diseases

  1988cited by this paper
• Elevated haemoglobin F in juvenile and adult chronic myelogenous leukaemia.

  1988cited by this paper
• The human beta‐globin promoter; nuclear protein factors and erythroid specific induction of transcription.

  1988cited by this paper
• The effects of HPFH mutations in the human gamma-globin promoter on binding of ubiquitous and erythroid specific nuclear factors.

  1988cited by this paper
• The human beta-globin gene 3' enhancer contains multiple binding sites for an erythroid-specific protein.

  1988cited by this paper
• Nuclear proteins that bind the human gamma-globin gene promoter: alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin

  1988cited by this paper
• Molecular analysis of the high-hemoglobin-F phenotype in Saudi Arabian sickle cell anemia.

  1987cited by this paper
• Mutually exclusive interaction of the CCAAT-binding factor and of a displacement protein with overlapping sequences of a histone gene promoter.

  1987cited by this paper
• Characteristics of beta A chromosome haplotypes in Japanese.

  1987cited by this paper
• The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene.

  1986cited by this paper
• Fine structure genetic analysis of a beta-globin promoter.

  1986cited by this paper
• Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter.

  1986cited by this paper
• Promoter sequences required for function of the human gamma globin gene in erythroid cells.

  1986cited by this paper
• Dideoxy sequencing method using denatured plasmid templates.

  1986cited by this paper
• G to A substitution in the distal CCAAT box of the Aγ-globin gene in Greek hereditary persistence of fetal haemoglobin

  1985cited by this paper
• A point mutation in the Aγ-globin gene promoter in Greek hereditary persistence of fetal haemoglobin

  1985cited by this paper
• Developmental regulation of human globin genes.

  1985cited by this paper
• DNA sequence variation associated with elevated fetal G gamma globin production.

  1985cited by this paper
• A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta‐thalassemia.

  1984cited by this paper
• G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene.

  1984cited by this paper
• Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei.

  1983cited by this paper
• A gene controlling fetal hemoglobin expression in adults is not linked to the non‐alpha globin cluster.

  1983cited by this paper
• Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells

  1982cited by this paper
• A history of the human fetal globin gene duplication.

  1981cited by this paper
• Coordinate expression of erythroid marker enzymes during dimethylsulfoxide-induced differentiation of Friend erythroleukemia cells.

  1980cited by this paper
• Sequencing end-labeled DNA with base-specific chemical cleavages.

  1980cited by this paper
• Globin chain electrophoresis: a new approach to the determination of the G gamma/A gamma ratio in fetal haemoglobin and to studies of globin synthesis.

  1980cited by this paper
• K562 human leukaemic cells synthesise embryonic haemoglobin in response to haemin

  1979cited by this paper
• Hemoglobin switching

  1978cited by this paper
• Separation of human hemoglobins by DEAE-cellulose chromatography using glycine-KCN-NaC1 developers.

  1976cited by this paper
• A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.

  1976cited by this paper
• Human chronic myelogenous leukemia cell-line with positive Philadelphia chromosome.

  1975cited by this paper
• Detection of specific sequences among DNA fragments separated by gel electrophoresis.

  1975cited by this paper
• A new type of hereditary persistence of foetal haemoglobin: is a diffusible factor regulating γ-chain synthesis?

  1974cited by this paper
• Hemoglobin synthesis in murine virus-induced leukemic cells in vitro: stimulation of erythroid differentiation by dimethyl sulfoxide.

  1971cited by this paper

• Enhanced induction of fetal hemoglobin by the combination of decitabine with RN-1 in β-thalassemia/HbE erythroid progenitor cells

  2026cites this paper
• Role of B-Cell Lymphoma/Leukemia 11A in Normal and Malignant Hematopoiesis

  2025cites this paper
• Hereditary Persistence of Fetal Hemoglobin (HPFH): Detection of Unknow Aγ-Globin Promoter Mutation at the C2H2 Zinc Finger Transcription Factors Binding Sites

  2025cites this paper
• Functional categorization of gene regulatory variants that cause Mendelian conditions

  2024cites this paper
• Roles of Nuclear Orphan Receptors TR2 and TR4 during Hematopoiesis

  2024cites this paper
• Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors

  2023cites this paper
• Molecular understanding of unusual HbE-β+-thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels

  2023cites this paper
• Identification of novel HPFH-like mutations by CRISPR base editing that elevate the expression of fetal hemoglobin

  2022cites this paper
• Prime editing: A potential treatment option for β‐thalassemia

  2022cites this paper
• Genetic predictions of life expectancy in southern Thai patients with β0-thalassemia/Hb E

  2022cites this paper
• Activation of γ-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin

  2021cites this paper
• Innovative Therapies for Hemoglobin Disorders

  2020cites this paper
• Epigenetic activities in erythroid cell gene regulation.

  2020cites this paper
• Hb Athens-Georgia (beta 40(C6) Arg > Lys, HBB:c.122G > A) with a single α-globin gene (Hb H disease) in a Thai family: molecular, hematological, and diagnostic aspects

  2020cites this paper
• Manipulation of Developmental Gamma-Globin Gene Expression: an Approach for Healing Hemoglobinopathies

  2020cites this paper
• Identification of novel HPFH-like mutations by CRISPR base editing that elevates the expression of fetal hemoglobin

  2020cites this paper
• Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2

  2019cites this paper
• Structural insights into the recognition of γ-globin gene promoter by BCL11A

  2019cites this paper
• Genetic variation of Krüppel-like factor 1 (KLF1) and fetal hemoglobin (HbF) levels in β0-thalassemia/HbE disease

  2018cites this paper
• Quantitative Trait Loci Influencing Hb F Levels in Southern Thai Hb E (HBB: c.79G>A) Heterozygotes

  2018influential citation
• Wake-up Sleepy Gene: Reactivating Fetal Globin for β-Hemoglobinopathies.

  2018cites this paper
• Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding

  2018cites this paper
• Epigenetic interplay at the β-globin locus.

  2017cites this paper
• The regulation of human globin promoters by CCAAT box elements and the recruitment of NF-Y.

  2017cites this paper
• Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder.

  2016cites this paper
• Insights Into Terminal Erythropoiesis Influenced By Human Genetic Variation

  2016influential citation
• Cell signaling pathways involved in drug-mediated fetal hemoglobin induction: Strategies to treat sickle cell disease

  2015cites this paper
• Phenotype and Genotype in a Cohort of 312 Adult Patients with Nontransfusion-Dependent Thalassemia in Northeast Thailand

  2015cites this paper
• A novel (A)γδβ(0)-thalassemia caused by DNA deletion-inversion-insertion of the β-globin gene cluster and five olfactory receptor genes: Genetic interactions, hematological phenotypes and molecular characterization.

  2015cites this paper
• Krüppel-like factor 1 mutations and expression of hemoglobins F and A2 in homozygous hemoglobin E syndrome

  2015cites this paper
• Compound loss of function of nuclear receptors Tr2 and Tr4 leads to induction of murine embryonic β-type globin genes.

  2015cites this paper
• RED CELLS , IRON , AND ERYTHROPOIESIS Compound loss of function of nuclear receptors Tr 2 and Tr 4 leads to induction of murine embryonic b-type globin genes

  2015cites this paper
• Bone marrow failure synd romes and refractory cytopenia of childhood

  2014cites this paper
• Human fetal globin gene expression is regulated by LYAR

  2014cites this paper
• Variability of hemoglobin F expression in hemoglobin EE disease: hematological and molecular analysis.

  2014cites this paper
• Fetal Globin Gene Repressors as Drug Targets for Molecular Therapies To Treat the β-Globinopathies

  2014cites this paper
• Prevention of Thalassaemias and Other Haemoglobin Disorders: Volume 1: Principles

  2013cites this paper
• Genetic basis of hereditary persistence of fetal haemoglobin

  2013cites this paper
• promoter TERC Human telomere disease due to disruption of the CCAAT box of the

  2012cites this paper
• Characterization of the transcriptome profiles related to globin gene switching during in vitro erythroid maturation

  2012cites this paper
• The hemoglobin regulatory regions

  2012cites this paper
• Hemoglobin Lepore EF Bart’s disease: a molecular, hematological, and diagnostic aspects

  2011cites this paper
• Hb Phimai [β72(E16)Ser→Thr]: A Novel β-Globin Structural Variant Found in Association with Hb Constant Spring in Pregnancy

  2011cites this paper
• Human telomere disease due to disruption of the CCAAT box of the TERC promoter.

  2011cites this paper
• Interactions of hemoglobin Lepore (deltabeta hybrid hemoglobin) with various hemoglobinopathies: A molecular and hematological characteristics and differential diagnosis.

  2010cites this paper
• Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand.

  2009cites this paper
• Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.

  2009cites this paper
• Disorders of Hemoglobin: THE MOLECULAR, CELLULAR, AND GENETIC BASIS OF HEMOGLOBIN DISORDERS

  2009cites this paper
• Disorders of hemoglobin: Genetics, pathophysiology, and clinical management, second edition

  2009cites this paper
• Disorders of Hemoglobin: The Molecular Basis of β Thalassemia, δβ Thalassemia, and Hereditary Persistence of Fetal Hemoglobin

  2009cites this paper
• Disorders of Hemoglobin: THE β THALASSEMIAS

  2009cites this paper
• Gene promoter analysis and molecular diagnostics – Application to erythroid-specific gene expression

  2008cites this paper
• Identification of regulatory elements by gene family footprinting and in vivo analysis.

  2007cites this paper
• H63D Mutation of the Hemochromatosis Gene and Serum Ferritin Levels in Thai Thalassemia Carriers

  2007cites this paper
• Characterization of the − 16C>G sequence variation in the promoters of both HBG1 and HBG2: Convergent evolution of the human γ-globin genes

  2007cites this paper
• Characterization of the -16C>G sequence variation in the promoters of both HBG1 and HBG2: convergent evolution of the human gamma-globin genes.

  2007cites this paper
• Molecular Mechanism of High Hemoglobin F Production in Southeast Asian-Type Hereditary Persistence of Fetal Hemoglobin

  2006cites this paper
• Functional Profile of the Human Fetal y-Globin Gene Upstream Promoter Region

  2006cites this paper
• Understanding mechanisms of γ‐globin gene regulation to develop strategies for pharmacological fetal hemoglobin induction

  2006cites this paper
• Association of Hb Q‐Thailand with homozygous Hb E and heterozygous Hb Constant Spring in pregnancy

  2005cites this paper
• Molecular and haematological characterization of compound Hb E/Hb Pyrgos and Hb E/Hb J-Bangkok in Thai patients.

  2005cites this paper
• Using 3 '-Azido-2 ' , 3 '-Dideoxythymidine ( AZT ) and Related Dideoxynucleosides in the Therapy of AIDS

  2005influential citation
• Mining Genome Variation to Associate Genetic Disease with Mutation Alterations and Ortho/Paralogous Polimorphysms in Transcription Factor Binding Site

  2005cites this paper
• Transcription factor binding to variable nucleotide sequences in 5′-flanking regions of bovine casein genes

  2004cites this paper
• Molecular and hematological characterization of hemoglobin Hope/hemoglobin E and hemoglobin Hope/alpha-thalassemia 2 in Thai patients.

  2004cites this paper
• Molecular and hematologic features of hemoglobin E heterozygotes with different forms of α-thalassemia in Thailand

  2003cites this paper
• Thalassemia Caused by Disruption of the Site for an Erythroid-Specific Transcription Factor , GATA-1 , in the & Globin Gene Promoter

  2003cites this paper
• Hb Paksé [(α2) CODON 142 (TA A→TA T OR Term→Tyr)] IN THAI PATIENTS WITH EABart's DISEASE AND Hb H DISEASE

  2002cites this paper
• Compound heterozygosity for Hb Korle-Bu (β73; Asp-Asn) and Hb E (β26; Glu-Lys) with a 3.7-kb deletional α-thalassemia in Thai patients

  2002cites this paper
• Compound heterozygosity for Hb Korle-Bu (beta(73); Asp-Asn) and Hb E (beta(26); Glu-Lys) with a 3.7-kb deletional alpha-thalassemia in Thai patients.

  2002cites this paper
• Mining DNA sequences to predict sites which mutations cause genetic diseases

  2002cites this paper
• Molecular and hematological characterization of HPFH‐6/Indian deletion–inversion Gγ(Aγδβ)0‐thalassemia and Gγ(Aγδβ)0‐thalassemia/HbE in Thai patients

  2002cites this paper
• Molecular characterization of thalassemia intermedia with homozygous Hb Malay and Hb Malay/HbE in Thai patients.

  2001cites this paper
• Molecular characterization of hemoglobin C in Thailand

  2001cites this paper
• Cooperation and competition between the binding of COUP-TFII and NF-Y on human epsilon- and gamma-globin gene promoters.

  2001cites this paper
• Pathophysiology of sickle cell disease: role of cellular and genetic modifiers.

  2001cites this paper
• Mining genome variation to associate disease with transcription factor binding site alteration

  2001cites this paper
• Atypical hemoglobin H disease in a Thai patient resulting from a combination of α‐thalassemia 1 and hemoglobin Constant Spring with hemoglobin J Bangkok heterozygosity

  2001cites this paper
• Nucleotide variation regulates the level of enhancement by hypersensitive site 2 of the beta-globin locus control region.

  2001cites this paper
• Cooperation and Competition between the Binding of COUP-TFII and NF-Y on Human ε- and γ-Globin Gene Promoters*

  2001cites this paper
• Predicting Protein Binding Site Presence/Absence in SNP-Related Alleles by Accounting Gel Mobility Shift Assay

  2000influential citation
• A novel four base‐pair deletion within the Aγ‐GLOBin gene promoter associated with slight increase of Aγ expression in adult

  2000cites this paper
• A novel four base-pair deletion within the Agamma-GLOBin gene promoter associated with slight increase of Agamma expression in adult.

  2000cites this paper
• Contribution of gene conversion in the evolution of the human β-like globin gene family

  1999cites this paper
• Genetic Approaches to Therapy for the Hemoglobinopathies

  1999cites this paper
• Regulation of embryonic/fetal globin genes by nuclear hormone receptors: a novel perspective on hemoglobin switching

  1999cites this paper
• A novel C→A transversion within the distal CCAAT motif of the Gγ-globin gene in the algerian Gγβ+-hereditary persistence of fetal hemoglobin

  1999cites this paper
• A novel C-->A transversion within the distal CCAAT motif of the Ggamma-globin gene in the Algerian Ggammabeta+-hereditary persistence of fetal hemoglobin.

  1999cites this paper
• NF-Y binding to twin CCAAT boxes: role of Q-rich domains and histone fold helices.

  1999cites this paper
• Factor binding to the human γ‐globin gene distal CCAAT site: candidates for repression of the normal gene or activation of HPFH mutants

  1998influential citation
• Gamma-globin gene promoter elements required for interaction with globin enhancers.

  1998cites this paper
• The thalassemia repository (Ninth Edition; Part II).

  1998cites this paper
• The Thalassemia Repository (Ninth Edition; Part II)

  1998cites this paper
• NF-Y Organizes the γ-Globin CCAAT Boxes Region*

  1998cites this paper
• Quantification of Ggamma- and Agamma-globins by electrospray ionisation mass spectrometry.

  1998cites this paper
• A role for the distal CCAAT box of the gamma-globin gene in Hb switching.

  1995cites this paper
• Genetic Modulation of Sickle Cell Anemia

  1995cites this paper
• Differential Binding of the NFE3 and CP1/NFY Transcription Factors to the Human γ- and ε-Globin CCAAT Boxes (*)

  1995cites this paper
• A simple non-radioactive assay for hemoglobin E gene in prenatal diagnosis.

  1994cites this paper
• The Australian type of nondeletional Gγ‐HPFH has a C→G substitution at nucleotide — 114 of the Gγ gene

  1994cites this paper