Property Summary

NCBI Gene PubMed Count 162
PubMed Score 219.45
PubTator Score 219.60

Knowledge Summary

Patent

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Expression

Gene RIF (52)

PMID Text
26840243 results suggest that KLF1 directly regulates the beta-globin gene, but probably has less direct impact on expression of the gamma-globin gene in fetal erythroblasts
26686224 Data show that the ancestral allele C at rs2855126, located upstream of gamma-globin (HBG1) is associated with increased serum uric acid levels.
26575252 These data confirm the regulatory role of the HBG1: g.-225_-222 region that exerts its effect under conditions of erythropoietic stress characteristic for beta-thal patients.
26053062 a successful induction of gamma-globin includes a reduction in BCL11A, KLF1 and TAL1 expression.
25986606 Results indicate that compound II induces the gamma globin gene in hydroxyurea (HU)-resistant primary adult erythroid cells and suggest potenetial therapy for sickle cell disease (SCD) and severe beta-thalassemias.
25971621 analysis of a point mutation that increases fetal globin expression through de novo recruitment of the activator TAL1 to promote chromatin looping of distal enhancers to the modified gamma-globin promoter
25808664 Inactivation of HDAC1 or HDAC2 induces gamma-globin expression without altering cell cycle or proliferation.
25681747 Findings indicate that both antisickling beta-globin and gamma-globin lentiviral vectors demonstrate efficient gene transfer into sickle cells.
25565447 This report we discusses the molecular characteristics and diagnostic criteria of a new (A)gamma chain variant that was detected during newborn screening and named Hb F-Sykesville MD [(A)gamma113(G15)Val --> Ile; HBG1: c.340G>A].
24914133 Data indicate that hydroxyurea (HU) induces SAR1 protein expression, which in turn activates gamma-globin expression, predominantly through the Gialpha/JNK/Jun pathway.
24223142 There is synergism between developmental stage-specific recruitments of the ATF2 protein complex and expression of gamma-globin during erythropoiesis.
23993951 Data indicate that in embryonic stem cells (hESCs)-derived erythroblasts where both epsilon and gamma globin were active, epsilon globin was immediately silenced upon transfer, whereas gamma globin continued to be expressed for months.
23777413 Data suggest that segregation of BCL11A haplotype 2 indicating an involvement of this locus in Hb F expression.
23425329 the stimulation of GPCRs supports the postulated connection between cAMP/PKA and NO/cGMP pathways in activation of gamma-globin expression, via JUN and p38 MAPK signaling.
23071749 NF-Y recruits the developmentally regulated, erythroid transcription activator GATA-2 and general repressor BCL11A to modulate transcription of the gamma-globin gene.
22825848 results establish SATB2 as a novel gamma-globin gene regulator and provide a glimpse of the differential and cooperative roles of SATB family proteins in modulating clustered genes transcription
22739173 Methylation sites 28, 122, 231 and 234 bp of gamma-globin gene promoter are found both in patients with beta-thalassemia major and healthy adults.
22689669 data are consistent with a model in which WDR5 binds the gamma-globin promoter in a PRMT5-dependent manner.
22469229 Activation of the p38 MAPK pathway by sodium butyrate augments gamma-globin expression through a CREB1 response element (CRE) that is present in the upstream promoter region of Ggamma gene.
22273484 Three different gene rearrangements in three unrelated patients with the same breakpoints in the gamma-globin gene can lead to different levels of Hb A2 depending on the remaining number of gamma-globin genes.
22010104 Alternative NLI complexes mediate gamma-globin transcription or silencing through long-range locus control region interactions involving an intergenic site of noncoding RNA transcription and that ETO2 is critical to this process.
21144779 Xmn I polymorphism associated with concomitant activation of Ggamma and Agamma globin gene transcription on a beta0-thalassemia chromosome.
20676097 KLF1 controls globin gene switching by directly activating beta-globin and indirectly repressing gamma-globin gene expression.
20602015 polymorphisms -396_-391 del HBG2, -369 SNP HBG2 and -271 SNP HBG1 correlated with HbF levels, hence, it suggests an important role of HBG2 and HBG1 gene polymorphisms on the HbF synthesis.
20584642 Sodium butyrate increases the level of acetylated histone in gamma-globin gene promoter regions.
20439494 role of the hematopoietic transcription factor GATA-1, its cofactor FOG-1, and the associated chromatin remodeling complex NuRD in the developmental silencing of HBG1 and HBG2 gene expression
19958189 the gamma-globin -195 mutation is the unique cause of elevation of Hb F in Brazilian hereditary persistence of fetal hemoglobin
19958188 the A allele of -588, [+] allele of XmnI and HS-111 (-21 A) variation are useful genetic markers to differentiate between beta-thalassemia major and beta-thalassemia intermedia patients
19958188 Observational study of gene-disease association. (HuGE Navigator)
19861270 Low-dose hydroxyurea combined with sodium butyrate can up-regulate gamma globin gene expression in human erythroid progenitor cells.
19712585 The data suggest that miR-210 might be involved in increased expression of gamma-globin genes in differentiating erythroid cells.
19327156 Disrupting the bindings of the Oct-1 transcriptional factors with the decoy oligonucleotide provides a novel approach for inducing expression of the gamma-globin genes.
19220418 EKLF and the co-activator BRG1 are co-opted by short-chain fatty acid derivatives to activate the gamma globin genes
18718799 Observations from these two unique cases provide solid evidence that the Alphagamma - 158 C > T mutation plays an important role in Agamma-globin gene transcription.
18615450 Very low HBA2 levels of HBA2 in compound heterozygotes result from functional inhibition of the HBD gene in cis to the HBG1 gene bearing the nd-HPFH mutation. Absence of the HBG1:g.-225-222AGCAdel variation correlated with lower HbF & higher HbA2 levels.
18347053 during definitive erythropoiesis, gamma-globin gene expression is silenced, in part, by binding a protein complex containing GATA-1, FOG-1, and Mi2 at the -566/-567 GATA sites of the proximal gamma-globin promoters
18096417 study reports 2 new forms of nondeletional hereditary persistence of fetal hemoglobin; the presence of a (G)gamma-196 C-->T in the first case and an (A)gamma-201 C-->T in the second was revealed
17976188 analysis of a model for dynamic post-transcriptional control of gamma-globin gene expression, through modulation of the stability of its encoding mRNA
17916326 This work describes the study of the interactions of different hemoglobin variants HbA, HbE and HbF and the globin subunits of HbA with the two aminophospholipids in the presence and absence of cholesterol.
17612629 data provide important clues for identifying and validating trans-activators that activate the gamma-globin gene in fetuses, and trans-acting factors involved in silencing the gamma-globin gene in adults
17212360 These results suggest that different PKC isoforms may exert ontogenetic-specific functions in erythropoiesis and that modulation of PKCalpha might affect the activity of (A)gamma-promoter-driven reporters.
16849648 A novel gamma-globin-inducing short-chain fatty acid derivative (SCFAD), RB7, which was identified through computational modeling, produced a 6-fold induction in a reporter assay.
16631597 Together, these results show that the cAMP pathway blocks gamma-globin gene expression in K562 cells by increasing c-Myb expression.
15831451 Direct repeat element in the promoter region of the gamma-globin gene autonomously mediates definitive stage-specific gene silencing.
15613485 a multiprotein complex containing GATA-1, Oct-1, and other protein factors may contribute to the formation of a repressive chromatin structure that silences gamma-globin gene expression
14649320 in an Albanian family, two mutations of the gamma-globin promoter (for both HBG1 and HBG2) are assoicated in trans with a beta thal point mutation, that results in increased levels of HbF
14645237 human gamma-globin gene expression is developmentally regulated by the CCAAT box
12393583 In transgenic mice treated with short-chain fatty acid derivatives once daily for 5 days, human gamma globin mRNA increased 2-fold, reticulocytes increased 2-fold.
12393499 Apicidin activates the A gamma globin gene promoter. Activation of the Agamma-globin promoter by apicidin could be inhibited by p38 inhibitor SB203580
12093744 DRED binds with high affinity to DR1 sites in the human epsilon & gamma globin promoters, but the adult beta-globin promoter has no DR1 element. An HPFH mutation in a DR1 site causes elevated gamma-globin transcription & reduces TR2/TR4 binding in vitro.
11960008 Developmental specificity of recruitment of TBP to the TATA box of the human gamma-globin gene
8911578 HIV-1 Tat inhibits the butyric acid-induced gamma-globin gene expression in human hematopoietic progenitor K562 cells

AA Sequence

MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLT      1 - 70
SLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVAS     71 - 140
ALSSRYH                                                                   141 - 147
//

Text Mined References (169)

PMID Year Title
26840243 2016 Krüppel-Like Transcription Factor KLF1 Is Required for Optimal ?- and ?-Globin Expression in Human Fetal Erythroblasts.
26686224 2015 Evolutionary context for the association of ?-globin, serum uric acid, and hypertension in African Americans.
26575252 2016 Functional Analysis of an (A)?-Globin Gene Promoter Variant (HBG1: g.-225_-222delAGCA) Underlines Its Role in Increasing Fetal Hemoglobin Levels Under Erythropoietic Stress.
26053062 2015 Variation in Gamma-Globin Expression before and after Induction with Hydroxyurea Associated with BCL11A, KLF1 and TAL1.
25986606 2015 Pharmacological Induction of Human Fetal Globin Gene in Hydroxyurea-Resistant Primary Adult Erythroid Cells.
25971621 2015 Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin.
25808664 2015 Inactivation of HDAC1 or HDAC2 induces gamma globin expression without altering cell cycle or proliferation.
25681747 2015 Potentially therapeutic levels of anti-sickling globin gene expression following lentivirus-mediated gene transfer in sickle cell disease bone marrow CD34+ cells.
25565447 2015 A new A?-globin chain variant: Hb F-Sykesville MD [A?113(G15)Val ? Ile; HBG1: c.340G>A] detected in a Caucasian baby.
24914133 2014 Hydroxyurea-inducible SAR1 gene acts through the Gi?/JNK/Jun pathway to regulate ?-globin expression.
24502349 2014 A new (G)?-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)?105(G7)Leu?His; HBG2: c.317T>A].
24223142 2013 Regulation of G?-globin gene by ATF2 and its associated proteins through the cAMP-response element.
23993951 2013 Transcriptional environment and chromatin architecture interplay dictates globin expression patterns of heterospecific hybrids derived from undifferentiated human embryonic stem cells or from their erythroid progeny.
23777413 2013 Annotated definition of BCL11A and HMIP-2 haplotypes through the analysis of sicilian ?-thalassemia patients with high levels of fetal hemoglobin.
23425329 2013 Globin gene expression in correlation with G protein-related genes during erythroid differentiation.
23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23071749 2012 NF-Y recruits both transcription activator and repressor to modulate tissue- and developmental stage-specific expression of human ?-globin gene.
22825848 2012 The AT-rich DNA-binding protein SATB2 promotes expression and physical association of human (G)?- and (A)?-globin genes.
22739173 2012 [Methylation status of ?-globin gene promoter in ?-thalassemia major].
22689669 2012 The role of WDR5 in silencing human fetal globin gene expression.
22469229 2012 cAMP response element-binding protein 1 is required for hydroxyurea-mediated induction of ?-globin expression in K562 cells.
22273484 2012 Comparison of two known chromosomal rearrangements in the ??-globin complex with identical DNA breakpoints but causing different Hb A(2) levels.
22096240 2012 Fetal hemoglobin levels and morbidity in untransfused patients with ?-thalassemia intermedia.
22010104 2011 Distinct Ldb1/NLI complexes orchestrate ?-globin repression and reactivation through ETO2 in human adult erythroid cells.
21747884 2011 Hemoglobin F level in different hemoglobin variants.
21269460 2011 Initial characterization of the human central proteome.
21144779 2011 Xmn I polymorphism associated with concomitant activation of G? and A? globin gene transcription on a ?0-thalassemia chromosome.
20925047 2010 Haemoglobin level, proportion of haemoglobin Bart's and haemoglobin Portland in fetuses affected by homozygous ?0-thalassemia from 12 to 40 weeks' gestation.
20676097 2010 KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching.
20602015 2010 Promoter region sequence differences in the A and G gamma globin genes of Brazilian sickle cell anemia patients.
20584642 2010 [Effects of sodium butyrate on acetylation of histone in gamma-globin gene promoter regions in K562 cells: a study using chromatin immunoprecipitation].
20439494 2010 Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes.
20183929 2010 A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
19958189 2009 High levels of human gamma-globin are expressed in adult mice carrying a transgene of the Brazilian type of hereditary persistence of fetal hemoglobin ((A)gamma -195).
19958188 2009 Molecular analysis of gamma-globin promoters, HS-111 and 3'HS1, in beta-thalassemia intermedia patients associated with high levels of Hb F.
19861270 2009 [Effect of low-dose hydroxyurea with sodium butyrate on globin gene expression in human erythroid progenitor cells].
19712585 2009 Expression of miR-210 during erythroid differentiation and induction of gamma-globin gene expression.
19327156 2009 Induction of endogenous gamma-globin gene expression with decoy oligonucleotide targeting Oct-1 transcription factor consensus sequence.
19220418 2009 Erythroid Kruppel-like factor (EKLF) is recruited to the gamma-globin gene promoter as a co-activator and is required for gamma-globin gene induction by short-chain fatty acid derivatives.
18718799 Compound heterozygosity for the Cretan type of non-deletional hereditary persistence of fetal hemoglobin and beta-thalassemia or Hb Sabine confirms the functional role of the Agamma -158 C>T mutation in gamma-globin gene transcription.
18615450 2008 Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia.
18347053 2008 Silencing of Agamma-globin gene expression during adult definitive erythropoiesis mediated by GATA-1-FOG-1-Mi2 complex binding at the -566 GATA site.
18096417 G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece.
17976188 2007 A post-transcriptional process contributes to efficient gamma-globin gene silencing in definitive erythroid cells.
17916326 2008 Membrane interactions of hemoglobin variants, HbA, HbE, HbF and globin subunits of HbA: effects of aminophospholipids and cholesterol.
17612629 2007 Screening for trans-acting factors and other factors involved in the activating or silencing of the gamma-globin gene during human ontogeny.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17212360 2007 Protein kinase Calpha is differentially activated during neonatal and adult erythropoiesis and favors expression of a reporter gene under the control of the (A)gamma globin-promoter in cellular models of hemoglobin switching.
16849648 2006 Short-chain fatty acids induce gamma-globin gene expression by displacement of a HDAC3-NCoR repressor complex.
16631597 2006 cAMP differentially regulates gamma-globin gene expression in erythroleukemic cells and primary erythroblasts through c-Myb expression.
16131492 2005 {gamma}-Globin gene expression in chemical inducer of dimerization (CID)-dependent multipotential cells established from human {beta}-globin locus yeast artificial chromosome ({beta}-YAC) transgenic mice.
15831451 2005 Adult stage gamma-globin silencing is mediated by a promoter direct repeat element.
15666429 2004 Hb F-Porto Torres [Agamma75(E19)Ile-->Thr, 136(H14)Ala-->Ser]: a novel variant of the Agamma chain having two substitutions, one being that of Hb F-Sardinia.
15613485 2005 T to C substitution at -175 or -173 of the gamma-globin promoter affects GATA-1 and Oct-1 binding in vitro differently but can independently reproduce the hereditary persistence of fetal hemoglobin phenotype in transgenic mice.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15108284 2004 Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.
14649320 2003 Differential segregation of beta+ IVS-I-110 (G --> A), A(gamma) -117 (G-->A), and G(gamma) -158 (C --> T) mutations in members of an Albanian family.
14645237 2004 Developmentally specific role of the CCAAT box in regulation of human gamma-globin gene expression.
12488461 2002 The human plasma proteome: history, character, and diagnostic prospects.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12393583 2002 Short-chain fatty acid derivatives induce fetal globin expression and erythropoiesis in vivo.
12393499 2003 Induction of fetal hemoglobin expression by the histone deacetylase inhibitor apicidin.
12093744 2002 An embryonic/fetal beta-type globin gene repressor contains a nuclear receptor TR2/TR4 heterodimer.
11960008 2002 Developmental specificity of recruitment of TBP to the TATA box of the human gamma-globin gene.
11514664 2001 Oligomerization and ligand binding in a homotetrameric hemoglobin: two high-resolution crystal structures of hemoglobin Bart's (gamma(4)), a marker for alpha-thalassemia.
11172039 2001 Mechanism for fetal globin gene expression: role of the soluble guanylate cyclase-cGMP-dependent protein kinase pathway.
9703422 1998 The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C-->T] results from two independent gene conversion events.
8566966 1996 HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family.
8194849 1994 Sequence correction and reassignment of the TaqI polymorphic site in the human inter-gamma-globin gene region, an African-specific marker.
7928382 1994 Hb F-Macedonia-I or alpha 2A gamma (2)2(NA2)His- > Gln.
7690768 1993 The M gamma chain of human fetal hemoglobin is an A gamma chain with an in vitro modification of gamma 141 leucine to hydroxyleucine.
7555018 1995 The multiple functions of hemoglobin.
7438203 1980 Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.
7332928 1981 A history of the human fetal globin gene duplication.
7162987 1982 Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene.
7151176 1982 A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.
6985481 1981 Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.
6985477 1980 The structure and evolution of the human beta-globin gene family.
6985475 1980 Nonsense mutation as a cause of beta 0 thalassemia.
6895866 1981 Beta + thalassemia: aberrant splicing results from a single point mutation in an intron.
6714226 1984 Molecular characterization of seven beta-thalassemia mutations in Asian Indians.
6701091 1984 Alternative sites of transcription initiation upstream of the canonical cap site in human gamma-globin and beta-globin genes.
6652684 1983 Unexpected relationships between four large deletions in the human beta-globin gene cluster.
6457059 1981 beta zero thalassemia in Sardinia is caused by a nonsense mutation.
6330670 1984 Human fetal globin DNA sequences suggest novel conversion event.
6327288 1984 The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.
6324786 1984 A fusion gene in man: DNA sequence analysis of the abnormal globin gene of hemoglobin Miyada.
6303333 1983 A weak upstream promoter gives rise to long human beta-globin RNA molecules.
6297279 1982 The structure and expression of the haemoglobin genes.
6292840 1982 mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
6292831 1982 Epsilon globin gene transcripts originating upstream of the mRNA cap site in K562 cells and normal human embryos.
6280057 1982 Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
6272205 1981 Structure and expression of a cloned beta o thalassaemic globin gene.
6270663 1981 A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.
6264391 1981 An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene.
6210198 1984 A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia.
6199326 1983 Hb F-Calluna or alpha 2 gamma 2(12 Thr replaced by Arg; 75Ile; 136Ala) in a Caucasian baby.
6198905 1984 HB F-Yamaguchi (gamma 75Thr, gamma 80Asn, gamma 136Ala) is associated with G gamma-thalassemia.
6197997 1983 Characterization of a new fetal hemoglobin variant, Hb F Izumi A gamma 6Glu replaced by Gly, by molecular secondary ion mass spectrometry.
6194897 1983 Multiple origins of transcription in the 4.5 Kb upstream of the epsilon-globin gene.
6194893 1983 Human beta-globin promoter and coding sequences transcribed by RNA polymerase III.
6188719 1983 Hb F-Siena (alpha 2 a gamma t2 121 (GH4) Glu leads to Lys). A new fetal hemoglobin variant.
6186637 1982 Hb F-Bonaire-Ga or alpha 2 A gamma 2 39(C5) Gln replaced by Arg, characterized by high pressure liquid chromatographic and microsequencing procedures.
6184621 1982 The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat.
6183236 1982 A new gamma chain variant: Hb F-Pordenone [gamma 6(A3) Glu replaced by Gln: 75ILE: 136ALA].
6175602 1982 A new gamma chain variant, HB F Kotobuki or AI gamma 6 (A3) Glu leads to Gly.
6165992 1981 beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0].
6163752 1981 Survey of cord blood hemoglobin in Japan and identification of two new gamma chain variants.
6155216 1980 Molecular cloning and characterization of the human beta-like globin gene cluster.
6095301 1984 Identification of a retrovirus-like repetitive element in human DNA.
6091051 1984 Two novel arrangements of the human fetal globin genes: G gamma-G gamma and A gamma-A gamma.
6086605 1984 Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.
6038320 1967 Haemoglobin F Hull (gamma-121 glutamic acid--lysine), homologous with haemoglobins O Arab and O Indonesia.
6019034 1967 Haemoglobin F Texas I(alpha-2,gamma-2-5glu-lys): a variant of haemoglobin F.
5554303 1971 Human fetal hemoglobin F 1. Acetylation status.
5491586 1970 Haemoglobin F Jamaica (alpha-2 gamma-2 61 Lys leads to Glu; 136 Ala).
4765089 1973 Structural identification of haemoglobin F Kuala Lumpur: alpha2 gamma2 22(B4)Asp leads to Gly; 136 Ala.
4676910 1972 Hemoglobin Kenya, the product of fusion of amd polypeptide chains.
4455303 1974 Genetic haemoglobin abnormalities in about 9000 Black and 7000 White newborns; haemoglobin F Dickinson (Agamma97His-Arg), a new variant.
3879975 1985 The "beta-like-globin" gene domain in human erythroid cells.
3879973 1985 Cryptic branch point activation allows accurate in vitro splicing of human beta-globin intron mutants.
3857622 1985 mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence.
3455755 1986 Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine.
3382401 1988 Beta-thalassemia due to a T----A mutation within the ATA box.
3377986 1988 Four base-pair DNA deletion in human A gamma globin-gene promoter associated with low A gamma expression in adults.
3267215 1988 Direct sequencing of enzymatically amplified human genomic DNA.
3181130 1988 The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene.
2933810 1985 The 3' splice site of pre-messenger RNA is recognized by a small nuclear ribonucleoprotein.
2649166 1989 A review of the molecular genetics of the human alpha-globin gene cluster.
2581920 1985 Hb F-Pendergrass, an A gamma I variant with a Pro----Arg substitution at position gamma 36(C2).
2581851 1985 Cloning specific complete polyadenylylated 3'-terminal cDNA segments.
2578620 1985 A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin.
2578619 1985 G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.
2469505 1989 The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin.
2467893 1989 Hb F-Fukuyama or A gamma T43(CD2)Asp----Asn.
2454900 1988 Hb F-Baskent or alpha 2A gamma 128(H6)Ala----Thr.
2452784 1988 A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia.
2448269 1987 Hb F-Xin-Su or A gamma I73(E17)Asp----His: a new slow-moving fetal hemoglobin variant.
2448268 1987 Hb F-Xinjiang or A gamma T25(B7)Gly----Arg: a new slow-moving unstable fetal hemoglobin variant.
2442092 1987 Characterization of chromosomes with hybrid genes for Hb Lepore-Washington, Hb Lepore-Baltimore, Hb P-Nilotic, and Hb Kenya.
2441598 1987 The Greek A gamma beta+-HPFH observed in a large black family.
2423160 1986 Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter.
2420697 1986 Fetal hemoglobin variants in 80,000 Japanese neonates: high prevalence of Hb F Yamaguchi (A gamma T 80 Asp----Asn).
2419280 1985 Hb F-Cobb or alpha(2)A gamma(2)37(C3)Trp----Gly.
2417989 1985 Hb F-Beech Island or alpha 2A gamma 2(53)(D4)Ala----Asp.
2417646 1986 Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks.
2413469 1985 Sequences of G gamma, A gamma, and beta genes of the Greek (A gamma) HPFH mutant: evidence for a distal CCAAT box mutation in the A gamma gene.
2412617 1985 Fetal hemoglobin variants identified in adults through restriction endonuclease gene mapping methodology.
2411679 1985 Hb F-Dammam or alpha 2A gamma 2(79) (EF3) Asp----Asn.
2224140 1990 The Brazilian type of nondeletional A gamma-fetal hemoglobin has a C----G substitution at nucleotide -195 of the A gamma-globin gene.
1802881 1991 Gamma chain abnormalities and gamma-globin gene rearrangements in newborn babies of various populations.
1714434 1990 Hb F-Charlotte, an A gamma variant with a threonine residue in position gamma 75 and a glycine residue in position gamma 136.
1704803 1991 The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene.
1703137 1990 Hb F-Jiangsu, the first gamma chain variant with a valine----methionine substitution: alpha 2A gamma 2 134(H12)Val----Met.
1698280 1990 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.
1487421 1992 Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia.
1379347 1992 A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin.
1374633 1992 Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH.
1342932 1992 Reexamination of the African hominoid trichotomy with additional sequences from the primate beta-globin gene cluster.
1283810 1992 Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya.
1138921 1975 Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try).
881729 1977 Structure of human foetal deoxyhaemoglobin.
873928 1977 Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA.
822353 1976 3' non-coding region sequences in eukaryotic messenger RNA.
808940 1975 A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2.
318163 1978 Sequence of the 3'-noncoding and adjacent coding regions of human gamma-globin mRNA.
291015 1979 Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia).
88735 1979 beta 0 thalassemia, a nonsense mutation in man.