Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.
about
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiencyStress-induced binding of the transcriptional factor CHOP to a novel DNA control elementA new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a modelThe C/EBP family of transcription factors in the liver and other organs.Haemophilia A and haemophilia B: molecular insightsNeuronal specificity of the alpha 7 nicotinic acetylcholine receptor promoter develops during morphogenesis of the central nervous system.Modulation of mouse coagulation gene transcription following acute in vivo delivery of synthetic small interfering RNAs targeting HNF4α and C/EBPα.A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden.A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activityMutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.Haemophilia B (sixth edition): a database of point mutations and short additions and deletionsHaemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.rSNP_Guide: an integrated database-tools system for studying SNPs and site-directed mutations in transcription factor binding sites.Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993Regulatory mutations and human genetic disease.Multi-species, multi-transcription factor binding highlights conserved control of tissue-specific biological pathways.Gene regulationHaemophilia B: database of point mutations and short additions and deletionsIdentification of hepatic nuclear factor 1 binding sites in the 5' flanking region of the human phenylalanine hydroxylase gene: implication of a dual function of phenylalanine hydroxylase stimulator in the phenylalanine hydroxylation system.Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodemaDisruption of the LF-A1 and LF-B1 binding sites in the human alpha-1-antitrypsin gene has a differential effect during development in transgenic mice.Haemophilia B: Christmas disease.Binding of the Ets factor GA-binding protein to an upstream site in the factor IX promoter is a critical event in transactivationIdentification of regulatory sequences and protein-binding sites in the liver-type promoter of a gene encoding 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase.trans activation of human alcohol dehydrogenase gene expression in hepatoma cells by C/EBP molecules bound in a novel arrangement just 5' and 3' to the TATA box.Two adjacent C/EBP-binding sequences that participate in the cell-specific expression of the mouse serum amyloid A3 gene.Molecular analysis of the differential hepatic expression of rat kininogen family genesA C/EBP-binding site in the transferrin promoter is essential for expression in the liver but not the brain of transgenic mice.An "attenuator domain" is sandwiched by two distinct transactivation domains in the transcription factor C/EBP.Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden.An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B LeydenN-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics.Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites.Orphan nuclear receptor HNF-4 binds to the human coagulation factor VII promoter.The liver-specific promoter of the human insulin-like growth factor II gene is activated by CCAAT/enhancer binding protein (C/EBP).Characterization of transcriptional regulatory elements in the promoter region of the murine blood coagulation factor VII gene.Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII geneRole of the liver-enriched transcription factor hepatocyte nuclear factor 1 in transcriptional regulation of the factor V111 gene.The HNF1/HNF4-dependent We2 element of woodchuck hepatitis virus controls viral replication and can activate the N-myc2 promoter.
P2860
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P2860
Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.
description
1990 nî lūn-bûn
@nan
1990 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Disruption of a C/EBP binding ...... associated with haemophilia B.
@ast
Disruption of a C/EBP binding ...... associated with haemophilia B.
@en
Disruption of a C/EBP binding ...... associated with haemophilia B.
@nl
type
label
Disruption of a C/EBP binding ...... associated with haemophilia B.
@ast
Disruption of a C/EBP binding ...... associated with haemophilia B.
@en
Disruption of a C/EBP binding ...... associated with haemophilia B.
@nl
prefLabel
Disruption of a C/EBP binding ...... associated with haemophilia B.
@ast
Disruption of a C/EBP binding ...... associated with haemophilia B.
@en
Disruption of a C/EBP binding ...... associated with haemophilia B.
@nl
P921
P356
P1433
P1476
Disruption of a C/EBP binding ...... associated with haemophilia B.
@en
P2093
Brownlee GG
Crossley M
P2888
P304
P356
10.1038/345444A0
P407
P577
1990-05-01T00:00:00Z
P6179
1007915956