A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.
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The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical regionA tale of three fingers: the family of mammalian Sp/XKLF transcription factorsBlood pressure loci identified with a gene-centric arrayNeedles in the genetic haystack of lipid disorders: single nucleotide polymorphisms in the microRNA regulomeUroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyriaDivergent pathways in COS-7 cells mediate defective internalization and intracellular routing of truncated G-CSFR forms in SCN/AMLIdentification of polymorphic antioxidant response elements in the human genome.Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.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.Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group.Bulk segregant RNA-seq reveals expression and positional candidate genes and allele-specific expression for disease resistance against enteric septicemia of catfish.Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptorCommon genetic variation in the promoter of the human apo CIII gene abolishes regulation by insulin and may contribute to hypertriglyceridemia.Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodemaTwo types of zinc fingers are required for dimerization of the serendipity delta transcriptional activator.Transcriptional regulation of the gene coding for human protein C.The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologiesRegulatory 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.Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII geneCharacterization of cell-specific modulatory element in the murine ornithine decarboxylase promoter.Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.Software and database for the analysis of mutations in the human LDL receptor gene.A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia.The molecular basis for genetic polymorphism of human deoxyribonuclease II (DNase II): a single nucleotide substitution in the promoter region of human DNase II changes the promoter activity.Human V-ATPase gene can protect or predispose the host to pulmonary tuberculosis.
P2860
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P2860
A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
A single-base substitution in ...... familial hypercholesterolemia.
@ast
A single-base substitution in ...... familial hypercholesterolemia.
@en
type
label
A single-base substitution in ...... familial hypercholesterolemia.
@ast
A single-base substitution in ...... familial hypercholesterolemia.
@en
prefLabel
A single-base substitution in ...... familial hypercholesterolemia.
@ast
A single-base substitution in ...... familial hypercholesterolemia.
@en
P2093
P2860
P356
P1476
A single-base substitution in ...... familial hypercholesterolemia.
@en
P2093
P2860
P304
10526-10530
P356
10.1073/PNAS.91.22.10526
P407
P577
1994-10-01T00:00:00Z