A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria

A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria

Item
http://www.wikidata.org/entity/Q24799321
MDM2 negatively regulates the human telomerase RNA gene promoterIt all comes together at the ends: telomerase structure, function, and biogenesisTranscriptional activation of TINF2, a gene encoding the telomere-associated protein TIN2, by Sp1 and NF-κB factorsIncreased expression of colonic Wnt9A through Sp1-mediated transcriptional effects involving arylsulfatase B, chondroitin 4-sulfate, and galectin-3Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.Genetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies.Telomere-regulating genes and the telomere interactome in familial cancers.Identification of degenerate motifs using position restricted selection and hybrid ranking combination.Human telomere disease due to disruption of the CCAAT box of the TERC promoter.Human diseases of telomerase dysfunction: insights into tissue aging.Dyskeratosis congenita, stem cells and telomeres.Telomere dysfunction in human diseases: the long and short of it!Functional characterization of mutations in the promoter proximal region of the telomerase hTERC gene identified in patients with hematological disorders.
P2860

A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria

Item
http://www.wikidata.org/entity/Q24799321
description
2004 nî lūn-bûn
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2004 թուականի Յունիսին հրատարակուած գիտական յօդուած
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2004 թվականի հունիսին հրատարակված գիտական հոդված
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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A mutation in a functional Sp1 ...... smal Nocturnal Haemoglobinuria
@ast
A mutation in a functional Sp1 ...... smal Nocturnal Haemoglobinuria
@en
A mutation in a functional Sp1 ...... smal Nocturnal Haemoglobinuria
@nl
type
label
A mutation in a functional Sp1 ...... smal Nocturnal Haemoglobinuria
@ast
A mutation in a functional Sp1 ...... smal Nocturnal Haemoglobinuria
@en
A mutation in a functional Sp1 ...... smal Nocturnal Haemoglobinuria
@nl
prefLabel
A mutation in a functional Sp1 ...... smal Nocturnal Haemoglobinuria
@ast
A mutation in a functional Sp1 ...... smal Nocturnal Haemoglobinuria
@en
A mutation in a functional Sp1 ...... smal Nocturnal Haemoglobinuria
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P921
P932
P356
P1433
P1476
A mutation in a functional Sp1 ...... smal Nocturnal Haemoglobinuria
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P921
P932