Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. (Q34361452)

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14 February 2020

title

Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance (English)

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2

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author name string

Erin M Coffee

series ordinal

1

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publication date

30 September 2010

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Journal of Inherited Metabolic Disease

14 February 2020

published in

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volume

33

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issue

6

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page(s)

715-725

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describes a project that uses

14 February 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

cites work

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Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population

6 July 2018

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Identification of conserved promoter elements for aldB and isozyme specific residues in aldolase B.

6 July 2018

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Characterization of the aldolase B intronic enhancer

6 July 2018

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Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population

6 July 2018

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A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.

6 July 2018

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Competition between transcription factors HNF1 and HNF3, and alternative cell-specific activation by DBP and C/EBP contribute to the regulation of the liver-specific aldolase B promoter

6 July 2018

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Iatrogenic deaths in hereditary fructose intolerance

6 July 2018

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Activity of the rat liver-specific aldolase B promoter is restrained by HNF3.

6 July 2018

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Null alleles of the aldolase B gene in patients with hereditary fructose intolerance

6 July 2018

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A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia

6 July 2018

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Transcription factors and aldolase B gene expression in microdissected renal proximal tubules and derived cell lines

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Recent trends in carbohydrate consumption

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Characterization of the human aldolase B gene

6 July 2018

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

6 July 2018

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Developmental appearance of transcription factors that regulate liver-specific expression of the aldolase B gene

6 July 2018

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Partial aldolase B gene deletions in hereditary fructose intolerance

6 July 2018

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Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.

6 July 2018

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Interplay of an original combination of factors: C/EBP, NFY, HNF3, and HNF1 in the rat aldolase B gene promoter

6 July 2018

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Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance

6 July 2018

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

6 July 2018

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Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases

6 July 2018

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Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients

6 July 2018

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Hereditary fructose intolerance: A difficult diagnosis in the adult

6 July 2018

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The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

6 July 2018

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Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

27 October 2018

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The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance

27 October 2018

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Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene

27 October 2018

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Expression of the rat aldolase B gene: a liver-specific proximal promoter and an intronic activator

27 October 2018

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12 December 2020

Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase

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12 December 2020

A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand

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12 December 2020

Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion

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12 December 2020

Characterization of recombinant human aldolase B and purification by metal chelate chromatography

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12 December 2020

[Anomaly of hepatic aldolase in intolerance to fructose.]

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12 December 2020

Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans

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12 December 2020

An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children

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12 December 2020

Hereditary fructose intolerance

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12 December 2020

Effects of high dietary sugar

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12 December 2020

Ubiquitous factors that interact simultaneously with two distinct cis-elements on the rat aldolase B gene promoter

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12 December 2020

The diagnosis of hereditary fructose intolerance

1 reference

12 December 2020

10.1007/S10545-010-9192-5

Identifiers

DOI

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Dimensions Publication ID

14 February 2020

0 references

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PubMed publication ID

20882353

1 reference