(Q34361452)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882353%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

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

1 reference

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14 February 2020

2

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14 February 2020

author name string

Erin M Coffee

series ordinal

1

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14 February 2020

publication date

30 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882353%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

14 February 2020

published in

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14 February 2020

volume

33

1 reference

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14 February 2020

issue

6

1 reference

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14 February 2020

page(s)

715-725

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describes a project that uses

14 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2993836/fullTextXML

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1007/s10545-010-9192-5

0 references

cites work

Quantitative gene expression profiles in real time from expressed sequence tag databases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

Alternative splicing resulting in nonsense-mediated mRNA decay: what is the meaning of nonsense?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

Protein synthesis in eukaryotes: the growing biological relevance of cap-independent translation initiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

Pre-mRNA splicing and human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

Characterization of the aldolase B intronic enhancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

Iatrogenic deaths in hereditary fructose intolerance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

Recent trends in carbohydrate consumption

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

Characterization of the human aldolase B gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

Partial aldolase B gene deletions in hereditary fructose intolerance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

Hereditary fructose intolerance: A difficult diagnosis in the adult

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2993836

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

27 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

[Anomaly of hepatic aldolase in intolerance to fructose.]

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

Hereditary fructose intolerance

1 reference

12 December 2020

Effects of high dietary sugar

1 reference

12 December 2020

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

1 reference

12 December 2020

The diagnosis of hereditary fructose intolerance

1 reference

12 December 2020

10.1007/S10545-010-9192-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882353%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

14 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882353%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

PubMed publication ID

20882353

1 reference