(Q79774761)

English

The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study

scientific article published on 03 November 2008

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979178%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979178%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Carlos Reguenga

3

1 reference

Europe PubMed Central

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25 December 2019

Filipa Carvalho

4

1 reference

Europe PubMed Central

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25 December 2019

author name string

J P Oliveira

1

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25 December 2019

S Ferreira

2

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25 December 2019

J-E Månsson

5

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25 December 2019

publication date

3 November 2008

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25 December 2019

Journal of Inherited Metabolic Disease

1 reference

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25 December 2019

31 Suppl 2

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25 December 2019

S405-13

1 reference

Europe PubMed Central

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25 December 2019

https://scigraph.springernature.com/pub.10.1007/s10545-008-0972-0

0 references

Sequence variations in the first exon of alpha-galactosidase A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

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Genetics and ischaemic stroke

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

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Tissue specificity of X-chromosome inactivation patterns

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

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High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

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An efficient salt-chloroform extraction of DNA from blood and tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

White matter lesion severity in male and female patients with Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Investigation of risk factors in children with arterial ischemic stroke

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cerebral vasculopathy of Fabry disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increasing binding of a transcription factor immediately downstream of the cap site of a cytomegalovirus gene represses expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replacement Therapy for Inherited Enzyme Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human methylated DNA-binding protein. Determinants of a pBR322 recognition site

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The assay of sphingolipid hydrolases in white blood cells with labelled natural substrates

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Related sites in human and herpesvirus DNA recognized by methylated DNA-binding protein from human placenta

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Binding sites in mammalian genes and viral gene regulatory regions recognized by methylated DNA-binding protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Internet resources for the functional analysis of 5′ and 3′ untranslated regions of eukaryotic mRNAs

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural features in eukaryotic mRNAs that modulate the initiation of translation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebrovascular complications of Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incorporating chemical modification constraints into a dynamic programming algorithm for prediction of RNA secondary structure

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interpretation of X-chromosome inactivation patterns

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The implications of structured 5' untranslated regions on translation and disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: diagnosis and management, with emphasis on the renal manifestations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A human DNA-binding protein is methylation-specific and sequence-specific

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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