(Q33421138)

26 July 2017

title

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

1 reference

26 July 2017

Young-Han Song

5

0 references

author name string

Hyung-Doo Park

1

1 reference

26 July 2017

Yoon-Kyoung Kim

2

1 reference

26 July 2017

Kyoung Un Park

3

1 reference

26 July 2017

Jin Q Kim

4

1 reference

26 July 2017

Junghan Song

6

1 reference

26 July 2017

publication date

24 March 2009

1 reference

26 July 2017

1 reference

26 July 2017

volume

10

1 reference

26 July 2017

page(s)

29

1 reference

describes a project that uses

26 July 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2667498/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Pathophysiology of impaired ovarian function in galactosaemia

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667498

MatInspector and beyond: promoter analysis based on transcription factor binding sites

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667498

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667498

Running-buffer composition influences DNA-protein and protein-protein complexes detected by electrophoretic mobility-shift assay (EMSA).

28 July 2018

1 reference

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Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667498

Novel mutations in the GALK1 gene in patients with galactokinase deficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667498

Novel mutations in 13 probands with galactokinase deficiency.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667498

Molecular characterization of galactokinase deficiency in Japanese patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667498

Molecular basis for Duarte and Los Angeles variant galactosemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667498

Fine structure of the human galactokinase GALK1 gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667498

Direct molecular analysis of archival tumor tissue for loss of heterozygosity.

28 July 2018

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Multiple positive and negative regulatory elements in the promoter of the mouse homeobox gene Hoxb-4.

28 July 2018

1 reference

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Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667498

Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging

28 July 2018

1 reference

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A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-29

Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.

21 January 2018

1 reference

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Developmental regulation of galactokinase in suckling mouse liver by the Egr-1 transcription factor

21 January 2018

1 reference

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The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients

21 January 2018

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Large-scale molecular screening for galactosemia alleles in a pan-ethnic population

21 January 2018

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Quenching accumulation of toxic galactose-1-phosphate as a system to select disruption of protein-protein interactions in vivo

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667498

Biochemical properties of human red cell galactose-1-phosphate uridyl transferase (UDP glucose: alpha-D-galactose-1-phosphate uridyltransferase E.C.2.7.7.12) from normal and mutant subjects

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19309526

12 December 2020

inferred from PubMed ID database lookup

Galactose metabolism in the newborn infant

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19309526

12 December 2020

inferred from PubMed ID database lookup

Galactose-1-phosphate in galactosemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19309526

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1186/1471-2350-10-29

1 reference

Dimensions Publication ID

26 July 2017

0 references

1 reference

26 July 2017

1 reference