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Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. (Q37357375)

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scientific article published on July 1996

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English	Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.	scientific article published on July 1996

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18 October 2019

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient (English)

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18 October 2019

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1 reference

based on heuristic

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based on heuristic

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8

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18 October 2019

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Kluijtmans LA

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18 October 2019

Boers GH

2

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18 October 2019

Stevens EM

3

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18 October 2019

Renier WO

4

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18 October 2019

Kraus JP

5

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18 October 2019

Trijbels FJ

6

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18 October 2019

van den Heuvel LP

7

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18 October 2019

publication date

1 July 1996

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18 October 2019

language of work or name

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Journal of Clinical Investigation

1 reference

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18 October 2019

98

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18 October 2019

2

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18 October 2019

285-289

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18 October 2019

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes

1 reference

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6 September 2017

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

Komrower Lecture. Molecular basis of phenotype expression in homocystinuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells

1 reference

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6 September 2017

Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia

1 reference

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6 September 2017

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

Homocystinuria: Studies in Tissue Culture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

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6 September 2017

DNA sequences of the cysK regions of Salmonella typhimurium and Escherichia coli and linkage of the cysK regions to ptsH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

The pathogenesis of homocysteinemia: interruption of the coordinate regulation by S-adenosylmethionine of the remethylation and transsulfuration of homocysteine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

6 September 2017

Expression of human cystathionine beta-synthase in Escherichia coli: purification and characterization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

26 June 2018

Rat cystathionine beta-synthase. Gene organization and alternative splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

26 June 2018

Rat cystathionine beta-synthase: expression of four alternatively spliced isoforms in transfected cultured cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

26 June 2018

Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

2 September 2018

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

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Three different methods for the determination of total homocysteine in plasma

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755636

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755636

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation of cystathionine synthase by adenosylmethionine and adenosylethionine

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755636

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylenetetrahydrofolate reductase in cultured human cells. I. Growtha and metabolic studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755636

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755636

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI118791

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755636%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755636%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755636%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

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