(Q34523117)

English

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations

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scholarly article

1 reference

Europe PubMed Central

2 August 2017

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations (English)

1 reference

Europe PubMed Central

2 August 2017

0 references

connective tissue

1 reference

based on heuristic

inferred from title

Flemming Skovby

8

object named as

Flemming Skovby

0 references

author name string

Kenneth N Maclean

1

1 reference

Europe PubMed Central

2 August 2017

Mette Gaustadnes

2

1 reference

Europe PubMed Central

2 August 2017

Jana Oliveriusová

3

1 reference

Europe PubMed Central

2 August 2017

Miroslav Janosík

4

1 reference

Europe PubMed Central

2 August 2017

Eva Kraus

5

1 reference

Europe PubMed Central

2 August 2017

Viktor Kozich

6

1 reference

Europe PubMed Central

2 August 2017

Vladimír Kery

7

1 reference

Europe PubMed Central

2 August 2017

Niels Rüdiger

9

1 reference

Europe PubMed Central

2 August 2017

Jørgen Ingerslev

10

1 reference

Europe PubMed Central

2 August 2017

Sally P Stabler

11

1 reference

Europe PubMed Central

2 August 2017

Robert H Allen

12

1 reference

Europe PubMed Central

2 August 2017

Jan P Kraus

13

1 reference

Europe PubMed Central

2 August 2017

publication date

1 June 2002

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

19

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Europe PubMed Central

2 August 2017

6

1 reference

Europe PubMed Central

2 August 2017

641-655

1 reference

Europe PubMed Central

2 August 2017

Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

The structure of a domain common to archaebacteria and the homocystinuria disease protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

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://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Endothelial dysfunction in a murine model of mild hyperhomocyst(e)inemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Requirement of the human chromosome 11 long arm for replication of herpes simplex virus type 1 in nonpermissive Chinese hamster x human diploid fibroblast hybrids

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Cystathionine synthase activity in human lymphocytes: induction by phytohemagglutinin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Ethanol feeding of micropigs alters methionine metabolism and increases hepatocellular apoptosis and proliferation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Cystathionine beta-synthase mutations in homocystinuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Vascular dysfunction in monkeys with diet-induced hyperhomocyst(e)inemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Spatial and temporal expression of the cystathionine beta-synthase gene during early human development.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Correction of disease-causing CBS mutations in yeast

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Activation of cystathionine synthase by adenosylmethionine and adenosylethionine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Effect of trypsin, S-adenosylmethionine and ethionine on L-serine sulfhydrase activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Cystathionine beta-synthase (human)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Transsulfuration in Saccharomyces cerevisiae is not dependent on heme: purification and characterization of recombinant yeast cystathionine beta-synthase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Detection of c-type cytochromes using enhanced chemiluminescence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

21 January 2018

Replicative senescence of human fibroblast-like cells in culture

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

7 January 2021

based on heuristic

inferred from DOI database lookup

Homocysteine and endothelial dysfunction: a link with cardiovascular disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10089

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10089

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

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