(Q36596731)

English

A functional variant in the cystathionine β-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population.

scientific article published on 18 September 2012

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scholarly article

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13 February 2020

A functional variant in the cystathionine β-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population (English)

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13 February 2020

congenital disorder

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congenital heart disease

1 reference

based on heuristic

inferred from title

1

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13 February 2020

author name string

Xue-Yan Yang

2

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13 February 2020

Kai-Hu Shi

3

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13 February 2020

Shu-Na Sun

4

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13 February 2020

Jia Hou

5

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13 February 2020

Zhi-Zhou Ye

6

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13 February 2020

Jue Wang

7

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13 February 2020

Wen-Yuan Duan

8

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13 February 2020

Bin Qiao

9

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13 February 2020

Yi-Jiang Chen

10

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13 February 2020

Hong-Bing Shen

11

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13 February 2020

Guo-Ying Huang

12

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13 February 2020

Li Jin

13

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13 February 2020

Hong-Yan Wang

14

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13 February 2020

publication date

18 September 2012

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13 February 2020

1 reference

Europe PubMed Central

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13 February 2020

23

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13 February 2020

242-253

1 reference

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13 February 2020

Genetic polymorphisms of the TYMS gene are not associated with congenital cardiac septal defects in a Han Chinese population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Genetic analysis of Down syndrome-associated heart defects in mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Teratogenicity and underlying mechanisms of homocysteine in animal models: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Down syndrome: a cardiovascular perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Unbiased mapping of transcription factor binding sites along human chromosomes 21 and 22 points to widespread regulation of noncoding RNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Homocysteine metabolism in children with Down syndrome: in vitro modulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

The metabolism of homocysteine: pathways and regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

9 September 2017

A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

28 June 2018

Genomic determination of the glucocorticoid response reveals unexpected mechanisms of gene regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

28 June 2018

Homocysteine and related genetic polymorphisms in Down's syndrome IQ.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

28 June 2018

Functional variant in methionine synthase reductase intron-1 significantly increases the risk of congenital heart disease in the Han Chinese population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

Homocysteine and oxidative stress in Egyptian children with Down syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

Relationship between polymorphism of cystathionine beta synthase gene and congenital heart disease in Chinese nuclear families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

Does Down's syndrome support the homocysteine theory of atherogenesis? Experience in elderly subjects with trisomy 21.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

Modulation of cystathionine beta-synthase level regulates total serum homocysteine in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

Expression of the cystathionine beta synthase (CBS) gene during mouse development and immunolocalization in adult brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

Congenital heart defects and maternal derangement of homocysteine metabolism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567826

20 September 2018

Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/22986502

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/22986502

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Occurrence of congenital heart defects in relation to maternal mulitivitamin use

1 reference

https://pubmed.ncbi.nlm.nih.gov/22986502

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/22986502

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/CR.2012.135

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13 February 2020

PMC publication ID

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Europe PubMed Central

PMC publication ID

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13 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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13 February 2020

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