(Q38236392)

31 August 2017

Hyperhomocysteinemia: related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues (English)

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31 August 2017

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Vittoria Infantino

2

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Vito Iacobazzi

object named as

Vito Iacobazzi

series ordinal

1

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author name string

Alessandra Castegna

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3

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PubMed ID

25087163

31 August 2017

Generoso Andria

series ordinal

4

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31 August 2017

21 July 2014

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Molecular Genetics and Metabolism

31 August 2017

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31 August 2017

113

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31 August 2017

27-33

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31 August 2017

1-2

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Roles of homocysteine in cell metabolism: old and new functions.

31 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Methionine metabolism in mammals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Pathways and regulation of homocysteine metabolism in mammals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Effects of serum B vitamins on elevated plasma homocysteine levels associated with the mutation of methylenetetrahydrofolate reductase gene in Japanese

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Homocysteine and coronary atherosclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Plasma homocysteine as a risk factor for dementia and Alzheimer's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Serum total homocysteine increases with the rapid proliferation rate of tumor cells and decline upon cell death: a potential new tumor marker

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

The effect of folic acid fortification on plasma folate and total homocysteine concentrations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Plasma homocysteine levels and mortality in patients with coronary artery disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Renal insufficiency, vitamin B(12) status, and population attributable risk for mild hyperhomocysteinemia among coronary artery disease patients in the era of folic acid-fortified cereal grain flour

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Hyperhomocysteinemia, endoplasmic reticulum stress, and alcoholic liver injury

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Vitamin B12 status in the elderly as judged by available biochemical markers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Epigenetic regulation by histone methylation and histone variants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Methylation of the promoter A of estrogen receptor alpha gene in hBMSC and osteoblasts and its correlation with homocysteine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Plasma total homocysteine is associated with DNA methylation in patients with schizophrenia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

The potential role of homocysteine mediated DNA methylation and associated epigenetic changes in abdominal aortic aneurysm formation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Quantitative, high-resolution epigenetic profiling of CpG loci identifies associations with cord blood plasma homocysteine and birth weight in humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Epigenome-wide profiling identifies significant differences in DNA methylation between matched-pairs of T- and B-lymphocytes from healthy individuals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Homocysteine metabolism in children with Down syndrome: in vitro modulation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Integrity of the methylation cycle is essential for mammalian neural tube closure.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Effects of methionine on the cytoplasmic distribution of actin and tubulin during neural tube closure in rat embryos

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Neural tube defects and maternal biomarkers of folate, homocysteine, and glutathione metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Epigenetic profiles in children with a neural tube defect; a case-control study in two populations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Relation between hypomethylation of long interspersed nucleotide elements and risk of neural tube defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Altered methylation of the DNA repair gene MGMT is associated with neural tube defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Differential regulation of DNA methylation versus histone acetylation in cardiomyocytes during HHcy in vitro and in vivo: an epigenetic mechanism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Changes in homocysteine levels during normal pregnancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

The methyl donor S-Adenosylmethionine inhibits active demethylation of DNA: a candidate novel mechanism for the pharmacological effects of S-Adenosylmethionine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Targeted disruption of the methionine synthase gene in mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Homocysteine metabolism in cardiovascular cells and tissues: implications for hyperhomocysteinemia and cardiovascular disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Next-generation community genetics for low- and middle-income countries

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Non-invasive prenatal diagnosis of single-gene disorders from maternal blood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Genomics in newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Presence of fetal DNA in maternal plasma and serum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Universal screening for inherited metabolic diseases in the neonate (and the fetus).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

The Human Genome Organisation: towards next-generation ethics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia (> or = 40 micromol/liter). The Hordaland Homocysteine Study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.016

10.1016/J.YMGME.2014.07.016

7 January 2021

Identifiers

DOI

1 reference

31 August 2017

1 reference

PubMed ID

25087163