(Q33390011)

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Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532821%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532821%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Andrea K Lawrance

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532821%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Pierre Lachapelle

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532821%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

6

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Rima Rozen

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532821%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

author name string

Julie Racine

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532821%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Liyuan Deng

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532821%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Xiaoling Wang

4

1 reference

Europe PubMed Central

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5 February 2020

publication date

8 June 2010

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532821%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532821%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

34

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20532821%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1

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Europe PubMed Central

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5 February 2020

147-157

1 reference

Europe PubMed Central

PubMed publication ID

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5 February 2020

https://scigraph.springernature.com/pub.10.1007/s10545-010-9127-1

0 references

Disturbed visual system function in methionine synthase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperhomocysteinemia induced by folic acid deficiency and methionine load--applications of a modified HPLC method

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impact of Dnmt1 deficiency, with and without low folate diets, on tumor numbers and DNA methylation in Min mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperhomocysteinemia and retinal vascular changes in patients with epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apoptotic cell death in the mouse retinal ganglion cell layer is induced in vivo by the excitatory amino acid homocysteine

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal thrombocytopenia: what we do and don't know

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional and structural changes resulting from strain differences in the rat model of oxygen-induced retinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infertility in 5,10-methylenetetrahydrofolate reductase (MTHFR)-deficient male mice is partially alleviated by lifetime dietary betaine supplementation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Strain differences in mice highlight the role of DNA damage in neoplasia induced by low dietary folate

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of folate receptor alpha in the mammalian retinol pigmented epithelium and retina

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-term hyperhomocysteinemia-induced oxidative stress activates retinal glial cells and increases vascular endothelial growth factor expression in rat retina

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homocysteine and venous thrombosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Moderate hyperhomocysteinemia and early-onset central retinal vein occlusion.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolate reductase

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mice deficient in methylenetetrahydrofolate reductase exhibit tissue-specific distribution of folates

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphisms in the methylenetetrahydrofolate reductase gene: clinical consequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal methylenetetrahydrofolate reductase deficiency and low dietary folate lead to adverse reproductive outcomes and congenital heart defects in mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperhomocysteinemia, pregnancy complications, and the timing of investigation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homocysteine activates platelets in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homocysteine toxicity in organotypic cultures of rat retina.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylenetetrahydrofolate reductase deficiency and low dietary folate increase embryonic delay and placental abnormalities in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural and functional maturation of the retina of the albino Hartley guinea pig.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification, kinetic properties, and cDNA cloning of mammalian betaine-homocysteine methyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurotoxicity associated with dual actions of homocysteine at the N-methyl-D-aspartate receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The optic nerve

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homocysteinemia is inversely correlated with platelet count and directly correlated with sE- and sP-selectin levels in females homozygous for C677T methylenetetrahydrofolate reductase.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intraocular gene transfer of ciliary neurotrophic factor prevents death and increases responsiveness of rod photoreceptors in the retinal degeneration slow mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/20532821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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