| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Nafisa M Jadavji, Liyuan Deng, Daniel Leclerc, Olga Malysheva, Barry J Bedell, Marie A Caudill, Rima Roze. Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus. Molecular genetics and metabolism. vol 106. issue 2. 2012-09-18. PMID:22521626. |
neurological disturbances have been described in homocystinuria caused by severe mthfr deficiency. |
2012-09-18 |
2023-08-12 |
mouse |
| Andrea K Lawrance, Julie Racine, Liyuan Deng, Xiaoling Wang, Pierre Lachapelle, Rima Roze. Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes. Journal of inherited metabolic disease. vol 34. issue 1. 2011-05-12. PMID:20532821. |
severe deficiency of methylenetetrahydrofolate reductase (mthfr) with homocystinuria can result in early demise or later-onset neurological impairment, including developmental delay, motor dysfunction, and seizures. |
2011-05-12 |
2023-08-12 |
mouse |
| Andrea K Lawrance, Julie Racine, Liyuan Deng, Xiaoling Wang, Pierre Lachapelle, Rima Roze. Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes. Journal of inherited metabolic disease. vol 34. issue 1. 2011-05-12. PMID:20532821. |
in addition, our novel findings of decreased spleen weights, thrombocytopenia, and impaired retinal function warrant investigation in patients with severe mthfr deficiency or other forms of homocystinuria. |
2011-05-12 |
2023-08-12 |
mouse |
| R Urreizti, A A Moya-García, A Pino-Ángeles, M Cozar, A Langkilde, U Fanhoe, C Esteves, J Arribas, M A Vilaseca, B Pérez-Dueñas, M Pineda, V González, R Artuch, A Baldellou, L Vilarinho, B Fowler, A Ribes, F Sánchez-Jiménez, D Grinberg, S Balcell. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. Clinical genetics. vol 78. issue 5. 2011-02-17. PMID:20236116. |
five patients suspected of having non-classical homocystinuria due to mthfr deficiency were examined with respect to their symptoms, mthfr enzyme activity and genotypes of the mthfr gene. |
2011-02-17 |
2023-08-12 |
Not clear |
| Thierry Forges, Céline Chery, Sandra Audonnet, François Feillet, Jean-Louis Guean. Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients. Molecular genetics and metabolism. vol 100. issue 2. 2010-08-09. PMID:20356773. |
severe mthfr deficiency is a rare recessive disease leading to major hyperhomocysteinemia, homocystinuria, and progressive neurological distress within the two first decades of life. |
2010-08-09 |
2023-08-12 |
Not clear |
| Lisa Bishop, Richard Kanoff, Lawrence Charnas, Charles Krenzel, Susan A Berry, Lisa A Schimment. Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. Journal of child neurology. vol 23. issue 7. 2008-10-15. PMID:18658082. |
severe methylenetetrahydrofolate reductase (mthfr) deficiency: a case report of nonclassical homocystinuria. |
2008-10-15 |
2023-08-12 |
Not clear |
| D Li, N Karp, Q Wu, X-L Wang, S Melnyk, S J James, R Roze. Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency. Journal of inherited metabolic disease. vol 31. issue 3. 2008-09-09. PMID:18415702. |
severe deficiency of methylenetetrahydrofolate reductase (mthfr) results in homocystinuria, with a variety of neurological and vascular complications, and sometimes death in the first year of life. |
2008-09-09 |
2023-08-12 |
mouse |
| T Rummel, T Suormala, J Häberle, H G Koch, C Berning, D Perrett, B Fowle. Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation. Journal of inherited metabolic disease. vol 30. issue 3. 2007-08-17. PMID:17457696. |
mthfr deficiency, an autosomal recessive disorder, results in homocystinuria and hypomethioninaemia and presents with highly variable symptoms affecting many organs but predominantly the central nervous system. |
2007-08-17 |
2023-08-12 |
human |
| Daniel Leclerc, Rima Roze. [Molecular genetics of MTHFR: polymorphisms are not all benign]. Medecine sciences : M/S. vol 23. issue 3. 2007-06-20. PMID:17349292. |
research performed during the past decade has clarified our understanding of mthfr deficiencies that cause homocystinuria or mild hyperhomocysteinemia. |
2007-06-20 |
2023-08-12 |
mouse |
| Daniel Leclerc, Rima Roze. [Molecular genetics of MTHFR: polymorphisms are not all benign]. Medecine sciences : M/S. vol 23. issue 3. 2007-06-20. PMID:17349292. |
our cloning of the mthfr coding sequence was initially followed by the identification of the first deleterious mutations in mthfr, in patients with homocystinuria and marked hyperhomocysteinemia. |
2007-06-20 |
2023-08-12 |
mouse |
| M Dikmen, D Ozbabalik, H V Gunes, I Degirmenci, C Bal, G Ozdemir, A Basara. Acute stroke in relation to homocysteine and methylenetetrahydrofolate reductase gene polymorphisms. Acta neurologica Scandinavica. vol 113. issue 5. 2006-06-28. PMID:16629766. |
some methylenetetrahydrofolate reductase (mthfr) gene mutations cause hyperhomocysteinemia and homocystinuria. |
2006-06-28 |
2023-08-12 |
Not clear |
| Bernd C Schwahn, Maurice D Laryea, Zhoutao Chen, Stepan Melnyk, Igor Pogribny, Timothy Garrow, S Jill James, Rima Roze. Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. The Biochemical journal. vol 382. issue Pt 3. 2005-03-07. PMID:15217352. |
a severe deficiency of mthfr results in hyperhomocysteinaemia and homocystinuria. |
2005-03-07 |
2023-08-12 |
mouse |
| Bernd C Schwahn, Maurice D Laryea, Zhoutao Chen, Stepan Melnyk, Igor Pogribny, Timothy Garrow, S Jill James, Rima Roze. Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. The Biochemical journal. vol 382. issue Pt 3. 2005-03-07. PMID:15217352. |
mice with a complete knockout of mthfr serve as a good animal model for homocystinuria; early postnatal death of these mice is common, as with some neonates with low residual mthfr activity. |
2005-03-07 |
2023-08-12 |
mouse |
| Bernd C Schwahn, Maurice D Laryea, Zhoutao Chen, Stepan Melnyk, Igor Pogribny, Timothy Garrow, S Jill James, Rima Roze. Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. The Biochemical journal. vol 382. issue Pt 3. 2005-03-07. PMID:15217352. |
the dramatic effects of betaine on survival and growth, and the partial reversibility of the biochemical and developmental anomalies in the brains of mthfr-deficient mice, emphasize an important role for choline and betaine depletion in the pathogenesis of homocystinuria due to mthfr deficiency. |
2005-03-07 |
2023-08-12 |
mouse |
| Sahar Sibani, Daniel Leclerc, Ilan S Weisberg, Erin O'Ferrall, David Watkins, Carmen Artigas, David S Rosenblatt, Rima Roze. Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation. Human mutation. vol 21. issue 5. 2003-04-25. PMID:12673793. |
severe mthfr deficiency results in marked hyperhomocysteinemia and homocystinuria. |
2003-04-25 |
2023-08-12 |
human |
| M Baethmann, U Wendel, G F Hoffmann, G Göhlich-Ratmann, B Kleinlein, P Seiffert, H Blom, T Voi. Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. Neuropediatrics. vol 31. issue 6. 2001-08-30. PMID:11508552. |
hydrocephalus internus requiring neurosurgical intervention has to our knowledge not been reported as a presenting feature of homocystinuria due to deficiency of mthfr so far. |
2001-08-30 |
2023-08-12 |
Not clear |
| Z Chen, A C Karaplis, S L Ackerman, I P Pogribny, S Melnyk, S Lussier-Cacan, M F Chen, A Pai, S W John, R S Smith, T Bottiglieri, P Bagley, J Selhub, M A Rudnicki, S J James, R Roze. Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Human molecular genetics. vol 10. issue 5. 2001-06-14. PMID:11181567. |
severe mthfr deficiency results in homocystinuria, an inborn error of metabolism with neurological and vascular complications. |
2001-06-14 |
2023-08-12 |
mouse |
| A Homberger, M Linnebank, C Winter, H Willenbring, T Marquardt, E Harms, H G Koc. Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene. European journal of human genetics : EJHG. vol 8. issue 9. 2000-10-12. PMID:10980581. |
different mthfr mutations lead either to severe homocystinuria as a multisystem disorder or to moderate hyperhomocysteinaemia, which is a common risk factor for disorders ranging from cardiovasculopathy to spina bifida. |
2000-10-12 |
2023-08-12 |
human |
| A Homberger, M Linnebank, C Winter, H Willenbring, T Marquardt, E Harms, H G Koc. Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene. European journal of human genetics : EJHG. vol 8. issue 9. 2000-10-12. PMID:10980581. |
the results of our study render the full-length characterisation of affected alleles in severe homocystinuria and moderate hyperhomocysteinaemia due to mthfr deficiency and provide a basis for investigating the regulation of the human mthfr gene. |
2000-10-12 |
2023-08-12 |
human |
| P Goyette, R Roze. The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase. Human mutation. vol 16. issue 2. 2000-09-19. PMID:10923034. |
severe mthfr deficiency is associated with hyperhomocysteinemia and homocystinuria. |
2000-09-19 |
2023-08-12 |
human |