MTRR (gene) (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "MTRR (gene)" in English language version.

refsWebsite

Global rank English rank

51nih.gov

4^th place

30doi.org

2^nd place

9semanticscholar.org

11^th place

8^th place

2ensembl.org

1,626^th place

1,007^th place

2harvard.edu

18^th place

17^th place

1uniprot.org

5,673^rd place

6,418^th place

1worldcat.org

5^th place

doi.org

Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA (March 1998). "Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria". Proceedings of the National Academy of Sciences of the United States of America. 95 (6): 3059–64. Bibcode:1998PNAS...95.3059L. doi:10.1073/pnas.95.6.3059. PMC 19694. PMID 9501215.
van der Linden IJ, den Heijer M, Afman LA, Gellekink H, Vermeulen SH, Kluijtmans LA, Blom HJ (December 2006). "The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida". Journal of Molecular Medicine. 84 (12): 1047–54. doi:10.1007/s00109-006-0093-x. PMID 17024475. S2CID 24500664.
Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, Lu X, Liu L, Miao X, Xiong G (2013). "Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature". PLOS ONE. 8 (4): e59570. Bibcode:2013PLoSO...859570Z. doi:10.1371/journal.pone.0059570. PMC 3617174. PMID 23593147.
Vaughn JD, Bailey LB, Shelnutt KP, Dunwoody KM, Maneval DR, Davis SR, Quinlivan EP, Gregory JF, Theriaque DW, Kauwell GP (November 2004). "Methionine synthase reductase 66A->G polymorphism is associated with increased plasma homocysteine concentration when combined with the homozygous methylenetetrahydrofolate reductase 677C->T variant". The Journal of Nutrition. 134 (11): 2985–90. doi:10.1093/jn/134.11.2985. PMID 15514263.
Wang SS, Qiao FY, Feng L, Lv JJ (February 2008). "Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China". Journal of Zhejiang University Science B. 9 (2): 93–9. doi:10.1631/jzus.B0710599. PMC 2225490. PMID 18257130.
Hobbs CA, Sherman SL, Yi P, Hopkins SE, Torfs CP, Hine RJ, Pogribna M, Rozen R, James SJ (September 2000). "Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome". American Journal of Human Genetics. 67 (3): 623–30. doi:10.1086/303055. PMC 1287522. PMID 10930360.
Wilson A, Platt R, Wu Q, Leclerc D, Christensen B, Yang H, Gravel RA, Rozen R (August 1999). "A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida". Molecular Genetics and Metabolism. 67 (4): 317–23. doi:10.1006/mgme.1999.2879. PMID 10444342.
Hassan FM, Khattab AA, Abo El Fotoh WM, Zidan RS (September 2017). "A66G and C524T polymorphisms of methionine synthase reductase gene are linked to the development of acyanotic congenital heart diseases in Egyptian children". Gene. 629: 59–63. doi:10.1016/j.gene.2017.07.081. PMID 28778621.
Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS (April 2010). "The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria". Human Mutation. 31 (4): 437–44. doi:10.1002/humu.21206. PMC 3429857. PMID 20120036.
Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V (2005). "cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression". Human Mutation. 25 (3): 239–47. doi:10.1002/humu.20131. PMID 15714522. S2CID 17183484.
Wang P, Li S, Wang M, He J, Xi S (2017). "Association of MTRR A66G polymorphism with cancer susceptibility: Evidence from 85 studies". Journal of Cancer. 8 (2): 266–277. doi:10.7150/jca.17379. PMC 5327376. PMID 28243331.
Shi Q, Zhang Z, Li G, Pillow PC, Hernandez LM, Spitz MR, Wei Q (August 2005). "Polymorphisms of methionine synthase and methionine synthase reductase and risk of lung cancer: a case-control analysis". Pharmacogenetics and Genomics. 15 (8): 547–55. doi:10.1097/01.fpc.0000170916.96650.70. PMID 16006998. S2CID 25879819.
Zhi X, Yang B, Fan S, Li Y, He M, Wang D, Wang Y, Wei J, Zheng Q, Sun G (December 2016). "Additive Interaction of MTHFR C677T and MTRR A66G Polymorphisms with Being Overweight/Obesity on the Risk of Type 2 Diabetes". International Journal of Environmental Research and Public Health. 13 (12): 1243. doi:10.3390/ijerph13121243. PMC 5201384. PMID 27983710.
Sharp L, Little J (March 2004). "Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review". American Journal of Epidemiology. 159 (5): 423–43. doi:10.1093/aje/kwh066. PMID 14977639.
Wettergren Y, Odin E, Carlsson G, Gustavsson B (2010). "MTHFR, MTR, and MTRR polymorphisms in relation to p16INK4A hypermethylation in mucosa of patients with colorectal cancer". Molecular Medicine. 16 (9–10): 425–32. doi:10.2119/molmed.2009.00156. PMC 2935958. PMID 20549016.
Le Marchand L, Donlon T, Hankin JH, Kolonel LN, Wilkens LR, Seifried A (2002). "B-vitamin intake, metabolic genes, and colorectal cancer risk (United States)". Cancer Causes & Control. 13 (3): 239–48. doi:10.1023/A:1015057614870. PMID 12020105. S2CID 6326507.
Gemmati D, Ongaro A, Scapoli GL, Della Porta M, Tognazzo S, Serino ML, Di Bona E, Rodeghiero F, Gilli G, Reverberi R, Caruso A, Pasello M, Pellati A, De Mattei M (May 2004). "Common gene polymorphisms in the metabolic folate and methylation pathway and the risk of acute lymphoblastic leukemia and non-Hodgkin's lymphoma in adults". Cancer Epidemiology, Biomarkers & Prevention. 13 (5): 787–94. doi:10.1158/1055-9965.787.13.5. PMID 15159311. S2CID 14936869.
Lin J, Spitz MR, Wang Y, Schabath MB, Gorlov IP, Hernandez LM, Pillow PC, Grossman HB, Wu X (September 2004). "Polymorphisms of folate metabolic genes and susceptibility to bladder cancer: a case-control study". Carcinogenesis. 25 (9): 1639–47. doi:10.1093/carcin/bgh175. PMID 15117811.
Skibola CF, Forrest MS, Coppedé F, Agana L, Hubbard A, Smith MT, Bracci PM, Holly EA (October 2004). "Polymorphisms and haplotypes in folate-metabolizing genes and risk of non-Hodgkin lymphoma". Blood. 104 (7): 2155–62. doi:10.1182/blood-2004-02-0557. PMID 15198953.
Watkins D, Rosenblatt DS (June 1988). "Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG". The Journal of Clinical Investigation. 81 (6): 1690–4. doi:10.1172/JCI113507. PMC 442612. PMID 3384945.
Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilová K, Kozich V, Zavad'áková P (October 2002). "CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families". Journal of Inherited Metabolic Disease. 25 (6): 461–76. doi:10.1023/A:1021299117308. PMID 12555939. S2CID 9114486.
Botto N, Andreassi MG, Manfredi S, Masetti S, Cocci F, Colombo MG, Storti S, Rizza A, Biagini A (September 2003). "Genetic polymorphisms in folate and homocysteine metabolism as risk factors for DNA damage". European Journal of Human Genetics. 11 (9): 671–8. doi:10.1038/sj.ejhg.5201024. PMID 12939653.
Brown CA, McKinney KQ, Kaufman JS, Gravel RA, Rozen R (June 2000). "A common polymorphism in methionine synthase reductase increases risk of premature coronary artery disease". Journal of Cardiovascular Risk. 7 (3): 197–200. doi:10.1177/204748730000700306. PMID 11006889. S2CID 32898984.
Shaw GM, Lu W, Zhu H, Yang W, Briggs FB, Carmichael SL, Barcellos LF, Lammer EJ, Finnell RH (June 2009). "118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects". BMC Medical Genetics. 10: 49. doi:10.1186/1471-2350-10-49. PMC 2700092. PMID 19493349.
Balduino Victorino D, de Godoy MF, Goloni-Bertollo EM, Pavarino ÉC (2014). "Genetic polymorphisms involved in folate metabolism and maternal risk for down syndrome: a meta-analysis". Disease Markers. 2014: 1–12. doi:10.1155/2014/517504. PMC 4269293. PMID 25544792.
Muthuswamy S, Agarwal S (2016). "Do the MTHFR gene polymorphism and Down syndrome pregnancy association stands true? A case–control study of Indian population and meta-analysis". Egyptian Journal of Medical Human Genetics. 17 (1): 87–97. doi:10.1016/j.ejmhg.2015.08.003. ISSN 1110-8630.
O'Leary VB, Parle-McDermott A, Molloy AM, Kirke PN, Johnson Z, Conley M, Scott JM, Mills JL (January 2002). "MTRR and MTHFR polymorphism: link to Down syndrome?". American Journal of Medical Genetics. 107 (2): 151–5. doi:10.1002/ajmg.10121. PMID 11807890.
Martínez-Frías ML, Pérez B, Desviat LR, Castro M, Leal F, Rodríguez L, Mansilla E, Martínez-Fernández ML, Bermejo E, Rodríguez-Pinilla E, Prieto D, Ugarte M (May 2006). "Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?". American Journal of Medical Genetics. Part A. 140 (9): 987–97. doi:10.1002/ajmg.a.31203. PMID 16575899. S2CID 44819166.
Bosco P, Guéant-Rodriguez RM, Anello G, Barone C, Namour F, Caraci F, Romano A, Romano C, Guéant JL (September 2003). "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". American Journal of Medical Genetics. Part A. 121A (3): 219–24. doi:10.1002/ajmg.a.20234. PMID 12923861. S2CID 38425348.
Al-Gazali LI, Padmanabhan R, Melnyk S, Yi P, Pogribny IP, Pogribna M, Bakir M, Hamid ZA, Abdulrazzaq Y, Dawodu A, James SJ (October 2001). "Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect". American Journal of Medical Genetics. 103 (2): 128–32. doi:10.1002/ajmg.1509. PMID 11568918.

ensembl.org

May2017.archive.ensembl.org

GRCh38: Ensembl release 89: ENSG00000124275 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000034617 – Ensembl, May 2017

harvard.edu

ui.adsabs.harvard.edu

Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA (March 1998). "Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria". Proceedings of the National Academy of Sciences of the United States of America. 95 (6): 3059–64. Bibcode:1998PNAS...95.3059L. doi:10.1073/pnas.95.6.3059. PMC 19694. PMID 9501215.
Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, Lu X, Liu L, Miao X, Xiong G (2013). "Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature". PLOS ONE. 8 (4): e59570. Bibcode:2013PLoSO...859570Z. doi:10.1371/journal.pone.0059570. PMC 3617174. PMID 23593147.

nih.gov

pubmed.ncbi.nlm.nih.gov

Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA (March 1998). "Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria". Proceedings of the National Academy of Sciences of the United States of America. 95 (6): 3059–64. Bibcode:1998PNAS...95.3059L. doi:10.1073/pnas.95.6.3059. PMC 19694. PMID 9501215.
van der Linden IJ, den Heijer M, Afman LA, Gellekink H, Vermeulen SH, Kluijtmans LA, Blom HJ (December 2006). "The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida". Journal of Molecular Medicine. 84 (12): 1047–54. doi:10.1007/s00109-006-0093-x. PMID 17024475. S2CID 24500664.
Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, Lu X, Liu L, Miao X, Xiong G (2013). "Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature". PLOS ONE. 8 (4): e59570. Bibcode:2013PLoSO...859570Z. doi:10.1371/journal.pone.0059570. PMC 3617174. PMID 23593147.
Vaughn JD, Bailey LB, Shelnutt KP, Dunwoody KM, Maneval DR, Davis SR, Quinlivan EP, Gregory JF, Theriaque DW, Kauwell GP (November 2004). "Methionine synthase reductase 66A->G polymorphism is associated with increased plasma homocysteine concentration when combined with the homozygous methylenetetrahydrofolate reductase 677C->T variant". The Journal of Nutrition. 134 (11): 2985–90. doi:10.1093/jn/134.11.2985. PMID 15514263.
Wang SS, Qiao FY, Feng L, Lv JJ (February 2008). "Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China". Journal of Zhejiang University Science B. 9 (2): 93–9. doi:10.1631/jzus.B0710599. PMC 2225490. PMID 18257130.
Hobbs CA, Sherman SL, Yi P, Hopkins SE, Torfs CP, Hine RJ, Pogribna M, Rozen R, James SJ (September 2000). "Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome". American Journal of Human Genetics. 67 (3): 623–30. doi:10.1086/303055. PMC 1287522. PMID 10930360.
Wilson A, Platt R, Wu Q, Leclerc D, Christensen B, Yang H, Gravel RA, Rozen R (August 1999). "A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida". Molecular Genetics and Metabolism. 67 (4): 317–23. doi:10.1006/mgme.1999.2879. PMID 10444342.
Hassan FM, Khattab AA, Abo El Fotoh WM, Zidan RS (September 2017). "A66G and C524T polymorphisms of methionine synthase reductase gene are linked to the development of acyanotic congenital heart diseases in Egyptian children". Gene. 629: 59–63. doi:10.1016/j.gene.2017.07.081. PMID 28778621.
Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS (April 2010). "The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria". Human Mutation. 31 (4): 437–44. doi:10.1002/humu.21206. PMC 3429857. PMID 20120036.
Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V (2005). "cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression". Human Mutation. 25 (3): 239–47. doi:10.1002/humu.20131. PMID 15714522. S2CID 17183484.
Wang P, Li S, Wang M, He J, Xi S (2017). "Association of MTRR A66G polymorphism with cancer susceptibility: Evidence from 85 studies". Journal of Cancer. 8 (2): 266–277. doi:10.7150/jca.17379. PMC 5327376. PMID 28243331.
Shi Q, Zhang Z, Li G, Pillow PC, Hernandez LM, Spitz MR, Wei Q (August 2005). "Polymorphisms of methionine synthase and methionine synthase reductase and risk of lung cancer: a case-control analysis". Pharmacogenetics and Genomics. 15 (8): 547–55. doi:10.1097/01.fpc.0000170916.96650.70. PMID 16006998. S2CID 25879819.
Zhi X, Yang B, Fan S, Li Y, He M, Wang D, Wang Y, Wei J, Zheng Q, Sun G (December 2016). "Additive Interaction of MTHFR C677T and MTRR A66G Polymorphisms with Being Overweight/Obesity on the Risk of Type 2 Diabetes". International Journal of Environmental Research and Public Health. 13 (12): 1243. doi:10.3390/ijerph13121243. PMC 5201384. PMID 27983710.
Matsuo K, Hamajima N, Hirai T, Kato T, Inoue M, Takezaki T, Tajima K (2002). "Methionine Synthase Reductase Gene A66G Polymorphism is Associated with Risk of Colorectal Cancer". Asian Pacific Journal of Cancer Prevention. 3 (4): 353–359. PMID 12716294.
Sharp L, Little J (March 2004). "Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review". American Journal of Epidemiology. 159 (5): 423–43. doi:10.1093/aje/kwh066. PMID 14977639.
Wettergren Y, Odin E, Carlsson G, Gustavsson B (2010). "MTHFR, MTR, and MTRR polymorphisms in relation to p16INK4A hypermethylation in mucosa of patients with colorectal cancer". Molecular Medicine. 16 (9–10): 425–32. doi:10.2119/molmed.2009.00156. PMC 2935958. PMID 20549016.
Le Marchand L, Donlon T, Hankin JH, Kolonel LN, Wilkens LR, Seifried A (2002). "B-vitamin intake, metabolic genes, and colorectal cancer risk (United States)". Cancer Causes & Control. 13 (3): 239–48. doi:10.1023/A:1015057614870. PMID 12020105. S2CID 6326507.
Gemmati D, Ongaro A, Scapoli GL, Della Porta M, Tognazzo S, Serino ML, Di Bona E, Rodeghiero F, Gilli G, Reverberi R, Caruso A, Pasello M, Pellati A, De Mattei M (May 2004). "Common gene polymorphisms in the metabolic folate and methylation pathway and the risk of acute lymphoblastic leukemia and non-Hodgkin's lymphoma in adults". Cancer Epidemiology, Biomarkers & Prevention. 13 (5): 787–94. doi:10.1158/1055-9965.787.13.5. PMID 15159311. S2CID 14936869.
Lin J, Spitz MR, Wang Y, Schabath MB, Gorlov IP, Hernandez LM, Pillow PC, Grossman HB, Wu X (September 2004). "Polymorphisms of folate metabolic genes and susceptibility to bladder cancer: a case-control study". Carcinogenesis. 25 (9): 1639–47. doi:10.1093/carcin/bgh175. PMID 15117811.
Skibola CF, Forrest MS, Coppedé F, Agana L, Hubbard A, Smith MT, Bracci PM, Holly EA (October 2004). "Polymorphisms and haplotypes in folate-metabolizing genes and risk of non-Hodgkin lymphoma". Blood. 104 (7): 2155–62. doi:10.1182/blood-2004-02-0557. PMID 15198953.
Stolzenberg-Solomon RZ, Qiao YL, Abnet CC, Ratnasinghe DL, Dawsey SM, Dong ZW, Taylor PR, Mark SD (November 2003). "Esophageal and gastric cardia cancer risk and folate- and vitamin B(12)-related polymorphisms in Linxian, China". Cancer Epidemiology, Biomarkers & Prevention. 12 (11 Pt 1): 1222–6. PMID 14652285.
Watkins D, Rosenblatt DS (June 1988). "Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG". The Journal of Clinical Investigation. 81 (6): 1690–4. doi:10.1172/JCI113507. PMC 442612. PMID 3384945.
Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilová K, Kozich V, Zavad'áková P (October 2002). "CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families". Journal of Inherited Metabolic Disease. 25 (6): 461–76. doi:10.1023/A:1021299117308. PMID 12555939. S2CID 9114486.
Botto N, Andreassi MG, Manfredi S, Masetti S, Cocci F, Colombo MG, Storti S, Rizza A, Biagini A (September 2003). "Genetic polymorphisms in folate and homocysteine metabolism as risk factors for DNA damage". European Journal of Human Genetics. 11 (9): 671–8. doi:10.1038/sj.ejhg.5201024. PMID 12939653.
Brown CA, McKinney KQ, Kaufman JS, Gravel RA, Rozen R (June 2000). "A common polymorphism in methionine synthase reductase increases risk of premature coronary artery disease". Journal of Cardiovascular Risk. 7 (3): 197–200. doi:10.1177/204748730000700306. PMID 11006889. S2CID 32898984.
Shaw GM, Lu W, Zhu H, Yang W, Briggs FB, Carmichael SL, Barcellos LF, Lammer EJ, Finnell RH (June 2009). "118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects". BMC Medical Genetics. 10: 49. doi:10.1186/1471-2350-10-49. PMC 2700092. PMID 19493349.
Balduino Victorino D, de Godoy MF, Goloni-Bertollo EM, Pavarino ÉC (2014). "Genetic polymorphisms involved in folate metabolism and maternal risk for down syndrome: a meta-analysis". Disease Markers. 2014: 1–12. doi:10.1155/2014/517504. PMC 4269293. PMID 25544792.
O'Leary VB, Parle-McDermott A, Molloy AM, Kirke PN, Johnson Z, Conley M, Scott JM, Mills JL (January 2002). "MTRR and MTHFR polymorphism: link to Down syndrome?". American Journal of Medical Genetics. 107 (2): 151–5. doi:10.1002/ajmg.10121. PMID 11807890.
Martínez-Frías ML, Pérez B, Desviat LR, Castro M, Leal F, Rodríguez L, Mansilla E, Martínez-Fernández ML, Bermejo E, Rodríguez-Pinilla E, Prieto D, Ugarte M (May 2006). "Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?". American Journal of Medical Genetics. Part A. 140 (9): 987–97. doi:10.1002/ajmg.a.31203. PMID 16575899. S2CID 44819166.
Bosco P, Guéant-Rodriguez RM, Anello G, Barone C, Namour F, Caraci F, Romano A, Romano C, Guéant JL (September 2003). "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". American Journal of Medical Genetics. Part A. 121A (3): 219–24. doi:10.1002/ajmg.a.20234. PMID 12923861. S2CID 38425348.
Al-Gazali LI, Padmanabhan R, Melnyk S, Yi P, Pogribny IP, Pogribna M, Bakir M, Hamid ZA, Abdulrazzaq Y, Dawodu A, James SJ (October 2001). "Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect". American Journal of Medical Genetics. 103 (2): 128–32. doi:10.1002/ajmg.1509. PMID 11568918.

ncbi.nlm.nih.gov

"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA (March 1998). "Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria". Proceedings of the National Academy of Sciences of the United States of America. 95 (6): 3059–64. Bibcode:1998PNAS...95.3059L. doi:10.1073/pnas.95.6.3059. PMC 19694. PMID 9501215.
"Entrez Gene: MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase".
Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, Lu X, Liu L, Miao X, Xiong G (2013). "Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature". PLOS ONE. 8 (4): e59570. Bibcode:2013PLoSO...859570Z. doi:10.1371/journal.pone.0059570. PMC 3617174. PMID 23593147.
Wang SS, Qiao FY, Feng L, Lv JJ (February 2008). "Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China". Journal of Zhejiang University Science B. 9 (2): 93–9. doi:10.1631/jzus.B0710599. PMC 2225490. PMID 18257130.
Hobbs CA, Sherman SL, Yi P, Hopkins SE, Torfs CP, Hine RJ, Pogribna M, Rozen R, James SJ (September 2000). "Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome". American Journal of Human Genetics. 67 (3): 623–30. doi:10.1086/303055. PMC 1287522. PMID 10930360.
G">"NM_002454.2(MTRR):c.1049A>G (p.Lys350Arg) AND not specified - ClinVar - NCBI". Retrieved 2017-09-16.
G">"NM_002454.2(MTRR):c.1349C>G (p.Pro450Arg) AND Disorders of Intracellular Cobalamin Metabolism - ClinVar - NCBI". Retrieved 2017-09-16.
Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS (April 2010). "The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria". Human Mutation. 31 (4): 437–44. doi:10.1002/humu.21206. PMC 3429857. PMID 20120036.
T">"NM_002454.2(MTRR):c.1361C>T (p.Ser454Leu) Simple - Variation Report - ClinVar - NCBI". Retrieved 2017-09-16.
A">"NM_002454.2(MTRR):c.1459G>A (p.Gly487Arg) AND Inborn genetic diseases - ClinVar - NCBI". Retrieved 2017-09-16.
T">"NM_002454.2(MTRR):c.1573C>T (p.Arg525Ter) AND not provided - ClinVar - NCBI". Retrieved 2017-09-16.
A">"NM_002454.2(MTRR):c.1911G>A (p.Ala637=) Simple - Variation Report - ClinVar - NCBI". Retrieved 2017-09-16.
Wang P, Li S, Wang M, He J, Xi S (2017). "Association of MTRR A66G polymorphism with cancer susceptibility: Evidence from 85 studies". Journal of Cancer. 8 (2): 266–277. doi:10.7150/jca.17379. PMC 5327376. PMID 28243331.
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