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Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.
Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Doré C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS. Watkins D, et al. Among authors: shane b. Am J Hum Genet. 2002 Jul;71(1):143-53. doi: 10.1086/341354. Epub 2002 May 30. Am J Hum Genet. 2002. PMID: 12068375 Free PMC article.
Targeted disruption of the methionine synthase gene in mice.
Swanson DA, Liu ML, Baker PJ, Garrett L, Stitzel M, Wu J, Harris M, Banerjee R, Shane B, Brody LC. Swanson DA, et al. Among authors: shane b. Mol Cell Biol. 2001 Feb;21(4):1058-65. doi: 10.1128/MCB.21.4.1058-1065.2001. Mol Cell Biol. 2001. PMID: 11158293 Free PMC article.
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.
Molloy AM, Pangilinan F, Mills JL, Shane B, O'Neill MB, McGaughey DM, Velkova A, Abaan HO, Ueland PM, McNulty H, Ward M, Strain JJ, Cunningham C, Casey M, Cropp CD, Kim Y, Bailey-Wilson JE, Wilson AF, Brody LC. Molloy AM, et al. Among authors: shane b. Am J Hum Genet. 2016 May 5;98(5):869-882. doi: 10.1016/j.ajhg.2016.03.005. Epub 2016 Apr 28. Am J Hum Genet. 2016. PMID: 27132595 Free PMC article.
The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.
Velkova A, Diaz JEL, Pangilinan F, Molloy AM, Mills JL, Shane B, Sanchez E, Cunningham C, McNulty H, Cropp CD, Bailey-Wilson JE, Wilson AF, Brody LC. Velkova A, et al. Among authors: shane b. Hum Mol Genet. 2017 Dec 15;26(24):4975-4988. doi: 10.1093/hmg/ddx369. Hum Mol Genet. 2017. PMID: 29040465 Free PMC article.
Cerebral vascular dysfunction in methionine synthase-deficient mice.
Dayal S, Devlin AM, McCaw RB, Liu ML, Arning E, Bottiglieri T, Shane B, Faraci FM, Lentz SR. Dayal S, et al. Among authors: shane b. Circulation. 2005 Aug 2;112(5):737-44. doi: 10.1161/CIRCULATIONAHA.104.529248. Epub 2005 Jul 25. Circulation. 2005. PMID: 16043641
197 results