New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate

European Journal of Oral Sciences - Tập 119 Số 3 - Trang 193-197 - 2011
Marcella Martinelli1, Elena Masiero1, Francesco Carinci2, Paolo Giovanni Morselli3, Furio Pezzetti1, Luca Scapoli1
1Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, CARISBO Foundation, University of Bologna, Bologna
2Department of D.M.C.C.C., Section of Maxillo‐Facial and Plastic Surgery, University of Ferrara, Ferrara
3University of Bologna, School of Plastic Surgery – Plastic Surgery Unit S. Orsola Hospital, Bologna, Italy

Tóm tắt

Từ khóa


Tài liệu tham khảo

Taparia, 2007, Importance of folate-homocysteine homeostasis during early embryonic development, Clin Chem Lab Med, 45, 1717, 10.1515/CCLM.2007.345

Morrison, 1998, Relationship of dietary folate and vitamin B6 with coronary heart disease in women, JAMA, 280, 417, 10.1001/jama.280.5.417

Razin, 2005, DNA methylation in epigenetic control of gene expression, Prog Mol Subcell Biol, 38, 151, 10.1007/3-540-27310-7_6

Martinelli, 2001, C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers?, Am J Med Genet, 98, 357, 10.1002/1096-8628(20010201)98:4<357::AID-AJMG1108>3.0.CO;2-F

Pezzetti, 2004, Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate, Hum Mutat, 24, 104, 10.1002/humu.9257

Scapoli, 2005, Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases, Am J Med Genet A, 132, 302, 10.1002/ajmg.a.30469

Martinelli, 2006, Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate, Hum Mutat, 27, 294, 10.1002/humu.9411

Heil, 2000, Betaine-homocysteine methyltransferase (BHMT): genomic sequencing and relevance to hyperhomocysteinemia and vascular disease in humans, Mol Genet Metab, 71, 511, 10.1006/mgme.2000.3078

Carinci, 1995, Nonsyndromic cleft lip and palate: evidence of linkage to a microsatellite marker on 6p23, Am J Hum Genet, 56, 337

Zhu, 2005, Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?, Am J Med Genet A, 135, 274, 10.1002/ajmg.a.30739

Rubini, 2005, Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate, Am J Med Genet A, 136A, 368, 10.1002/ajmg.a.30812

Sebastio, 1995, The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations, Am J Hum Genet, 56, 1324

Wittke-Thompson, 2005, Rational inferences about departures from Hardy-Weinberg equilibrium, Am J Hum Genet, 76, 967, 10.1086/430507

Dudbridge, 2003, Pedigree disequilibrium tests for multilocus haplotypes, Genet Epidemiol, 25, 115, 10.1002/gepi.10252

Sham, 1995, An extended transmission/disequilibrium test (TDT) for multi-allele marker loci, Ann Hum Genet, 59, 323, 10.1111/j.1469-1809.1995.tb00751.x

Weinberg, 1998, A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting, Am J Hum Genet, 62, 969, 10.1086/301802

Vermunt, 1997, LEM: a general program for the analysis of categorical data

Morin, 2003, Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida, Am J Med Genet A, 119A, 172, 10.1002/ajmg.a.20115

Weisberg, 2003, Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease, Atherosclerosis, 167, 205, 10.1016/S0021-9150(03)00010-8

Mostowska, 2010, Associations of folate and choline metabolism gene polymorphisms with orofacial clefts, J Med Genet, 47, 809, 10.1136/jmg.2009.070029

Mostowska, 2010, Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts, Eur J Oral Sci, 118, 325, 10.1111/j.1600-0722.2010.00757.x

Vyletal, 2007, Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion, Hum Mutat, 28, 255, 10.1002/humu.20430

Giusti, 1997, Different distribution of the double mutant “T833C/68 bp insertion” in cystathionine beta-synthase gene in Northern and Southern Italian populations, Thromb Haemost, 78, 1293, 10.1055/s-0038-1657730

Guzman, 2006, Cystathionine beta-synthase is essential for female reproductive function, Hum Mol Genet, 15, 3168, 10.1093/hmg/ddl393

Blanton, 2011, Folate pathway and nonsyndromic cleft lip and palate, Birth Defects Res A Clin Mol Teratol, 91, 50, 10.1002/bdra.20740