J L Mills
Affiliation: National Institutes of Health
Mills J, Druschel C, Pangilinan F, Pass K, Cox C, Seltzer R, et al
. Folate-related genes and omphalocele. Am J Med Genet A. 2005;136:8-11 pubmed
..This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required. ..
Mills J, Troendle J, Conley M, Carter T, Druschel C. Maternal obesity and congenital heart defects: a population-based study. Am J Clin Nutr. 2010;91:1543-9 pubmed publisher
..Weight reduction as a way to reduce risk should be investigated. ..
Carter T, Pangilinan F, Molloy A, Fan R, Wang Y, Shane B, et al
. Common Variants at Putative Regulatory Sites of the Tissue Nonspecific Alkaline Phosphatase Gene Influence Circulating Pyridoxal 5'-Phosphate Concentration in Healthy Adults. J Nutr. 2015;145:1386-93 pubmed publisher
..Whether these associations are indicative of functional changes in vitamin B-6 status requires more investigation. ..
Mills J, Molloy A, Parle McDermott A, Troendle J, Brody L, Conley M, et al
. Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate. Birth Defects Res A Clin Mol Teratol. 2008;82:636-43 pubmed publisher
..Because multiple comparisons were made, these findings require additional investigation. Given the known association between MTHFD1 1958 G-->A and NTDs, these findings should be explored in more detail. ..
Mills J, Carter T, Kay D, Browne M, Brody L, Liu A, et al
. Folate and vitamin B12-related genes and risk for omphalocele. Hum Genet. 2012;131:739-46 pubmed publisher
..Our data, if confirmed, suggest that supplements containing both folic acid and vitamin B12 may be beneficial in preventing omphaloceles. ..
Hagen E, Sicko R, Kay D, Rigler S, Dimopoulos A, Ahmad S, et al
. Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways. Hum Genet. 2016;135:1355-1364 pubmed
..Further investigation into genes involved in the NODAL, BMP, and WNT body patterning pathways and into the dosage effects of FGF12, RBFOX1, and MIR302F is warranted. ..