Erik M. B. Stevens

TL;DR: The data suggest that the combined heterozygosity for the two MTHFR common mutations accounts for a proportion of folate-related NTDs, which is not explained by homozygosity by the 677(C-->T) mutation, and can be an additional genetic risk factor for N TDs.

TL;DR: It is concluded that heterozygosity for CBS deficiency does not appear to be involved in premature cardiovascular disease, however, a frequent homozygous mutation in the MTHFR gene is associated with a threefold increase in risk for prematurely cardiovascular disease.

TL;DR: In 28% of the hyperhomocysteinemic patients with premature vascular disease, abnormal homocysteine metabolism could be attributed to thermolabile MTHFR.

TL;DR: The presence of a homozygous G1330A mutation in the CBS cDNA indicates the importance of S-adenosylmethionine regulation of the transsulfuration pathway in homocysteine homeostasis in humans and suggests that this D444N mutation interferes in S- adenosyl methionines regulation of CBS.

TL;DR: The molecular basis of severe MTHFR deficiency in four unrelated families from Turkish/Greek ancestry is reported, and four novel mutations in the MTH FR gene are identified: two missense (983A→G; 1027T→G) and two nonsense (1084C→T; 1711C→ T) mutations.