Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
نویسندگان
چکیده
منابع مشابه
Inositol and folate resistant neural tube defects.
Folic acid supplementation is widely used to prevent neural tube defects (NTDs). 2 Yet not all cases of NTD appear to respond to folic acid. For instance, in the randomised controlled trial sponsored by the Medical Research Council, six NTD recurrences were noted among 593 women (1%) who received full folic acid supplementation, compared with 21 recurrences among 602 unsupplemented pregnancies ...
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A protective effect of folate against the development of neural tube defects (NTDs), specifically, anencephaly and spina bifida, is now well recognized, having been established by a chain of clinical research studies over the past half century. This article summarizes the more important of these studies, which have led to the current situation in which all women capable of becoming pregnant are...
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Using data from a recent case-control study, a woman's risk of having a child with a neural tube defect (NTD) was found to be associated with early pregnancy red cell folate levels in a continuous dose-response relationship. These findings were used to calculate the reduction in NTD cases that would be expected under two different strategies to raise folate levels. Targeting high-risk individua...
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Neural tube defects (NTDs) are a common cause of disability or death of new-borns, but the aetiology and genetic background of this disease are still poorly understood. Therefore, it was decided to determine the conditions for the identification of several polymorphisms and to perform a preliminary study on Polish NTD patients and their parents. According to the results of this study, the genet...
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Nutritional deficiencies are preventable etiological and epigenetic factors causing congenital abnormalities, first cause of infant mortality. Folate deficiency has a well-established teratogenic effect, leading to an increasing risk of neural tube defects. This paper highlights the most recent medical literature about folate deficiency, be it maternal or paternal. It then focuses on associated...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2018
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-017-0025-y