Publications by authors named "S E Taymans"

Importance: Investing in the next generation of researchers is essential, as recently highlighted in the 21st Century Cures Act. From its inception, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) has supported training and career development to ensure a robust pipeline of investigators who are prepared to lead their respective fields of inquiry. In recent years, the NICHD has emphasized institutional over individual training awards to a greater degree than many other National Institutes of Health institutes of similar size.

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Study Question: Does the fertility status of an individual act as a biomarker for their future health?

Summary Answer: Data support an association between reproductive health and overall health for men and women.

What Is Already Known: Various chronic conditions, such as diabetes, obesity and cancer, can compromise fertility, but there are limited data for the converse situation, in which fertility status can influence or act as a marker for future health. Data reveal an association between infertility and incident cardiovascular disease and cancer in both men and women.

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The R337H TP53 mutation is a low-penetrance molecular defect that predisposes to adrenocortical tumour (ACT) formation in Brazilian and possibly other populations. Additional genetic defects may be responsible for the variable expression of ACTs in these cases. The inhibin alpha-subunit gene (INHA) on 2q33-qter has been implicated in mouse adrenocortical tumourigenesis.

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Carney complex (CNC) is an autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome characterised by spotty skin pigmentation, cardiac, skin, and breast myxomas, and a variety of endocrine and other tumours. The disease is genetically heterogeneous; two loci have been mapped to chromosomes 17q22-24 (the CNC1 locus) and 2p16 (CNC2). Mutations in the PRKAR1A tumour suppressor gene were recently found in CNC1 mapping kindreds, while the CNC2 and perhaps other genes remain unidentified.

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