Variant

A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome

E. Manara, Guraj, D., Fanelli, F., Maltese, P. E., Babameto-Laku, A., Capodicasa, N., Michelini, S., Amato, B., and Bertelli, M., “A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome”, Genetics and molecular Research, vol. 16, no. 4, 2017.

Mitochondrial tRNALeu(CUN) A12307G variant may not be associated pancreatic cancer

Y. Li, Huang, A. W., Chen, Y. Z., Yang, W. J., Zhou, M. T., Sun, H. W., Li, Y., Huang, A. W., Chen, Y. Z., Yang, W. J., Zhou, M. T., and Sun, H. W., “Mitochondrial tRNALeu(CUN) A12307G variant may not be associated pancreatic cancer”, vol. 15, p. -, 2016.

Mitochondrial DNA mutations that lead to mitochondrial dysfunction have long been proposed to play important roles in the development of pancreatic cancer. Of these, alterations to mitochondrial tRNA genes constitute the largest group. Most recently, a variation at position 12307 in the gene encoding tRNALeu(CUN) has been reported to be associated with this disease. However, the molecular mechanism underlying this relationship remains poorly understood.

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