Matteo Bertelli
A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome
A targeted next generation sequencing (NGS) approach analysing contemporaneously 20 different genes mainly involved in craniosynostosis was adopted to molecularly diagnose the family of a 2-years old girl affected by Saethre–Chotzen syndrome, a syndromic form of craniosynostosis. The identified pathogenic variant in the TWIST1 gene lies in a conserved residue .. Read More»
Genet. Mol. Res. 16(4): gmr16039828
DOI: 10.4238/gmr16039828
AluYb8 insertion in the WNK1 gene is not associated with hypertension in a Russian Caucasian population
WNK1 (With No-lysine Kinase 1), a serine-threonine kinase, regulates blood pressure by acting on various sodium transport-related ion channels. Several studies report a link between common variants of the WNK1 gene and hypertension. No data exists on Russian populations. Our aim was to evaluate the association between the WNK1 AluYb8 polymorphism and hypertension su.. Read More»
Genet. Mol. Res. 16(4): gmr16039809
DOI: 10.4238/gmr16039809
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