Paper Highlights

Research Article   December 1, 2017
Genet. Mol. Res.: 16(4): 1-8. DOI: 10.4238/gmr16039843

Single Nucleotide Polymorphisms associated with growth and carcass traits located on QTL Regions previously associated with Bovine Respiratory Disease

The objective of the current study was to evaluate single nucleotide polymorphisms (SNP) for potential growth and carcass trait associations located in two previously described quantitative trait loci (QTL) regions associated with bovine respiratory disease. A population of 323 crossbred steers sired by five purebred sire breeds between 2010-2013 (Angus, Braford, Br.. Read More»

Research Article   November 29, 2017
Genet. Mol. Res.: 16(4): 1-13. DOI: 10.4238/gmr16039829

Alcohol metabolizing gene polymorphisms and their relationship with oral cancer risk and clinicopathological features

Oral cancer incidence is higher in individuals between the fifth and seventh decades of life, but some studies indicate a decreasing age trend. From the epidemiological point of view, alcohol consumption is associated with the emergence of oral cancer by interfering with mechanisms of DNA synthesis and repair. From a genetic standpoint, variant alleles in genes enco.. Read More»

Research Article   November 29, 2017
Genet. Mol. Res.: 16(4): 1-6. DOI: 10.4238/gmr16039828

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»

Research Article   October 21, 2017
Genet. Mol. Res.: 16(4): 1-10. DOI: 10.4238/gmr16039810

Factor V Leiden G1691A and Prothrombin G20210A mutations are associated with repeated spontaneous miscarriage in Northern area of Saudi Arabia

Maternally inherited thrombophilia could be one of the causes of recurrent spontaneous miscarriage (RSM). We aimed to investigate the frequency of three thrombotic gene variants; factor V Leiden (FVL; G1691A), prothrombin (PTH; G20210A), and methylenetetrahydrofolate reductase (MTHFR; C677T) in Saudi patients diagnosed with RSM. A case control study was conducted on.. Read More»

Stay in touch

Stay informed on our latest news!