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Full-Text Articles in Medicine and Health Sciences
Association Of Genetic Variances In Adrb1 And Ppargc1a With Two-Kilometre Running Time-Trial Performance In Australian Football League Players: A Preliminary Study, Ysabel Jacob, Ryan S. Anderton, Jodie L. Cochrane Wilkie, Brent Rogalski, Simon M. Laws, Anthony Jones, Tania Spiteri, Nicolas H. Hart
Association Of Genetic Variances In Adrb1 And Ppargc1a With Two-Kilometre Running Time-Trial Performance In Australian Football League Players: A Preliminary Study, Ysabel Jacob, Ryan S. Anderton, Jodie L. Cochrane Wilkie, Brent Rogalski, Simon M. Laws, Anthony Jones, Tania Spiteri, Nicolas H. Hart
Research outputs 2014 to 2021
Abstract: Genetic variants in the angiotensin-converting enzyme (ACE) (rs4343), alpha-actinin-3 (ACTN3) (rs1815739), adrenoceptor-beta-1 (ADRB1) (rs1801253), and peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PPARGC1A) (rs8192678) genes have previously been associated with elite athletic performance. This study assessed the influence of polymorphisms in these candidate genes towards endurance test performance in 46 players from a single Australian Football League (AFL) team. Each player provided saliva buccal swab samples for DNA analysis and genotyping and were required to perform two independent two-kilometre running time-trials, six weeks apart. Linear mixed models were created to account for repeated measures over time and to determine whether …
Different Genetic Mechanisms Mediate Spontaneous Versus Uvr-Induced Malignant Melanoma, Blake Ferguson, Herlina Y. Handoko, Pamela Mukhopadhyay, Arash Chitsazan, Lois Balmer, Grant Morahan, Graeme J. Walker
Different Genetic Mechanisms Mediate Spontaneous Versus Uvr-Induced Malignant Melanoma, Blake Ferguson, Herlina Y. Handoko, Pamela Mukhopadhyay, Arash Chitsazan, Lois Balmer, Grant Morahan, Graeme J. Walker
Research outputs 2014 to 2021
Genetic variation conferring resistance and susceptibility to carcinogen-induced tumorigenesis is frequently studied in mice. We have now turned this idea to melanoma using the collaborative cross (CC), a resource of mouse strains designed to discover genes for complex diseases. We studied melanoma-prone transgenic progeny across seventy CC genetic backgrounds. We mapped a strong quantitative trait locus for rapid onset spontaneous melanoma onset to Prkdc, a gene involved in detection and repair of DNA damage. In contrast, rapid onset UVR-induced melanoma was linked to the ribosomal subunit gene Rrp15. Ribosome biogenesis was upregulated in skin shortly after UVR exposure. …
Introducing The First Whole Genomes Of Nationals From The United Arab Emirates, Habiba S. Alsafar, Mariam Al-Ali, Gihan Daw Elbait, Mustafa H. Al-Maini, Dymitr Ruta, Braulio Peramo, Andreas Henschel, Guan K. Tay
Introducing The First Whole Genomes Of Nationals From The United Arab Emirates, Habiba S. Alsafar, Mariam Al-Ali, Gihan Daw Elbait, Mustafa H. Al-Maini, Dymitr Ruta, Braulio Peramo, Andreas Henschel, Guan K. Tay
Research outputs 2014 to 2021
Whole Genome Sequencing (WGS) provides an in depth description of genome variation. In the era of large-scale population genome projects, the assembly of ethnic-specific genomes combined with mapping human reference genomes of underrepresented populations has improved the understanding of human diversity and disease associations. In this study, for the first time, whole genome sequences of two nationals of the United Arab Emirates (UAE) at >27X coverage are reported. The two Emirati individuals were predominantly of Central/South Asian ancestry. An in-house customized pipeline using BWA, Picard followed by the GATK tools to map the raw data from whole genome sequences of …