?url_ver=Z39.88-2004&rft_id=10.5204%2Fthesis.eprints.180906&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Adc&rft.title=Investigation+of+genetic+variants+in+human+immunodeficiency+and+an+Australian+non-Hodgkin+lymphoma+population&rft.creator=Bradshaw%2C+Gabrielle&rft.subject=Non-Hodgkin+Lymphoma&rft.subject=Primary+Immunodeficiency&rft.subject=Micro-RNA&rft.subject=Whole+Exome+Sequencing&rft.subject=CRISPR%2FCas9&rft.subject=MSN&rft.subject=MIR143&rft.description=This+investigative+study+identified+a+missense+moesin+protein+variant+R171WMSN+as+the+disease-causing+mutation+in+an+unknown+primary+immunodeficiency+disorder+(PID)+through+an+exome+sequencing+(WES)+approach.+As+PIDs+can+confer+incidence+of+lymphoproliferative+disorders%2C+candidate+genes+and+variants+identified+by+WES+were+also+investigated+in+another+lymphoid+abnormality%2C+i.e.+non-Hodgkin+lymphoma+(NHL)%2C+to+determine+association+with+NHL+subtypes.+In+addition%2C+variants+located+within+microRNAs+and+their+targets+were+investigated+in+association+with+NHL+susceptibility+in+an+Australian+cohort+of+matched+NHL+cases+and+healthy+controls+where+SNPs+in+MIR143+were+shown+to+be+significantly+associated+with+NHL+risk.&rft.publisher=Queensland+University+of+Technology&rft.date=2020&rft.type=Thesis&rft.format=application%2Fpdf&rft.relation=https%3A%2F%2Feprints.qut.edu.au%2F180906%2F2%2FGabrielle_Bradshaw_Thesis.pdf&rft.rights=free_to_read&rft.rights=http%3A%2F%2Fcreativecommons.org%2Flicenses%2Fby-nc-nd%2F4.0%2F&rft.relation=doi%3A10.5204%2Fthesis.eprints.180906&rft.relation=Bradshaw%2C+Gabrielle+(2020)+Investigation+of+genetic+variants+in+human+immunodeficiency+and+an+Australian+non-Hodgkin+lymphoma+population.+PhD+thesis%2C+Queensland+University+of+Technology.&rft.id_number=https%3A%2F%2Feprints.qut.edu.au%2F180906%2F&rft.identifier=Faculty+of+Health%3B+School+of+Biomedical+Sciences