Browsing by Author "Bonab, Maziar Ashrafian"
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Item Open Access The application of gene expression profiling in predictions of occult lymph node metastasis in colorectal cancer patients(MDPI, 2018-02-13) Asadzadeh-Aghdaei, H.; Zali, M. R.; Bonab, Maziar Ashrafian; McClellan, J.; Young, Christopher N. J.; Anaraki, F.; Nazemalhosseini-Mojarad, E; Larki, P.; Gharib, E.; Peyravian, N.A key factor in determining the likely outcome for a patient with colorectal cancer is whether or not the tumour has metastasised to the lymph nodes, information which is also important in assessing any possibilities of lymph node resection so as to improve survival. In this review we perform a wide range assessment of literature relating to recent developments in gene expression profiling (GEP) of the primary tumour, to determine their utility in assessing node status. A set of characteristic genes seems to be involved in the prediction of lymph node metastasis (LNM) in colorectal patients. Hence, GEP is applicable in personalised/individualised/tailored therapies and provides insights into developing novel therapeutic targets. Not only is GEP useful in prediction of LNM, but also allows classification based on differences such as sample size, target gene expression and examination method.Item Open Access GJA4/connexin 37 mutations correlate with secondary lymphedema following surgery in breast cancer patients(2018-02-22) Hadizadeh, M.; Ardebili, S.M.M.; Salehi, M.; Young, Christopher N. J.; Mokarian, F.; McClellan, J.; Xu, Q.; Kazemi, M.; Moazam, E.; Mahaki, B.; Bonab, Maziar AshrafianLymphedema is a condition resulting from mutations in various genes essential for lymphatic development and function which leads to obstruction of the lymphatic system. Secondary Lymphedema is a progressive and incurable condition, most often manifesting after surgery for breast cancer. Although its causation appears complex, various lines of evidence indicate genetic predisposition may play a role. Previous studies show that mutations in Connexin 47 are associated with secondary lymphedema. We have tested the hypothesis that connexin 37 gene mutations in humans are associated with secondary lymphedema following breast cancer surgery. 2211 breast cancer patients were screened and tested for reference single nucleotide polymorphisms of the GJA4 gene. The results presented in this paper indicate that two SNPs in the 3’ UTR of the GJA4 gene are associated with increased risk of secondary lymphedema in patients undergoing breast cancer treatment. Our results provide evidence of a novel genetic biomarker for assessing predisposition to secondary lymphedema in human breast cancer patients. Testing for the condition-associated alleles described here could assist and inform treatment and post-operative care plans of breast cancer patients, with potentially positive outcomes for the management of disease progression.Item Open Access Mapping Post-Glacial expansions: The Peopling of Southwest Asia(Springer, 2017-01-06) Platt, Daniel E.; Haber, Marc; Dagher-Kharrat, Magda Bou; Douaihy, Bouchra; Khazen, Georges; Bonab, Maziar Ashrafian; Salloum, Angélique; Mouzaya, Francis; Luiselli, Donata; Tyler-Smith, Chris; Renfrew, Colin; Matisoo-Smith, Elizabeth; Zalloua, Pierre A.Archaeological, palaeontological and geological evidence shows that post-glacial warming released human populations from their various climate-bound refugia. Yet specific connections between these refugia and the timing and routes of post-glacial migrations that ultimately established modern patterns of genetic variation remain elusive. Here, we use Y-chromosome markers combined with autosomal data to reconstruct population expansions from regional refugia in Southwest Asia. Populations from three regions in particular possess distinctive autosomal genetic signatures indicative of likely refugia: one, in the north, centered around the eastern coast of the Black Sea, the second, with a more Levantine focus, and the third in the southern Arabian Peninsula. Modern populations from these three regions carry the widest diversity and may indeed represent the most likely descendants of the populations responsible for the Neolithic cultures of Southwest Asia. We reveal the distinct and datable expansion routes of populations from these three refugia throughout Southwest Asia and into Europe and North Africa and discuss the possible correlations of these migrations to various cultural and climatic events evident in the archaeological record of the past 15,000 years.Item Embargo An old dog and new tricks: Genetic analysis of a Tudor dog recovered from the Mary Rose wreck(Forensic Science International, 2014-10-14) Zouganelis, G. D.; Ogden, R.; Nahar, N.; Runfola, V.; Bonab, Maziar Ashrafian; Ardalan, A.; Radford, Dennis; Barnett, R.; Larson, G.; Hildred, A.; Jones, M.; Scarlett, G.The Tudor warship the Mary Rose sank in the Solent waters between Portsmouth and the Isle of Wight on the 19th of July 1545, whilst engaging a French invasion fleet. The ship was rediscovered in 1971 and between 1979 and 1982 the entire contents of the ship were excavated resulting in the recovery of over 25,000 objects, including the skeleton of a small to medium sized dog referred to as the Mary Rose Dog (MRD). Here we report the extraction and analysis of both mitochondrial and genomic DNA from a tooth of this animal. Our results show that the MRD was a young male of a terrier type most closely related to modern Jack Russell Terriers with a light to dark brown coat colour. Interestingly, given the antiquity of the sample, the dog was heterozygotic for the SLC2A9 gene variant that leads to hyperuricosuria when found in modern homozygotic animals. These findings help shed light on a notable historical artefact from an important period in the development of modern dog breeds.