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	Provedor de dados BJID (1) Genet. Mol. Biol. (1) Autor Ahmed,Rashida (1) Arshad,Muhammad (1) Azim,M. Kamran (1) Bashir,Razia (1) Ghias,Kulsoom (1) Irfan,Shazia (1) Khan,Mumtaz J (1) Madhani,Sarosh (1) Nawaz,Syed Kashif (1) Rani,Asima (1) Razzak,Safina A (1) Rehmani,Sadiq S (1) Shaheen,Najma (1) Mais... Palavra-chave Pakistani population (2) Driver mutation (1) Head and neck squamous cell carcinoma (HNSCC) (1) MAL (1) Malaria (1) Novel mutation (1) Plasmodium (1) Rs8177374 (1) Whole exome sequencing (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2019 (1) 2017 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Mutational landscape of head and neck squamous cell carcinomas in a South Asian population Genet. Mol. Biol. Ghias,Kulsoom; Rehmani,Sadiq S; Razzak,Safina A; Madhani,Sarosh; Azim,M. Kamran; Ahmed,Rashida; Khan,Mumtaz J. Abstract Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer type globally and contributes significantly to burden of disease in South Asia. In Pakistan, HNSCC is among the most commonly diagnosed cancer in males and females. The increasing regional burden of HNSCC along with a unique set of risk factors merited a deeper investigation of the disease at the genomic level. Whole exome sequencing of HNSCC samples and matched normal genomic DNA analysis (n=7) was performed. Significant somatic single nucleotide variants (SNVs) were identified and pathway analysis performed to determine frequently affected signaling pathways. We identified significant, novel recurrent mutations in ASNS (asparagine synthetase) that may affect substrate... Tipo: Info:eu-repo/semantics/article Palavras-chave: Head and neck squamous cell carcinoma (HNSCC); Whole exome sequencing; Driver mutation; Novel mutation; Pakistani population. Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400526 Role of MyD88-adaptor-like gene polymorphism rs8177374 in modulation of malaria severity in the Pakistani population BJID Rani,Asima; Nawaz,Syed Kashif; Irfan,Shazia; Arshad,Muhammad; Bashir,Razia; Shaheen,Najma. Abstract Introduction: The present study was designed to investigate the association between rs8177374 polymorphism and malaria symptoms due to exposure of Plasmodium vivax and Plasmodium falciparum. Materials and methods: A total of 454 samples were included in the study (228 malaria patients and 226 healthy individuals). Malaria patients, divided into P. vivax and P. falciparum groups on the basis of the causative species of Plasmodium, were categorized into mild and severe on the basis of clinical outcomes according to WHO criteria. Healthy individuals were used as controls. Allele specific PCR based strategy was used for the identification of rs8177374 SNP. Results: MyD88-adaptor-like gene polymorphism was associated with susceptibility to malaria... Tipo: Info:eu-repo/semantics/article Palavras-chave: Malaria; Plasmodium; Rs8177374; MAL; Pakistani population. Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702017000400418 Registros recuperados: 2 Primeira ... 1 ... Última

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