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Mar 2017 DOI 10.14302/issn.2326-0793.jpgr-17-1447
Timothy D. HowardCorresponding author
Factors that contribute to the onset of atherosclerosis may be elucidated by bioinformatic techniques applied to multiple sources of genomic and proteomic data. The results of genome wide association studies, such as the CardioGramPlusC4D study, expression data, such as that available from expressio…
Jul 2020 DOI 10.14302/issn.2576-6694.jbbs-20-3450
Magdy M. MahmoudCorresponding author
Background Hyperphenylalaninemia (HPA) combined with neurological signs due to impaired catecholamine, dopamine and serotonin synthesis. Symptoms may appears in first week of life but most seen in age of 4 months. Atypical PKU disease caused mainly by deficiency in 6-pyruvoyltetrahydropterin synthas…
Jun 2017 DOI 10.14302/issn.2576-9359.jot-17-1603
Carlotta CapraraCorresponding author
Single-nucleotide polymorphisms (SNPs) in genes involved in immune responses and in the pharmacokinetics/pharmacodynamics of immunosuppressive drugs influence transplant outcomes of patients receiving the same immunosuppressive therapy. The aim of our preliminary study was to determine the SNPs prof…
Feb 2016 DOI 10.14302/issn.2374-9431.jbd-15-890
Norman E. BurokerCorresponding author
Purpose Signal Transducer and Activator of Transcription 4 (STAT4) is important for signaling by interleukins (IL-12 and IL-23) and type 1 interferons and has been found to have several simple nucleotide polymorphisms (SNPs) associated with human disease. STAT4 SNPs were computationally examined wit…
Feb 2016 DOI 10.14302/issn.2326-0793.jpgr-15-889
Norman E. BurokerCorresponding author
Purpose The endothetal Per-Arnt-Sim (PAS) domain protein 1 (EPAS1) gene which encodes hypoxia-inducible-factor-2 alpha (HIF2a) is a transcription factor that is involved in the response to hypoxia. EPAS1 has been found to have four (rs56721780, rs6756667, rs7589621, rs1868092) simple nucleotide poly…
May 2013 DOI 10.14302/issn.2324-7339.jcrhap-12-140
Leona DoldCorresponding author
Analyzing SNPs linked to fatty liver disease, this study finds no association with HAART‑related hepatic steatosis in HIV patients. The work underscores the multifactorial nature of antiretroviral toxicity and points to metabolic and pharmacologic contributors beyond common variants.