علی بخشی, رضا
دانشگاه علوم پزشکی کرمانشاه
[ 1 ] - فراوانی شایعترین جهش مدیترانه‌ای در بیماران فنیل‌کتونوری استان کرمانشاه
زمینه:فنیل‌کتونوری (PKU) یکی از علل مهم عقب‌ماندگی ذهنی در نوزادان محسوب می‌شود و تنها در صورت تشخیص و درمان به‌موقع، عواقب آن قابل پیشگیری است. جهش‌هایی که در ژن فنیل‌آلانین‌هیدروکسیلاز (PAH) رخ می‌دهند عامل تقریباً تمامی موارد PKU هستند. جهش IVS10-11G>A در ژن PAH، شایعترین جهش در ایران و کشورهای حوزه مدیترانه و جنوب اروپاست. هدف از مطالعه حاضر، تعیین فراوانی جهش IVS10-11G>Aدر بیماران PKUاستان ...
[ 2 ] - Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from Kermanshah, Hamadan, and Lorestan provinces) during 2014-2016. Additionally, the results were compared with similar studies in Iran. Nucleotide sequen...
[ 3 ] - Association between Genetic Variants of Nitric Oxide/cGMP Pathway and Susceptibility to Hypertension in Kermanshah Province
Background and purpose: Hypertension is a global health challenge due to its high prevalence and increased risk of cardiovascular disease. It is a multifactorial disease in which both genetic and environmental factors are involved. So far, a number of genes and pathways have been proposed to be associated with HTN, including the nitric oxide/cGMP pathway. To further clarify the role of NO /cGM...
Co-Authors