نتایج جستجو برای: fbat
تعداد نتایج: 120 فیلتر نتایج به سال:
background: genetic diversity of three polymorphic markers in the phenylalanine hydroxylase (pah) gene region including pvu ii (a), pahstr and msp i were investigated. methods: unrelated individuals (n=139) from the iranian populations were genotyped using primers specific to pah gene markers including pvu ii(a), msp i and pahstr. the amplified products for pvu ii(a), msp i were digested using ...
Protein Tyrosine Phosphatase Gene PTPN22 Polymorphism in Psoriasis: Lack of Evidence for Association
LYP, the protein product of the protein tyrosine phosphatase gene PTPN22 located on human chromosome 1p13.2, is involved in downregulation of T cell signaling through its interaction with C-terminal Src tyrosine kinase (Csk) (Cloutier and Veillette, 1996), by phosphorylation of regulatory tyrosines on the Src family kinase Lck (Cloutier and Veillette, 1999). A missense mutation of this gene (C1...
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders with a strong genetic component. Many lines of evidence indicated that ASD shares common genetic variants with other psychiatric disorders (for example, schizophrenia). Previous studies detected that calcium channels are involved in the etiology of many psychiatric disorders including schizophrenia and autism. Significant...
PURPOSE To investigate the association of high myopia with polymorphisms in the hepatocyte growth factor (HGF) gene, a potential candidate for myopia development. METHODS Single nucleotide polymorphisms (SNPs) were screened and identified in the HGF gene region with denaturing high-performance liquid chromatography, and their linkage disequilibrium pattern was established in a Han Chinese pop...
Attention-deficit/hyperactivity disorder (ADHD) is typically characterized by inattention, excessive motor activity, impulsivity, and distractibility. Individuals with ADHD have significant impairment in family and peer relations, academic functioning, and show high co-morbidity with a wide range of psychiatric disorders including oppositional defiant disorder (ODD), conduct disorder (CD), anxi...
آتروفی عضلانی نخاعی پروکسیمال، اختلال ژنتیکی نورون های حرکتی آلفا می باشد که با تحلیل سلولهای شاخ قدامی نخاعی مشخص می گردد. بیماری با ضعف ماهیچه ای و آتروفی که به طور برجسته ماهیچه های پروکسیمال دست و پا را درگیر می کند در ارتباط است. این بیماری به فرم آتوزومی مغلوب می باشد. براساس شدت بیماری و سن شروع علائم، این بیماری به 3 تیپ، شدید werdnig hofmann، متوسط werdnig hofmann وخفیف kugelberg-welan...
هیپرپلازی مادرزادی آدرنالcongenital adrenal hyperplasia ،cah، گروهی از بیماری های متابولیک وراثتی می باشد که به صورت اتوزومی مغلوب به ارث می رسند و باعث ابهام دستگاه تناسلی خارجی در نوزادان مونث می شوند. شایع ترین نوع بیماری cah، کمبود 21-هیدروکسیلاز است که به علت جهش در ژن 21-هیدروکسیلاز (cyp21a2) ایجاد می شود. بیماری کمبود 21-هیدروکسیلاز در دو شکل کلاسیک (شدید) و غیرکلاسیک (خفیف) دیده می شود....
BACKGROUND Tryptase, a major secretory product of human mast cells has been implicated as a key mediator of allergic inflammation. Genetic variation in the tryptases is extensive, and α-tryptase, an allelic variant of the more extensively studied β-tryptase, is absent in substantial numbers of the general population. The degree to which α-tryptase expression may be associated with asthma has no...
UNLABELLED BACKGROUND Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS)...
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