نتایج جستجو برای: aberrant phenotype
تعداد نتایج: 189478 فیلتر نتایج به سال:
the aim of current study is to describe clinical similarities and differences between atopic and non-atopic asthma in children. in a cross-sectional study, 95 asthmatic children (75 allergics and 20 nonallergics) were included in the study. demographic, clinical, and familial history were compared between two groups. there was no significant differences between variables like sex, age of onset ...
landmark based geometric morphometrics and comparison of meristic characters was used to understand potential differences between populations of waspi in mashkil and mokran basins. 97 specimens of waspies were caught (64 from mashkil river and 33 from sarbaz river). 14 landmarks were digitized on pictures taken from left side of specimens and meristic characters were counted. data were analyzed...
FOXC2 mutations cause the lymphatic/ocular disorder Lymphedema-Distichiasis (LD), and Foxc2 haploinsufficient mice mimic this disorder. To determine if FOXC2 overexpression might also cause lymphatic and/or ocular abnormalities, we performed dynamic lymphatic imaging (Evans blue dye), ocular tissue examination, and metabolic profiles in mice: transgenic for FOXC2 with an adipocyte (aP2) promote...
Two BRCA2-like sequences are present in the Arabidopsis genome. Both genes are expressed in flower buds and encode nearly identical proteins, which contain four BRC motifs. In a yeast two-hybrid assay, the Arabidopsis Brca2 proteins interact with Rad51 and Dmc1. RNAi constructs aimed at silencing the BRCA2 genes at meiosis triggered a reproducible sterility phenotype, which was associated with ...
BACKGROUND Mutations of the filamin A locus (FLNA) on Xq28 have been established in girls with periventricular nodular heterotopia and in patients with otopalatodigital and overlapping phenotypes, the pathogenesis of these phenotypes being thought to be quite distinct. To date only six male cases of periventricular nodular heterotopia (PVNH) have been reported and these almost invariably associ...
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. Previous studies have implicated mGlu5 in the pathogenesis of the disease, but a crucial unanswered question is whether pharmacological mGlu5 inhibition is able to reverse an already established FXS phenotype in mammals. Here we have used the novel, potent, and selective mGlu5 inhibitor CTEP to address this i...
The study of genes controlling cytokine activities is among important tasks when assessing predisposition and revealing pathogenetic links initiation course clinical disorders. Aberrant production cytokines dysregulation immune response may be considered genetic predictors associated with differentiation functioning T helpers, being decisive importance in pathogenesis pediatric allergic bronchi...
BACKGROUND AND OBJECTIVES X-linked Alport syndrome is caused by mutations in the COL4A5 gene. Although many COL4A5 mutations have been detected, the mutation detection rate has been unsatisfactory. Some men with X-linked Alport syndrome show a relatively mild phenotype, but molecular basis investigations have rarely been conducted to clarify the underlying mechanism. DESIGN, SETTING, PARTICIP...
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