نتایج جستجو برای: dmd 7814 percent
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The absence of the cytoskeletal protein dystrophin results in Duchenne muscular dystrophy (DMD). The utrophin protein is the best candidate for dystrophin replacement in DMD patients. To obtain therapeutic levels of utrophin expression in dystrophic muscle, we developed an alternative strategy based on the use of artificial zinc finger transcription factors (ZF ATFs). The ZF ATF 'Jazz' was rece...
Growth rate was assessed in 187 boys affected with Duchenne muscular dystrophy (DMD) and bone age in 127 among them. Patients' heights were compared with their normal sibs, with expected stature according to midparents' stature and with normal Brazilian children of comparable age. The results showed that DMD boys have a normal length and weight at birth, but a delayed growth starting during the...
Although sexual dimorphism is ubiquitous in animals, the means by which sex determination mechanisms trigger specific modifications to shared structures is not well understood. In C. elegans, tail tip morphology is highly dimorphic: whereas hermaphrodites have a whip-like, tapered tail tip, the male tail is blunt-ended and round. Here we show that the male-specific cell fusion and retraction th...
High-fidelity large-eddy simulations are suitable to obtain insight into the complex flow dynamics in extended wind farms. In order better understand these dynamics, we use dynamic mode decomposition (DMD) analyze and reconstruct field large-scale numerically simulated farms by (LES). Different farm layouts considered, find that a combination of horizontal vertical staggering leads improved per...
INTRODUCTION Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disease that affects one in 3500 live-born males. The total absence of dystrophin observed in DMD patients is generally caused by mutations that disrupt the reading frame of the DMD gene, and about 80% of cases harbour deletions or duplications of one or more exons. METHODS We reviewed 284 cases of mal...
BACKGROUND Gene expression analysis is powerful for investigating the underlying mechanisms of Duchenne muscular dystrophy (DMD). Previous studies mainly neglected co-expression or transcription factor (TF) information. Here we integrated TF information into differential co-expression analysis (DCEA) to explore new understandings of DMD pathogenesis. METHODS Using two microarray datasets from...
BACKGROUND Femtosecond laser-assisted cataract surgery (FLACS) has grown in popularity among ophthalmologists as a novel technique. However, descemet membrane detachment (DMD) began to be found as the complication after FLACS. We report a case of serious DMD following FLACS due to the inappropriate incision design. CASE PRESENTATION An 85-year-old man with apparent cornea arcus senilis underw...
Serum biomarkers in Duchenne muscular dystrophy (DMD) may provide deeper insights into disease pathogenesis, suggest new therapeutic approaches, serve as acute read-outs of drug effects, and be useful as surrogate outcome measures to predict later clinical benefit. In this study a large-scale biomarker discovery was performed on serum samples from patients with DMD and age-matched healthy volun...
Objective: Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing. Methods: A fluorometric assay based upon the...
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