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Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
Francesco Calì,Giuseppa Ruggeri,Mirella Vinci,Concetta Meli,Carla Carducci,Vincenzo Leuzzi,Simone Pozzessere,Pietro Schinocca,Alda Ragalmuto,Valeria Chiavetta,Salvatore Miccichè,Valentino Romano 생화학분자생물학회 2010 Experimental and molecular medicine Vol.42 No.2
A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH)alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel electrophoresis (DGGE), denaturing high performance liquid chromatography (DHPLC), and direct sequencing. In recent years, it has been shown that a significant proportion of undetermined alleles consist of large deletions overlapping one or more exons. These deletions have been difficult to detect in compound heterozygotes using gene-scanning methods due to a masking effect of the non-deleted allele. To date, no systematic search has been carried out for such exon deletions in Italian patients with phenylketonuria or mild hyperphenylalaninemia. We used multiplex ligation-dependent probe amplification (MLPA), comparative multiplex dosage analysis (CMDA), and real-time PCR to search for both large deletions and duplications of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemia patients. Four deletions removing different phenylalanine hydroxylase (PAH) gene exons were identified in 12 patients. Two of these deletions involving exons 4-5-6-7-8(systematic name c.353-?_912 + ?del) and exon 6(systematic name c.510-?_706 + ?del) have not been reported previously. In this study, we show that exon deletion of the PAH gene accounts for 1.7% of all mutant PAH alleles in Italian hyperphenylalaninemics.
Francesco Calì,Alda Ragalmuto,Valeria Chiavetta,Giuseppe Calabrese,Marco Fichera,Mirella Vinci,Giuseppa Ruggeri,Pietro Schinocca,Maurizio Sturnio,Salvatore Romano,IRCCS Oasi Maria SS,Valentino Romano 생화학분자생물학회 2010 Experimental and molecular medicine Vol.42 No.12
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations of the E3 ubiquitin protein ligase (UBE3A) gene. However,some of suspected cases of AS are still scored negative to all the latter mutations. Recently, it has been shown that a proportion of negative cases bear large deletions overlapping one or more exons of the UBE3A gene. These deletions are difficult to detect by conventional gene-scanning methods due to the masking effect by the non-deleted allele. In this study, we have used for the first time multiplex ligation-dependent probe amplification (MLPA) and comparative multiplex dosage analysis (CMDA) to search for large deletions affecting the UBE3A gene. Using this approach, we identified a novel causative deletion involving exon 8 in an affected sibling. Based on our results, we propose the use of MLPA as a fast, accurate and inexpensive test to detect large deletions in the UBE3A gene in a small but significant percentage of AS patients.
Francesca Sanguedolce,Beppe Calò,Marco Chirico,Ugo Falagario,Gian Maria Busetto,Magda Zanelli,Alessandra Bisagni,Maurizio Zizzo,Stefano Ascani,Giuseppe Carrieri,Luigi Cormio 대한병리학회 2021 Journal of Pathology and Translational Medicine Vol.55 No.4
Urothelial carcinoma with an inverted growth pattern (UC-IGP) is a peculiar entity within the spectrum of urothelial lesions. While efforts have been made over the last few decades to unravel its carcinogenesis and relationship with conventional urothelial carcinoma, the exact classification of inverted urothelial lesions is a matter of debate. The morphological features of UC-IGP pose several issues in differential diagnosis with other mostly benign lesions. Various techniques, including immunohistochemistry, UroVysion, and many molecular methods, have been employed to study the exact nature of this lesion. The aim of this review is to provide a comprehensive overview of the morphological and immunophenotypical aspects of UC-IGP. Moreover, we present and discuss the immunohistochemical and molecular markers involved in diagnosis and prognosis of UC-IGP lesions.
Pathomechanism of oxidative stress in cardiovascularrenal remodeling and therapeutic strategies
Ravarotto Verdiana,Bertoldi Giovanni,Stefanelli Lucia Federica,Nalesso Federico,Calò Lorenzo A. 대한신장학회 2022 Kidney Research and Clinical Practice Vol.41 No.5
The high prevalence of cardiovascular disease in patients with chronic kidney disease indicates significant interactions between pathogenic pathways operating in the kidney and heart. These interactions involve all cell types (endothelial cells, smooth muscle cells, macrophages, and others), components of the vasculature, glomeruli, and heart that are susceptible to oxidative damage and structural alterations. A vicious cycle occurs whereby harmful factors such as reactive oxygen species and inflammation damage of vascular structures that themselves become sources of additional dangerous/toxic components released into the local environment. The evidence of this vicious cycle in chronic kidney disease should therefore lead to add other factors to both traditional and nontraditional risk factors. This review will examine the processes occurring during progressive kidney dysfunction with regard to vascular injury, renal remodeling, cardiac hypertrophy, and the transversal role of oxidative stress in the development of these complications.
What You Need to Know about Mental Nerve Surgical Anatomy for Transoral Thyroidectomy
Antonella Pino,Andrea Parafioriti,Ettore Caruso,Maria De Pasquale,Paolo Del Rio,Pietro Giorgio Calò,Gianlorenzo Dionigi,Francesco Stagno d'Alcontres 대한갑상선-내분비외과학회 2019 The Koreran journal of Endocrine Surgery Vol.19 No.4
A probabilistic analysis of Miner’s law for different loading conditions
Sergio Blasón,José A.F.O. Correia,Abílio M.P. De Jesus,Rui A.B. Calçada,Alfonso Fernández-Canteli 국제구조공학회 2016 Structural Engineering and Mechanics, An Int'l Jou Vol.60 No.1
In this paper, the normalized variable V=(log N-B)(log Δσ-C), as derived from the probabilistic S-N field of Castillo and Canteli, is taken as a reference for calculation of damage accumulation and probability of failure using the Miner number in scenarios of variable amplitude loading. Alternative damage measures, such as the classical Miner and logarithmic Miner, are also considered for comparison between theoretical lifetime prediction and experimental data. The suitability of this approach is confirmed for it provides safe lifetime prediction when applied to fatigue data obtained for riveted joints made of a puddle iron original from the Fão bridge, as well as for data from experimental programs published elsewhere carried out for different materials (aluminium and concrete specimens) under distinct variable loading histories.
Taiwan’s Increasingly Boxed-in Economy: Economic Performance and Democratization
Cal Clark,Alexander C. Tan 한국학술연구원 2012 Korea Observer Vol.43 No.1
Taiwan’s economic miracle of the 1950s through the 1980s is certainly coming under challenge as economic growth has slowed while inequality has increased. To some and probably a large extent, this is the inevitable result of the country’s current transformation from an industrial to an “information age” economy. We suggest, however,that some challenges that the country faces can be considered to be the “costs of success” of its past economic miracle. In this paper, we argue that these economic strains result from an “increasingly boxed-in economy” in which previous opportunities for rapid growth have been curtailed. Furthermore, Taiwan’s very successful democratization the late 1980s and early 1990s which has some-times been called a “political miracle” has seemingly exacerbated some of the economic problems.