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121.
Lepori MB Lovicu M Dessi V Zappu A Incollu S Zancan L Giacchino R Iorio R Vajro P Maggiore G Marcellini M Barbera C Pellecchia MT Simonetti R Kostic V Farci AM Solinas A De Virgiliis S Cao A Loudianos G 《Genetic testing》2007,11(3):328-332
Herein we report the results of mutation analysis of the ATP7B gene in a group of 134 Wilson disease (WD) families (268 chromosomes) prevalently of Italian origin. Using the SSCP and sequencing methods we identified 71 disease-causing mutations. Twenty-four were novel, while 19 more mutations already described, were identified in new populations in this study. A known mutation G591D showed a regional distribution, since it was only detected in 38.5% of the analyzed chromosomes in WD patients originating from Apulia, a region of South Italy. Detection of new mutations in the ATP7B gene increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD. 相似文献
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Chinese Hamster Ovary fibroblasts (CHO-K1) have shown different protein contents when undergoing differentiation by 3',5'-cyclic adenosine monophosphate (cAMP), which is known to induce reverse transformation (RT) from malignancy to fibroblast-like characteristics. The mass spectrometry (MS) investigation here reported about the behavior of CHO-K1 cells before and after exposure to cAMP reveals a change in the composition of nuclear proteins associated to an inhibition of the protein expression. Possible implications of this finding on the control of cell reverse transformation are discussed. 相似文献
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Emma Strong Darci?T. Butcher Rajat Singhania Carolyn?B. Mervis Colleen?A. Morris Daniel De?Carvalho Rosanna Weksberg Lucy?R. Osborne 《American journal of human genetics》2015,97(2):216-227
Epigenetic dysfunction has been implicated in a growing list of disorders that include cancer, neurodevelopmental disorders, and neurodegeneration. Williams syndrome (WS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders with broad phenotypic spectra caused by deletion and duplication, respectively, of a 1.5-Mb region that includes several genes with a role in epigenetic regulation. We have identified striking differences in DNA methylation across the genome between blood cells from children with WS or Dup7 and blood cells from typically developing (TD) children. Notably, regions that were differentially methylated in both WS and Dup7 displayed a significant and symmetrical gene-dose-dependent effect, such that WS typically showed increased and Dup7 showed decreased DNA methylation. Differentially methylated genes were significantly enriched with genes in pathways involved in neurodevelopment, autism spectrum disorder (ASD) candidate genes, and imprinted genes. Using alignment with ENCODE data, we also found the differentially methylated regions to be enriched with CCCTC-binding factor (CTCF) binding sites. These findings suggest that gene(s) within 7q11.23 alter DNA methylation at specific sites across the genome and result in dose-dependent DNA-methylation profiles in WS and Dup7. Given the extent of DNA-methylation changes and the potential impact on CTCF binding and chromatin regulation, epigenetic mechanisms most likely contribute to the complex neurological phenotypes of WS and Dup7. Our findings highlight the importance of DNA methylation in the pathogenesis of WS and Dup7 and provide molecular mechanisms that are potentially shared by WS, Dup7, and ASD. 相似文献
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First detection of papillomaviruses and polyomaviruses in swimming pool waters: unrecognized recreational water‐related pathogens? 下载免费PDF全文
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Mona-Rita Yacoub Matteo Trimarchi George Cremona Sara Dal Farra Giuseppe Alvise Ramirez Valentina Canti Emanuel Della Torre Mattia Baldini Patrizia Pignatti Mario Bussi Maria Grazia Sabbadini Angelo A Manfredi Giselda Colombo 《Clinical and molecular allergy : CMA》2015,13(1)