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9201Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Casespor Blanco-Kelly, Fiona, García Hoyos, María, Lopez Martinez, Miguel Angel, Lopez-Molina, Maria Isabel, Riveiro-Alvarez, Rosa, Fernandez-San Jose, Patricia, Avila-Fernandez, Almudena, Corton, Marta, Millan, Jose M., García Sandoval, Blanca, Ayuso, Carmen“…CONCLUSIONS: This study highlights the importance of p.Gly56Arg in the NR2E3 gene as a common mutation associated with adRP, and provides new clues to its phenotype, which can allow for a better clinical management and genetic counselling of patients and their families.…”
Publicado 2016
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9202“…CONCLUSION: The vitamin D receptor gene TaqI allele polymorphism might be associated with a PCa risk, especially in Asians, which might provide new clues for the pathogenesis research and clinical diagnosis of PCa in the future.…”
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9203por Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela“…The aims of this study were: to establish clinical clues potentially associated with pathogenic CNVs and to identify cytogenetic indicators to predict the pathogenicity of the variants of uncertain significance (VOUS) in a large cohort of paediatric patients. …”
Publicado 2016
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9204por Grether, Judith K., Ashwood, Paul, Van de Water, Judy, Yolken, Robert H., Anderson, Meredith C., Torres, Anthony R., Westover, Jonna B., Sweeten, Thayne, Hansen, Robin L., Kharrazi, Martin, Croen, Lisa A.“…Conclusion: Patterns seen in these selected immunoglobulins may provide clues to mechanisms of early abnormalities in neurodevelopment contributing to ASD. …”
Publicado 2016
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9205“…The comparative analysis of differential response of salt sensitive and salt tolerant lines is a judicious approach to obtain essential clues towards understanding the acquisition of salinity tolerance in rice plants. …”
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9206“…BACKGROUND: The first clues to the process of gamete activation date back to nearly 60 years ago. …”
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9207por Andlauer, Till F. M., Buck, Dorothea, Antony, Gisela, Bayas, Antonios, Bechmann, Lukas, Berthele, Achim, Chan, Andrew, Gasperi, Christiane, Gold, Ralf, Graetz, Christiane, Haas, Jürgen, Hecker, Michael, Infante-Duarte, Carmen, Knop, Matthias, Kümpfel, Tania, Limmroth, Volker, Linker, Ralf A., Loleit, Verena, Luessi, Felix, Meuth, Sven G., Mühlau, Mark, Nischwitz, Sandra, Paul, Friedemann, Pütz, Michael, Ruck, Tobias, Salmen, Anke, Stangel, Martin, Stellmann, Jan-Patrick, Stürner, Klarissa H., Tackenberg, Björn, Then Bergh, Florian, Tumani, Hayrettin, Warnke, Clemens, Weber, Frank, Wiendl, Heinz, Wildemann, Brigitte, Zettl, Uwe K., Ziemann, Ulf, Zipp, Frauke, Arloth, Janine, Weber, Peter, Radivojkov-Blagojevic, Milena, Scheinhardt, Markus O., Dankowski, Theresa, Bettecken, Thomas, Lichtner, Peter, Czamara, Darina, Carrillo-Roa, Tania, Binder, Elisabeth B., Berger, Klaus, Bertram, Lars, Franke, Andre, Gieger, Christian, Herms, Stefan, Homuth, Georg, Ising, Marcus, Jöckel, Karl-Heinz, Kacprowski, Tim, Kloiber, Stefan, Laudes, Matthias, Lieb, Wolfgang, Lill, Christina M., Lucae, Susanne, Meitinger, Thomas, Moebus, Susanne, Müller-Nurasyid, Martina, Nöthen, Markus M., Petersmann, Astrid, Rawal, Rajesh, Schminke, Ulf, Strauch, Konstantin, Völzke, Henry, Waldenberger, Melanie, Wellmann, Jürgen, Porcu, Eleonora, Mulas, Antonella, Pitzalis, Maristella, Sidore, Carlo, Zara, Ilenia, Cucca, Francesco, Zoledziewska, Magdalena, Ziegler, Andreas, Hemmer, Bernhard, Müller-Myhsok, Bertram“…Our GWAS approach in a defined population with limited genetic substructure detected associations not found in larger, more heterogeneous cohorts, thus providing new clues regarding MS pathogenesis.…”
Publicado 2016
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9208“…In addition, the kinematic graphs of median nerve developed in the present study provide new clues for further studies on the pathophysiology of CTS, and alerting smartphone users to establish proper postural habits when using handheld electronic devices.…”
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9209por Quistgaard, Esben M., Weininger, Ulrich, Ural-Blimke, Yonca, Modig, Kristofer, Nordlund, Pär, Akke, Mikael, Löw, Christian“…Our results furthermore provide important clues to the catalytic mechanism and support the notion of inter-domain cross talk. …”
Publicado 2016
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9210por Li, Zhe-Zhen, Wang, Feng, Zhang, Zi-Chen, Wang, Fang, Zhao, Qi, Zhang, Dong-Sheng, Wang, Feng-Hua, Wang, Zhi-Qiang, Luo, Hui-Yan, He, Ming-Ming, Wang, De-Shen, Jin, Ying, Ren, Chao, Qiu, Miao-Zhen, Ren, Jian, Pan, Zhi-Zhong, Li, Yu-Hong, Shao, Jiao-Yong, Xu, Rui-Hua“…Knowledge of these multiple gene mutation patterns may give clues in exploring interesting accompanying co-occurrence relationship or mutually exclusive relationship between mutated genes, as well as in predicting benefit of all-wild-type patients from anti-EGFR treatment.…”
Publicado 2016
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9211por Yuan, Songli, Li, Rong, Wang, Lei, Chen, Haifeng, Zhang, Chanjuan, Chen, Limiao, Hao, Qingnan, Shan, Zhihui, Zhang, Xiaojuan, Chen, Shuilian, Yang, Zhonglu, Qiu, Dezhen, Zhou, Xinan“…Overall, our results provide useful information or clues for our understanding of the functional diversity of legume cystatin family proteins in soybean nodulation and nodule development and for finding nodule-specific cysteine proteases in soybean.…”
Publicado 2016
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9212por Wang, Shuo, Song, Jieyun, Shang, Xiaorui, Chawla, Nitesh, Yang, Yide, Meng, Xiangrui, Wang, Haijun, Ma, Jun“…CONCLUSION: This is the first study to report the interaction between the PNPLA3 rs738409 polymorphism and physical activity or sedentary behavior on NAFLD, providing new clues on the function of the PNPLA3 gene, which will also be useful for future risk assessment and personalized treatment of NAFLD. …”
Publicado 2016
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9213por Xiao, Xiaorong, Hong, Yuhui, Xia, Wei, Feng, Shipeng, Zhou, Xi, Fu, Xiumei, Zang, Jian, Xiao, Yong, Niu, Xiaolei, Li, Chunxia, Chen, Yinhua“…Our study shows the main adaptive pathway of C. tagal in saline environments, under short-term and long-term treatments of salt stress. This provides vital clues as to which genes may be candidates for breeding salt-tolerant crops and clarifying molecular mechanisms of salt tolerance in C. tagal. …”
Publicado 2016
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9214por Yin, Peng, Keirstead, Natalie D, Broering, Teresa J, Arnold, Michelle M, Parker, John SL, Nibert, Max L, Coombs, Kevin M“…Comparisons of these newly determined M1 and μ2 sequences with newly determined M1 and μ2 sequences from nine additional field isolates and a variety of laboratory T3D clones identified conserved features and/or regions that provide clues about μ2 structure and function. CONCLUSIONS: The findings suggest a model for the domain organization of μ2 and provide further evidence for a role of μ2 in viral RNA synthesis. …”
Publicado 2004
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9215por Belak, Andrej, Madarasova Geckova, Andrea, van Dijk, Jitse P., Reijneveld, Sijmen A.“…CONCLUSIONS: Our summary provides a comprehensive and conveniently structured basis for grounded thinking about the intermediary social determinants of health within segregated Roma communities in Slovakia and beyond. It offers novel clues regarding how certain determinants might vary therein; how they might be contributing to health-deterioration; and how they might be causally inter-linked here. …”
Publicado 2017
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9216por Li, Xuyan, Xie, Xin, Li, Ji, Cui, Yuhai, Hou, Yanming, Zhai, Lulu, Wang, Xiao, Fu, Yanli, Liu, Ranran, Bian, Shaomin“…Further, the expression patterns of the five newly identified MIR166s and 12 target genes were examined during seed development and in response to abiotic stresses, which provided important clues for dissecting their functions and isoform specificity. …”
Publicado 2017
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9217por Nie, Chun-Hong, Wan, Shi-Ming, Tomljanovic, Tea, Treer, Tomislav, Hsiao, Chung-Der, Wang, Wei-Min, Gao, Ze-Xia“…These findings could provide important clues towards further understanding of fish skeletal system and the roles of proteins playing in regulating diverse biological processes in fish. …”
Publicado 2017
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9218por Yoon, Seo-Yeon, Kwon, Soon-Gu, Kim, Yong Ho, Yeo, Ji-Hee, Ko, Hyoung-Gon, Roh, Dae-Hyun, Kaang, Bong-Kiun, Beitz, Alvin J, Lee, Jang-Hern, Oh, Seog Bae“…This study provides new clues into the mechanisms underlying pain deficits associated with SIB and deserves further study in patients with ASD.…”
Publicado 2017
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9219“…The results not only show the drug-resistance determinants of FGFR1 gatekeeper mutation but also provide valuable implications and provide vital clues for the development of new inhibitors to combat drug resistance.…”
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9220por Mou, Tong, Zhu, Di, Wei, Xufu, Li, Tingting, Zheng, Daofeng, Pu, Junliang, Guo, Zhen, Wu, Zhongjun“…CONCLUSIONS: The roles of DEMs like hsa-mir-221 in HCC through interactions with DEGs such as ESR1 and CXCL12 may provide new clues for the diagnosis and treatment of HCC patients. …”
Publicado 2017
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