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1061“…We demonstrate that targeted adaptive long-read sequencing on the Oxford Nanopore Technologies (ONT) platform of the USH2A gene from three probands in a family with the most common cause of the syndromic IRD, Usher Syndrome, resulted in greater than 12-fold target gene sequencing enrichment on average. …”
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1062por Naseer Khan, R.M., Ahn, Yong-Mo, Marriner, Gwendolyn A., Via, Laura E., D’Hooge, Francois, Lee, Seung Seo, Yang, Nan, Basuli, Falguni, White, Alexander G., Tomko, Jaime A., Frye, L. James, Scanga, Charles A., Weiner, Danielle M., Sutphen, Michelle L., Schimel, Daniel M., Dayao, Emmanuel, Piazza, Michaela K., Gomez, Felipe, Dieckmann, William, Herscovitch, Peter, Mason, N. Scott, Swenson, Rolf, Kiesewetter, Dale O., Backus, Keriann M., Geng, Yiqun, Raj, Ritu, Anthony, Daniel C., Flynn, JoAnne L., Barry, Clifton E., Davis, Benjamin G.“…We anticipate that this distributable technology to generate clinical-grade [(18)F]FDT directly from the widely-available clinical reagent [(18)F]FDG, without need for either bespoke radioisotope generation or specialist chemical methods and/or facilities, could now usher in global, democratized access to a TB-specific PET tracer.…”
Publicado 2023
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1063por Van Eyssen, Shelly Roselyn, Samarkina, Anastasia, Isbilen, Ovgu, Zeden, Merve Suzan, Volkan, Ender“…Uropathogenic Escherichia coli express hairlike proteinaceous surface projections, known as chaperone–usher pathway (CUP) pili. Type 1 pili are CUP pili with well-established pathogenic properties. …”
Publicado 2023
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1064por Fowler, Douglas M., Adams, David J., Gloyn, Anna L., Hahn, William C., Marks, Debora S., Muffley, Lara A., Neal, James T., Roth, Frederick P., Rubin, Alan F., Starita, Lea M., Hurles, Matthew E.“…Generating maps for every protein encoding gene and regulatory element in the human genome would create an ‘Atlas’ of variant effect maps and transform our understanding of genetics and usher in a new era of nucleotide-resolution functional knowledge of the genome. …”
Publicado 2023
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1065por Kao, Ting-Wan, Bai, Geng-Hao, Wang, Tian-Li, Shih, Ie-Ming, Chuang, Chi-Mu, Lo, Chun-Liang, Tsai, Meng-Chen, Chiu, Li-Yun, Lin, Chu-Chien, Shen, Yao-An“…This review focuses on how HIF inhibitors could be applied in conjunction with current cancer treatments, including those now being evaluated in clinical trials, to usher in a new era of cancer therapy.…”
Publicado 2023
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1066“…With the solution of follow-up related problems and the application of novel technologies, telemedicine may usher in greater development.…”
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1067por Sun, Leming, Liu, Hongmei, Ye, Yanqi, Lei, Yang, Islam, Rehmat, Tan, Sumin, Tong, Rongsheng, Miao, Yang-Bao, Cai, Lulu“…By harnessing the potential of smart nanoparticles, this review aims to usher in a new era of precise and personalized cancer therapy, providing patients with individualized treatment options.…”
Publicado 2023
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1068por Nam, Dong Woo, Song, Yong Keun, Kim, Jeong Hun, Lee, Eun Kyoung, Park, Kyu Hyung, Cha, JuHyuen, Choi, Byung Yoon, Lee, Jun Ho, Oh, Seung Ha, Jo, Dong Hyun, Lee, Sang-Yeon“…Genotype–phenotype correlations for Usher syndrome type 2 (USH2) suggest that the USH2A gene exhibits an allelic hierarchy. …”
Publicado 2023
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1069por Giese, Christoph, Puorger, Chasper, Ignatov, Oleksandr, Bečárová, Zuzana, Weber, Marco E., Schärer, Martin A., Capitani, Guido, Glockshuber, Rudi“…The results show that the natural length distribution of adhesive pili formed via the chaperone-usher pathway results from a stochastic chain termination reaction. …”
Publicado 2023
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1070por Geller, Scott F., Guerin, Karen I., Visel, Meike, Pham, Aaron, Lee, Edwin S., Dror, Amiel A., Avraham, Karen B., Hayashi, Toshinori, Ray, Catherine A., Reh, Thomas A., Bermingham-McDonogh, Olivia, Triffo, William J., Bao, Shaowen, Isosomppi, Juha, Västinsalo, Hanna, Sankila, Eeva-Marja, Flannery, John G.“…Mutations in the CLRN1 gene cause Usher syndrome type 3 (USH3), a human disease characterized by progressive blindness and deafness. …”
Publicado 2009
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1071“…Based on our results, new protein interactions potentially associated with Usher and Bardet-Biedl syndromes were predicted. …”
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1072por Gervasi, Vincenzo, Nilsen, Erlend B, Sand, Håkan, Panzacchi, Manuela, Rauset, Geir R, Pedersen, Hans C, Kindberg, Jonas, Wabakken, Petter, Zimmermann, Barbara, Odden, John, Liberg, Olof, Swenson, Jon E, Linnell, John D C“…By using periodic Leslie–Usher matrices and a simulation approach together with parameters obtained from long-term field projects, we reconstructed the underlying mechanisms of predator–prey demographic interactions and compared the dynamics of the roe deer–red fox–Eurasian lynx–human harvest system with those of the moose–brown bear–gray wolf–human harvest system in the boreal forest ecosystem of the southern Scandinavian Peninsula. 3. …”
Publicado 2012
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1073por Méndez-Vidal, Cristina, González-del Pozo, María, Vela-Boza, Alicia, Santoyo-López, Javier, López-Domingo, Francisco J., Vázquez-Marouschek, Carmen, Dopazo, Joaquin, Borrego, Salud, Antiñolo, Guillermo“…In silico prediction tools were used to determine mutational impact on protein function and the structure of the identified variants. RESULTS: Novel Usher syndrome type 2A (USH2A) compound heterozygous mutations, c.4325T>C (p.F1442S) and c.15188T>G (p.L5063R), located in exons 20 and 70, respectively, were identified as probable causative mutations for RP in this family. …”
Publicado 2013
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1074por Trecker, Molly A., Waldner, Cheryl, Jolly, Ann, Liao, Mingmin, Gu, Weiming, Dillon, Jo-Anne R.“…The bacterium can produce serious complications in those infected, and emerging resistance to third generation cephalosporins could usher in an era of potentially untreatable gonorrhea. …”
Publicado 2014
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1075por Mutai, Hideki, Suzuki, Naohiro, Shimizu, Atsushi, Torii, Chiharu, Namba, Kazunori, Morimoto, Noriko, Kudoh, Jun, Kaga, Kimitaka, Kosaki, Kenjiro, Matsunaga, Tatsuo“…These genes were ACTG1, DFNA5, POU4F3, SLC26A5, SIX1, MYO7A, CDH23, PCDH15, and USH2A, suggesting that a variety of genes underlie early-childhood hearing loss in Japanese patients. Mutations in Usher syndrome-related genes were detected in three families, including one double heterozygous mutation of CDH23 and PCDH15. …”
Publicado 2013
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1076por Berrocal, Liliana, Fuentes, Juan A, Trombert, A Nicole, Jofré, Matías R, Villagra, Nicolás A, Valenzuela, Luis M, Mora, Guido C“…Typhi) stg operon, encoding a chaperone/usher fimbria (CU), contributes to an increased adherence to human epithelial cells. …”
Publicado 2015
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1077por Álvarez-Fraga, Laura, Pérez, Astrid, Rumbo-Feal, Soraya, Merino, María, Vallejo, Juan Andrés, Ohneck, Emily J., Edelmann, Richard E., Beceiro, Alejandro, Vázquez-Ucha, Juan C., Valle, Jaione, Actis, Luis A., Bou, Germán, Poza, Margarita“…The first step in the process of establishing an infection is adherence of the bacteria to target cells. Chaperone-usher pili assembly systems are involved in pilus biogenesis pathways that play an important role in adhesion to host cells and tissues as well as medically relevant surfaces. …”
Publicado 2016
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1078por Smith, Claire E L, Poulter, James A, Levin, Alex V, Capasso, Jenina E, Price, Susan, Ben-Yosef, Tamar, Sharony, Reuven, Newman, William G, Shore, Roger C, Brookes, Steven J, Mighell, Alan J, Inglehearn, Chris F“…The clinical overlap of HS with the more common Usher syndrome and lack of peroxisomal abnormalities on plasma screening suggest that HS may be under-diagnosed. …”
Publicado 2016
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1079por Baux, D., Vaché, C., Blanchet, C., Willems, M., Baudoin, C., Moclyn, M., Faugère, V., Touraine, R., Isidor, B., Dupin-Deguine, D., Nizon, M., Vincent, M., Mercier, S., Calais, C., García-García, G., Azher, Z., Lambert, L., Perdomo-Trujillo, Y., Giuliano, F., Claustres, M., Koenig, M., Mondain, M., Roux, A. F.“…Pathogenic genotypes were identified in 19 different genes, with a high prevalence of GJB2, STRC, MYO15A, OTOF, TMC1, MYO7A and USH2A. Involvement of an Usher gene was reported in 16% of the genotyped cohort. …”
Publicado 2017
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1080por Kalas, Vasilios, Hibbing, Michael E., Maddirala, Amarendar Reddy, Chugani, Ryan, Pinkner, Jerome S., Mydock-McGrane, Laurel K., Conover, Matt S., Janetka, James W., Hultgren, Scott J.“…Uropathogenic Escherichia coli (UPEC) employs multiple chaperone–usher pathway pili tipped with adhesins with diverse receptor specificities to colonize various host tissues and habitats. …”
Publicado 2018
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