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1081por Cádiz, Leandro, Torres, Alexia, Valdés, Raúl, Vera, Gabriel, Gutiérrez, Daniela, Levine, Myron M., Montero, David A., O’Ryan, Miguel, Rasko, David A., Stine, O. Colin, Vidal, Roberto, Del Canto, Felipe“…These CFs, along with the recently discovered CS30, belong to the γ(2) family of pili assembled by the chaperone-usher pathway (CU pili). Further, the complete CS26 locus, crsHBCDEFG, was described in an O141 ETEC strain (ETEC 100664) obtained from a diarrhea case in The Gambia, during the Global Enterics Multicenter Study. …”
Publicado 2018
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1082por Calabro, Kaitlyn R., Boye, Sanford L., Choudhury, Shreyasi, Fajardo, Diego, Peterson, James J., Li, Wei, Crosson, Sean M., Kim, Mi-Jung, Ding, Dalian, Salvi, Richard, Someya, Shinichi, Boye, Shannon E.“…Usher’s syndrome is the most common combined blindness–deafness disorder with USH1B, caused by mutations in MYO7A, resulting in the most severe phenotype. …”
Publicado 2019
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1083por Gao, Feng-Juan, Hu, Fang-Yuan, Xu, Ping, Qi, Yu-He, Li, Jian-Kang, Zhang, Yong-Jin, Chen, Fang, Chang, Qing, Song, Fang, Shen, Si-Mai, Xu, Ge-Zhi, Wu, Ji-Hong“…BACKGROUND: Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be diagnosed at all. …”
Publicado 2019
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1084por Abu‐Ameerh, Mohammed, Mohammad, Hashim, Dardas, Zain, Barham, Raghda, Ali, Dema, Bijawi, Maysa, Tawalbeh, Mohamed, Amr, Sami, Hatmal, Ma'mon M., Al‐Bdour, Muawyah, Awidi, Abdalla, Azab, Belal“…Also, a family that was previously diagnosed with nonsyndromic RP was found to have Usher syndrome based on their genetic assessment and audiometry. …”
Publicado 2020
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1085por Zhu, Xiong, Li, Xiao, Tian, Wanli, Yang, Yeming, Sun, Kuanxiang, Li, Shuzhen, Zhu, Xianjun“…Retinitis pigmentosa (RP) is a group of inheritable blindness retinal diseases characterized by the death of photoreceptor cells and a gradual loss of peripheral vision. Mutations in Usher syndrome type 2 (USH2A) have been reported in RP with or without hearing loss. …”
Publicado 2020
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1086por Chen, Justin A., Chung, Wei-Jean, Young, Sarah K., Tuttle, Margaret C., Collins, Michelle B., Darghouth, Sarah L., Longley, Regina, Levy, Raymond, Razafsha, Mahdi, Kerner, Jeffrey C., Wozniak, Janet, Huffman, Jeff C.“…We then review key changes that were implemented at the federal, state, professional, and insurance levels over a one-month period that helped usher in an unprecedented transformation in psychiatric care delivery, from mostly in-person to mostly virtual. …”
Publicado 2020
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1087por Boisen, Nadia, Østerlund, Mark T., Joensen, Katrine G., Santiago, Araceli E., Mandomando, Inacio, Cravioto, Alejandro, Chattaway, Marie A., Gonyar, Laura A., Overballe-Petersen, Søren, Stine, O. Colin, Rasko, David A., Scheutz, Flemming, Nataro, James P.“…An exception was strains that harbored an ETEC colonization factor (CF) CS22, like AAF a member of the chaperone-usher family of adhesins, but not phylogenetically related to the AAF family. …”
Publicado 2020
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1088por Mei, Christine, Dong, Hongsong, Nisenbaum, Eric, Thielhelm, Torin, Nourbakhsh, Aida, Yan, Denise, Smeal, Molly, Lundberg, Yesha, Hoffer, Michael E., Angeli, Simon, Telischi, Fred, Nie, Guohui, Blanton, Susan H., Liu, Xuezhong“…With advances in genetic sequencing, evidence of familial clustering in VD has begun to highlight the genetic causes of these disorders, potentially opening up new avenues of treatment, particularly in Meniere's disease and disorders with comorbid hearing loss, such as Usher syndrome. In this review, we aim to present recent findings on the genetics of VDs, review the role of genetic sequencing tools, and explore the potential for individualized medicine in the treatment of these disorders. …”
Publicado 2021
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1089por Souissi, Amal, Ben Said, Mariem, Ben Ayed, Ikhlas, Elloumi, Ines, Bouzid, Amal, Mosrati, Mohamed Ali, Hasnaoui, Mehdi, Belcadhi, Malek, Idriss, Nabil, Kamoun, Hassen, Gharbi, Nourhene, Gibriel, Abdullah A., Tlili, Abdelaziz, Masmoudi, Saber“…METHODS: We customized a Haloplex(HS) kit to include 30 genes known to be associated with autosomal recessive nonsyndromic HI (ARNSHI) and Usher syndrome in North Africa. RESULTS: In accordance with the ACMG/AMP guidelines, we report 11 pathogenic variants; as follows; five novel variants including three missense (ESRRB-Tyr295Cys, MYO15A-Phe2089Leu and MYO7A-Tyr560Cys) and two nonsense (USH1C-Gln122Ter and CIB2-Arg104Ter) mutations; two previously reported mutations (OTOF-Glu57Ter and PNPT1-Glu475Gly), but first time identified among Tunisian families; and four other identified mutations namely WHRN-Gly808AspfsX11, SLC22A4-Cys113Tyr and two MYO7A compound heterozygous splice site variants that were previously described in Tunisia. …”
Publicado 2021
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1090por Sun, Ju, Sun, Ruifang, Li, Chao, Luo, Xun, Chen, Jiemei, Hong, Jiena, Zeng, Yan, Wang, Qing Mei, Wen, Hongmei“…Expression of Nogo receptor-1 (NgR1), the endogenous antagonist lateral olfactory tract usher substance, ras homolog family member A (Rho-A), and RhoA-activated Rho kinase (ROCK) was examined in the ipsilateral thalamus. …”
Publicado 2021
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1091por Dahawi, Maha, Elmagzoub, Mohamed S., A. Ahmed, Elhami, Baldassari, Sara, Achaz, Guillaume, Elmugadam, Fatima A., Abdelgadir, Wasma A., Baulac, Stéphanie, Buratti, Julien, Abdalla, Omer, Gamil, Sahar, Alzubeir, Maha, Abubaker, Rayan, Noé, Eric, Elsayed, Liena, Ahmed, Ammar E., Leguern, Eric“…Results: In a family including three sibs with GGE-TCS, we identified a rare missense variant in ADGRV1 encoding an adhesion G protein-coupled receptor V1, which was already involved in the autosomal recessive Usher type C syndrome. In addition, five other ADGRV1 rare missense variants were identified in four additional families and absent from 119 Sudanese controls. …”
Publicado 2021
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1092por Mueller, Tanja, Kerr, Steven, McTaggart, Stuart, Kurdi, Amanj, Vasileiou, Eleftheria, Docherty, Annemarie, Fraser, Kenny, Shi, Ting, Simpson, Colin R, Bennie, Marion, Sheikh, Aziz“…Publications will be available on the EAVE II website (https://www.ed.ac.uk/usher/eave-ii/key-outputs/our-publications), alongside lay summaries and infographics aimed at the general public. …”
Publicado 2021
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1093“…Variants in the CDH23 gene are known to be responsible for both syndromic hearing loss (Usher syndrome type ID: USH1D) and non-syndromic hearing loss (DFNB12). …”
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1094“…Four virulence genes which correlate with pathogenicity in animal models, were used for the first time for detection of ExPEC—vat (vacuolating auto-transporter toxin), fyuA (yersiniabactin receptor), chuA (heme-binding protein), and yfcV (major subunit of putative chaperon-usher fimbria). Most E. coli belonged to phylogenetic groups A (65[45%]) and B1 (34[24.3%]). …”
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1095“…Five proteins namely flagellar hook protein (FlgE), fimbria biogenesis outer membrane usher protein, Type IV pilus secretin (PilQ), cytochrome c4, flagellar hook basal body complex protein (FliE) were tested for positive for antigenic, non-toxic, and soluble epitopes during predication of B-cell derived T-cell epitopes. …”
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1096“…As modern computational and statistical techniques usher in a new paradigm of data-intensive scientific research and discovery, the rate at which the field of materials science and engineering capitalizes on these advances hinges on collaboration between numerous stakeholders. …”
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1097por Alzarea, Sami I.“…Next in the B-cell-derived T-cell epitopes mapping phase, the 3 proteins (Fe2(+−) enterobactin, ABC transporter substrate-binding protein, and fimbriae biogenesis outer membrane usher protein) were tested positive for antigenicity, toxicity, and solubility. …”
Publicado 2022
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1098por Rodríguez-Galván, Lilia Carolina, Abbas, Asad, Ar, Anil Yasin, Garza-González, Beatriz, Alonso-Galicia, Patricia Esther“…This study suggests that when the courses transitioned from face-to-face to online learning, the professors’ feedback changed to a more positive feeling that expressed appreciation for the students’ work, encouraging them to strive for their complete academic development, and usher them into a better learning environment.…”
Publicado 2022
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1099“…BACKGROUND: Variants in the MYO7A gene are increasingly identified among patients suffering from Usher syndrome type 1B (USH1B). However, such mutations are less commonly detected among patients suffering from nonsyndromic hearing loss (NSHL), including autosomal recessive deafness (DFNB2) and autosomal dominant deafness (DFNA11). …”
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1100“…Confronting the five major factors identified here may help us usher in a new era of precision medicine without its discriminatory counterpart.…”
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