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2961“…Objective: The developmental maturation of forward and backward digit spans—indices of working memory—in boys with nonsense (nm) Duchenne muscular dystrophy (DMD) (nmDMD) was assessed using prospective, longitudinal data. …”
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2962por Seo, Ja Young, Ahn, Jeong-Yeal, Keam, Bhumsuk, Kim, Miso, Yoon, Shinkyo, Lee, Jae Lyun, Park, Kwonoh, Park, Inkeun“…The variants included two nonsense variants, two splicing variants, one frameshift variant, and one missense variant. …”
Publicado 2021
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2963“…RESULTS: The panel detected all 42 pathogenic missense/nonsense/splice-site/indel PHEX-mutations and in one the known homozygous DMP1 mutation. …”
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2964por Słomka, Marcin, Sobalska-Kwapis, Marta, Korycka-Machała, Małgorzata, Dziadek, Jarosław, Bartosz, Grzegorz, Strapagiel, Dominik“…HRM scanning revealed 17 polymorphisms: eight in the exons (including five missense variants and one point-nonsense mutation) and nine in the intron sequences (eight single nucleotide polymorphisms (SNPs) and one deletion variant). …”
Publicado 2020
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2965por Abdelhamed, Zakia, Lukacs, Marshall, Cindric, Sandra, Omran, Heymut, Stottmann, Rolf W.“…Whole-exome sequencing identified this primary ciliary dyskinesia only (Pcdo) allele to be a nonsense mutation (c.5236A>T) in the Spag17 coding sequence creating a premature stop codon (K1746*). …”
Publicado 2020
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2966“…RESULTS: The deletion of exon 7 and the 2397 G>T mutation in exon 7 caused deletion mutation and nonsense mutation only in the HME patients. The mutations in exon 7 were tested and verified by Sanger sequencing. …”
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2967por Zou, Dongfang, Wang, Lin, Wen, Feiqiu, Xiao, Hongdou, Duan, Jing, Zhang, Tongda, Yin, Zhenzhen, Dong, Qiwen, Guo, Jian, Liao, Jianxiang“…A total of three of these were nonsense mutations (novel Gln1072X and recurrent Trp97X and Arg921X), and one was a frameshift mutation (novel Val357Aspfs*15). …”
Publicado 2020
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2968por Bennett, Marc P, Roche, Bryan, Dymond, Simon, Baeyens, Frank, Vervliet, Bram, Hermans, Dirk“…Using a matching-to-sample task, artificial stimulus categories were established using physically dissimilar nonsense shapes. A member of one category (conditioned stimulus; CS1) was then associated with an aversive outcome in an Acquisition context, unless an avoidance response was made. …”
Publicado 2020
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2969por MacKenzie, Katherine C., de Graaf, Bianca M., Syrimis, Andreas, Zhao, Yuying, Brosens, Erwin, Mancini, Grazia M. S., Schot, Rachel, Halley, Dicky, Wilke, Martina, Vøllo, Arve, Flinter, Frances, Green, Andrew, Mansour, Sahar, Pilch, Jacek, Stark, Zornitza, Zamba‐Papanicolaou, Eleni, Christophidou‐Anastasiadou, Violetta, Hofstra, Robert M. W., Jongbloed, Jan D. H., Nicolaou, Nayia, Tanteles, George A., Brooks, Alice S., Alves, Maria M.“…Here, we document nine new patients with variants in KIFBP: seven with nonsense variants and two with missense variants. To our knowledge, this is the first time that missense variants have been reported in GOSHS. …”
Publicado 2020
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2970por Cieśla, Małgorzata, Turowski, Tomasz W, Nowotny, Marcin, Tollervey, David, Boguta, Magdalena“…Rbs1 also binds to Upf1 protein, a key component in nonsense-mediated mRNA decay (NMD) and levels of RPB10 mRNA were increased in a upf1Δ strain. …”
Publicado 2020
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2971por Gürsoy, Semra, Hazan, Filiz, Aykut, Ayça, Nalbantoğlu, Özlem, Korkmaz, Hüseyin Anıl, Demir, Korcan, Özkan, Behzat, Çoğulu, Özgür“…RESULTS: Three different point mutations (two nonsense, one frameshift) and one whole SHOX gene deletion were detected in 15 patients from four different families. …”
Publicado 2020
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2972por Epting, Daniel, Senaratne, Lokuliyange D. S., Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika, Larsen, Selma M., Wallmeier, Julia, Bracht, Diana, Frikstad, Kari‐Anne M., Crowley, Suzanne, Sikiric, Alma, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G., Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S., Omran, Heymut, Davis, Erica E., Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana“…Levels of CBY1 transcript were found reduced in the patients compared with controls, suggesting degradation of the mutated transcript through nonsense‐mediated messenger RNA decay. Accordingly, we could detect CBY1 protein in fibroblasts from controls, but not from patients by immunofluorescence. …”
Publicado 2020
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2973“…RESULTS: WES revealed a previously unreported homozygous nonsense variant (NM_017755.5: c.1004T>A, p.Leu335*) in exon 9 of NSUN2, which was consistent with the clinical phenotype of the patients and co‐segregated with the disease in their family. …”
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2974“…About 10% of cases are due to heterozygous non‐PARM missense, nonsense or frameshift mutations. METHODS: We describe a three‐generation Maltese‐Caucasian family with a variable respiratory/Hirschsprung phenotype, characterized by chronic constipation, three siblings with Hirschsprung disease necessitating surgery, chronic hypoxia, and alveolar hypoventilation requiring non‐invasive ventilation. …”
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2975por Zardadi, Safoura, Razmara, Ehsan, Asgaritarghi, Golareh, Jafarinia, Ehsan, Bitarafan, Fatemeh, Rayat, Sima, Almadani, Navid, Morovvati, Saeid, Garshasbi, Masoud“…(Trp778*) was reported as a nonsense variant causing prelingual ARNSHL. CONCLUSION: These findings can, in turn, endorse how TMC1 and CDH23 screening is critical to detecting HL in Iranian patients. …”
Publicado 2020
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2976“…To minimize this concern, lethal mutations, including nonsense and non-synonymous mutations, have been used to determine mutation rates for several viruses and viroids, including Potato spindle tuber viroid (PSTVd). …”
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2977por Fuchs, Armin, Riegler, Stefan, Ayatollahi, Zahra, Cavallari, Nicola, Giono, Luciana E, Nimeth, Barbara A, Mutanwad, Krishna V, Schweighofer, Alois, Lucyshyn, Doris, Barta, Andrea, Petrillo, Ezequiel, Kalyna, Maria“…Alternative splicing generates multiple transcript and protein isoforms from a single gene and controls transcript intracellular localization and stability by coupling to mRNA export and nonsense-mediated mRNA decay (NMD). RNA interference (RNAi) is a potent mechanism to modulate gene expression. …”
Publicado 2021
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2978por Zhang, Chuan, An, Lisha, Xue, Huiqin, Hao, Shengju, Yan, Yousheng, Zhang, Qinghua, Jin, Xiaohua, Li, Qian, Zhou, Bingbo, Feng, Xuan, Ma, Panpan, Wang, Xing, Chen, Xue, Chen, Cuixia, Cao, Zongfu, Ma, Xu“…RESULTS: Three frameshift variants, two nonsense variants, one missense variant, and one splicing variant of TCOF1 were identified in the seven TCS probands. …”
Publicado 2020
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2979“…We report here that ana3m19 is a suppressor of lethality induced by the overexpression of Sol narae (Sona), a metalloprotease in a disintegrin and metalloprotease with thrombospondin motif (ADAMTS) family. ana3m19 has a nonsense mutation that truncates the highly conserved carboxyl terminal region containing multiple Armadillo repeats. …”
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2980por Minkov, Milen, Zeitlhofer, Petra, Zoubek, Andreas, Kager, Leo, Panzer, Simon, Haas, Oskar A.“…In the two siblings, we identified a known frameshift (c.1601_1602delAT) and a novel nonsense mutation (c.1036C>T) in the GP1BA gene that abrogated the production of GP1bα. …”
Publicado 2021
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