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3421por Jin, Zixue, Burrage, Lindsay C, Jiang, Ming‐Ming, Lee, Yi‐Chien, Bertin, Terry, Chen, Yuqing, Tran, Alyssa, Gibbs, Richard A, Jhangiani, Shalini, Sutton, V Reid, Rauch, Frank, Lee, Brendan, Jain, Mahim“…As a result, the aberrant insertion of this intronic fragment generated a frameshift pathogenic variant and induced nonsense‐mediated decay. Furthermore, gene expression by quantitative PCR showed SERPINF1 expression was dramatically reduced in patient fibroblasts, and PEDF level was also significantly reduced in the patient's plasma. …”
Publicado 2018
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3422por Shiozawa, Yusuke, Malcovati, Luca, Gallì, Anna, Sato-Otsubo, Aiko, Kataoka, Keisuke, Sato, Yusuke, Watatani, Yosaku, Suzuki, Hiromichi, Yoshizato, Tetsuichi, Yoshida, Kenichi, Sanada, Masashi, Makishima, Hideki, Shiraishi, Yuichi, Chiba, Kenichi, Hellström-Lindberg, Eva, Miyano, Satoru, Ogawa, Seishi, Cazzola, Mario“…Here we report transcriptomic analyses of 265 bone marrow samples from myelodysplasia patients, followed by a validation using CRISPR/Cas9-mediated gene editing and an assessment of nonsense-mediated decay susceptibility. Small but widespread reduction of intron-retaining isoforms is the most frequent splicing alteration in SF3B1-mutated samples. …”
Publicado 2018
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3423“…In all plant lineages examined, the SKI7 gene is subject to regulation by alternative splicing that can yield unproductive transcripts, either by removing deeply conserved SKI7 coding sequences, or by introducing premature stop codons that render SKI7 susceptible to nonsense-mediated decay. Taking a comparative, evolutionary approach, we define crucial features of the SKI7 protein shared by all eukaryotes, and use these deeply conserved features to identify SKI7 proteins in invertebrate lineages. …”
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3424por David, Marjorie P., Venkatramani, Rajkumar, Lopez-Terrada, Dolores H., Roy, Angshumoy, Patil, Ninad, Fisher, Kevin E.“…Targeted next-generation sequencing of the tumor revealed a SMARCA4 c.1141C>T, p.Arg381Ter (NM_001128849.1) nonsense mutation and an in-frame 18-bp TP53 deletion (c.594_611del18, p.Gly199_Glu204del, NM_001126112.2). …”
Publicado 2018
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3425por Lin, Ying, Gao, Hongbin, Zhu, Yi, Chen, Chuan, Li, Tao, Liu, Bingqian, Lyu, Cancan, Huang, Ying, Li, Haichun, Wu, Qingxiu, Jin, Chenjin, Liang, Xiaoling, Huang, Xinhua, Lu, Lin“…Patient 2 was presented with aniridia, congenital cataract, lens subluxation and glaucoma. A recurrent nonsense mutation c.718C>T (p.Arg240X) in exon 9 was identified in this patient. …”
Publicado 2018
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3426“…Both mutations are homozygous viable although N140fs transcripts are subject to nonsense-mediated decay and lack any possibility of coding for an active γ-secretase enzyme. …”
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3427por Watanabe, Kenji, Yamamoto, Shigeru, Sakaguti, Syuiti, Isayama, Keishiro, Oka, Masaaki, Nagano, Hiroaki, Mizukami, Yoichi“…Of the somatic mutations validated by a different deep sequencer, a novel nonsense somatic mutation, c.2830 C>T; p.Gln944*, in transcriptional regulator switch-independent 3 family member A (SIN3A) was detected in breast cancer of a patient. …”
Publicado 2018
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3428por Gong, Licheng, Liu, Beihong, Wang, Jing, Pan, Hong, Qi, Anhui, Zhang, Siyang, Wu, Jinyi, Yang, Ping, Wang, Binbin“…METHODS: Four affected members from a Chinese family with Hashimoto’s thyroiditis were selected for whole-exome sequencing. Missense, nonsense, frameshift, or splicing-site variants shared by all affected members were identified after frequency filtering against public and internal exome databases. …”
Publicado 2018
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3429por Li, Yuchan, Wang, Jian, Tang, Jingyan, Wang, Zhigang, Han, Bingqiang, Li, Niu, Yu, Tingting, Chen, Yulin, Fu, Qihua“…We identified 58 distinct mutations in EXT1 and EXT2, including 20 frameshift mutations, 16 nonsense mutations, 7 missense mutations, 9 splice site mutations, 5 large deletions, and 1 in-frame deletion mutation. …”
Publicado 2018
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3430por Pu, Zhening, Sun, Haoliang, Du, Junjie, Cheng, Yue, He, Keshuai, Ni, Buqing, Gu, Weidong, Dai, Juncheng, Shao, Yongfeng“…RESULTS: Two novel loss-of-function indels (c.5027_5028insTGTCCTCC, p.D1677Vfs*8; c.5856delG, p.S1953Lfs*27) and one nonsense variant (c.8034C>A, p.Y2678*) of FBN1 were identified in Family 1, Family 2 and Family 3, respectively. …”
Publicado 2018
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3431por Black, Kathryn L, Naqvi, Ammar S, Asnani, Mukta, Hayer, Katharina E, Yang, Scarlett Y, Gillespie, Elisabeth, Bagashev, Asen, Pillai, Vinodh, Tasian, Sarah K, Gazzara, Matthew R, Carroll, Martin, Taylor, Deanne, Lynch, Kristen W, Barash, Yoseph, Thomas-Tikhonenko, Andrei“…HNRNPA1 3′UTR was most pervasively mis-spliced, yielding the transcript subject to nonsense-mediated decay. To mimic this event, we knocked it down in B-lymphoblastoid cells and identified 213 hnRNPA1-regulated exon usage events comprising the hnRNPA1 splicing signature in pediatric leukemia. …”
Publicado 2018
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3432por Ye, Chun Jimmie, Chen, Jenny, Villani, Alexandra-Chloé, Gate, Rachel E., Subramaniam, Meena, Bhangale, Tushar, Lee, Mark N., Raj, Towfique, Raychowdhury, Raktima, Li, Weibo, Rogel, Noga, Simmons, Sean, Imboywa, Selina H., Chipendo, Portia I., McCabe, Cristin, Lee, Michelle H., Frohlich, Irene Y., Stranger, Barbara E., De Jager, Philip L., Regev, Aviv, Behrens, Tim, Hacohen, Nir“…At baseline and following type 1 interferon stimulation, the major haplotype is associated with low ERAP2 expression caused by nonsense-mediated decay, while the minor haplotype, known to increase Crohn's disease risk, is associated with high ERAP2 expression. …”
Publicado 2018
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3433por Leal, Alejandro, Bogantes-Ledezma, Sixto, Ekici, Arif B., Uebe, Steffen, Thiel, Christian T., Sticht, Heinrich, Berghoff, Martin, Berghoff, Corinna, Morera, Bernal, Meisterernst, Michael, Reis, André“…Using exome sequencing, we now identified a homozygous nonsense variant (p.Gln517ter) in the last exon of an adjacent gene, the polynucleotide kinase 3′-phosphatase (PNKP) gene. …”
Publicado 2018
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3434por Dong, Jingyun, Williams, Nori, Cerrone, Marina, Borck, Christopher, Wang, Dawei, Zhou, Bo, Eng, Lucy S., Subbotina, Ekaterina, Um, Sung Yon, Lin, Ying, Ruiter, Kevin, Rojas, Lisa, Coetzee, William A., Sampson, Barbara A., Tang, Yingying“…FINDINGS: We identified a novel nonsense variant, NP_000229.1:p.Gln1068Ter, in the long QT syndrome type II gene KCNH2 in the decedent. …”
Publicado 2018
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3435por Imperial, Robin, Ahmed, Zaheer, Toor, Omer M., Erdoğan, Cihat, Khaliq, Ateeq, Case, Paul, Case, James, Kennedy, Kevin, Cummings, Lee S., Melton, Niklas, Raza, Shahzad, Diri, Banu, Mohammad, Ramzi, El-Rayes, Bassel, Pluard, Timothy, Hussain, Arif, Subramanian, Janakiraman, Masood, Ashiq“…Hotspot mutation analysis identified a nonsense mutation, APC R1450* specific to RCC. In addition, we discovered new significantly mutated genes at each tumor location, Further in silico proteomic analysis, developed by our group, found distinct central or hub proteins with unique interactomes among each location. …”
Publicado 2018
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3436por San, Bilge, Rougeot, Julien, Voeltzke, Kai, van Vegchel, Gertie, Aben, Marco, Andralojc, Karolina M., Flik, Gert, Kamminga, Leonie M.“…Moreover, the expression pattern in homozygous mutants was identical to that of wild types, indicating that mutant ezh2 mRNA is not subject to nonsense mediated decay (NMD) as predicted. Both wild type and ezh2 mutant embryos presented edemas at 2 and 3 dpf. …”
Publicado 2019
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3437por Ojanen, Markus J. T., Uusi-Mäkelä, Meri I. E., Harjula, Sanna-Kaisa E., Saralahti, Anni K., Oksanen, Kaisa E., Kähkönen, Niklas, Määttä, Juha A. E., Hytönen, Vesa P., Pesu, Marko, Rämet, Mika“…In order to clarify the in vivo significance of Itln3 in immunity, we created nonsense itln3 mutant zebrafish by CRISPR/Cas9 mutagenesis and analyzed the outcome of M. marinum infection in both zebrafish embryos and adult fish. …”
Publicado 2019
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3438por Rao, Shringar, Amorim, Raquel, Niu, Meijuan, Breton, Yann, Tremblay, Michel J., Mouland, Andrew J.“…BACKGROUND: Mammalian cells harbour RNA quality control and degradative machineries such as nonsense-mediated mRNA decay that target cellular mRNAs for clearance from the cell to avoid aberrant gene expression. …”
Publicado 2019
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3439por Abdulazeez, Sayed, Sultana, Shaheen, Almandil, Noor B., Almohazey, Dana, Bency, B. Jesvin, Borgio, J. Francis“…These included 799 in the 5′ untranslated region (UTR), 486 in the 3′ UTR, and 266 non-synonymous, 189 coding synonymous, six nonsense, and six stop-gained SNPs. RESULTS AND DISCUSSION: In silico tools (SIFT, SNAP, PolyPhen-2, PANTHER, I-Mutant, PROVEAN, SNPs&GO, mCSM, and PhD-SNP) predicted the five most-deleterious nsSNPs: rs61742690, rs62142605, rs17028351, rs115666026, and rs74987258. …”
Publicado 2019
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3440“…PARP1 binds RNA and its depletion results in increased expression of genes involved in nonsense-mediated decay, suggesting that PARP1 might be involved in mRNA stability. …”
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