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2521por Becker, Aurélie, Felici, Charlotte, Lambert, Laëtitia, de Saint Martin, Anne, Abi‐Warde, Marie‐Thérèse, Schaefer, Elise, Zix, Christian, Zamani, Mina, Sadeghian, Saeid, Zeighami, Jawaher, Seifi, Tahereh, Azizimalamiri, Reza, Shariati, Gholamreza, Galehdari, Hamid, Selig, Mareike, Ding, Can, Duerinckx, Sarah, Pirson, Isabelle, Abramowicz, Marc, Clément, Guillemette, Leheup, Bruno, Jonveaux, Philippe, Lefort, Geneviève, Bronner, Myriam, Renaud, Mathilde, Bonnet, Céline“…Exome sequencing identified the same homozygous nonsense variant: NM_004722.4(AP4M1):c.1012C>T p.Arg338* (rs146262009). …”
Publicado 2022
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2522“…Here, we describe an infant presenting with five long bone fractures in the first year of life found to have a novel missense variant in trans with a nonsense variant in P3H1 without any other bony anomalies on imaging. …”
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2523por Mironov, Alexei, Petrova, Marina, Margasyuk, Sergey, Vlasenok, Maria, Mironov, Andrey A, Skvortsov, Dmitry, Pervouchine, Dmitri D“…Eukaryotic gene expression is regulated post-transcriptionally by a mechanism called unproductive splicing, in which mRNA is triggered to degrade by the nonsense-mediated decay (NMD) pathway as a result of regulated alternative splicing (AS). …”
Publicado 2023
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2524por Vodopiutz, Julia, Steurer, Lisa-Maria, Haufler, Florentina, Laccone, Franco, Garczarczyk-Asim, Dorota, Hilkenmeier, Matthias, Steinbauer, Philipp, Janecke, Andreas R.“…The aberrant transcript was shown to undergo nonsense-mediated mRNA decay, and thus resulting in SHOX haploinsufficiency in the homozygous patient. …”
Publicado 2023
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2525por Paul, Argho Aninda, Szulc, Natalia A., Kobiela, Adrian, Brown, Sara J., Pokrzywa, Wojciech, Gutowska-Owsiak, Danuta“…Objective: To determine the elements mediating the interaction of profilaggrin with the ubiquitin-proteasome system (i.e., degron motifs and ubiquitination sites), the features responsible for its stability, and the effect of nonsense and frameshift mutations on profilaggrin turnover. …”
Publicado 2023
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2526por Dhasmana, Anupam, Dhasmana, Swati, Agarwal, Shivangi, Khan, Sheema, Haque, Shafiul, Jaggi, Meena, Yallapu, Murali M., Chauhan, Subhash C.“…All these analyzes suggest the presence of three nonsense MUC13 genomic transcripts, two protein transcripts, short MUC13 (s-MUC13, non-tumorigenic or ntMUC13), and long MUC13 (L-MUC13, tumorigenic or tMUC13), several important phosphorylation sites in tMUC13. …”
Publicado 2023
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2527por Bali, Avnika, Schaefer, Samantha P., Trier, Isabelle, Zhang, Alice L., Kabeche, Lilian, Paulsen, Candice E.“…Our results expand the physiological impact of nonsense mutations, reveal a genetically tractable mechanism for selective channel sensitization, uncover insights into the process of TRPA1 gating, and provide an impetus for genetic analysis of patients with CRAMPT or other stochastic pain syndromes.…”
Publicado 2023
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2528por Ratnamala, Uppala, Jain, Nayan K., Jhala, Devendrasinh D, Prasad, Pullabatla V.S., Saiyed, Nazia, Nair, Sreelatha, Radhakrishna, Uppala“…CONCLUSION: We report a new family with a nonsense mutation in the NCSTN gene that supports the role of the γ-secretase complex genes in HS with AC. …”
Publicado 2023
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2529“…Other attractive approaches exclusively applicable for nonsense mutations are the translational read-through (TR) and t-RNA suppressor therapy. …”
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2530por Fazelifar, Amir Farjam, Pourirahim, Maryam, Masoumi, Tannaz, Biglari, Alireza, Maleki, Majid, Kalayinia, Samira“…RESULTS: WES identified an autosomal dominant nonsense variant, c.1425C>A: p.Tyr475Ter, in the KCNH2 gene, which appeared to be the most likely cause of LQTS in this pedigree. …”
Publicado 2023
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2531por Anlay, Degefaye Zelalem, Rivière, Emmanuel, Tu, Pham Hien Trang, Abrams, Steven, Van Rie, Annelies“…The posterior median probability of bedaquiline resistance was low for synonymous mutations in atpE (0.1%) and Rv0678 (3.3%), high for missense mutations in atpE (60.8%) and nonsense mutations in Rv0678 (55.1%), relatively low for missense (31.5%) mutations and frameshift (30.0%) in Rv0678 and low for missense mutations in pepQ (2.6%) and Rv1979c (2.9%), but 95% credible intervals were wide. …”
Publicado 2023
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2532por Jinda, Worapoj, Moungthard, Hathaiwan, Limwongse, Chanin, Pithukpakorn, Manop, Saelee, Pensri, Pokkasup, Nareerat, Khunpukdee, Saipan, Sukthaworn, Suchitraporn, Jumpasri, Jaruphan“…Results Sixteen variants (five nonsense, eight missense, two deletions, and one duplication) in nine genes were identified in 12 patients. …”
Publicado 2023
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2533por Rohn, Troy T, Radin, Dean, Brandmeyer, Tracy, Linder, Barry J, Andriambeloson, Emile, Wagner, Stéphanie, Kehler, James, Vasileva, Ana, Wang, Huaien, Mee, John L, Fallon, James H“…In vivo, at 5 weeks postintranasal delivery in mice, analysis of brain samples revealed single base pair deletions and nonsense mutations, leading to an 8.46-fold reduction in mRNA expression and a corresponding 68% decrease in the 5HT-2A receptor staining. …”
Publicado 2023
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2534por Kozuka-Hata, Hiroko, Hiroki, Tomoko, Miyamura, Naoaki, Kitamura, Aya, Tsumoto, Kouhei, Inoue, Jun-ichiro, Oyama, Masaaki“…Very intriguingly, our RTS-based in-depth proteomic analysis enabled us to identify approximately 5000 novel peptides from the ribosome profiling-based short ORFs encoded in the diversified regions on presumed ‘non-coding’ nucleotide sequences of mRNAs as well as lncRNAs and nonsense mediated decay (NMD) transcripts. Furthermore, TMT-based multiplex large-scale quantification of the whole proteome changes upon differential SAHA treatment unveiled dose-dependent selective translational regulation of a limited fraction of the non-canonical short ORFs in addition to key cell cycle/proliferation-related molecules such as UBE2C, CENPF and PRC1. …”
Publicado 2023
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2535por Bozsik, Anikó, Butz, Henriett, Grolmusz, Vince Kornél, Polgár, Csaba, Patócs, Attila, Papp, János“…Further cDNA assays confirmed, that the aberrant splicing event was complete and its splice product was subject to nonsense-mediated decay. Co-segregation was observed between the variant carrier status and the disease phenotype. …”
Publicado 2023
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2536“…Q3714*) was a heterozygous nonsense mutation that originated from the father. …”
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2537por Seys, François M., Humphreys, Christopher M., Tomi-Andrino, Claudio, Li, Qi, Millat, Thomas, Yang, Sheng, Minton, Nigel P.“…Here, we used the base editors Target-AID and Target-AID-NG to introduce nonsense mutations into four different coding sequences of the industrially relevant Gram-positive bacterium Clostridium autoethanogenum. …”
Publicado 2023
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2538por Fang, Xiaolan, Fee, Timothy, Davis, Jessica, Stolerman, Elliot S., Caylor, Raymond C.“…Here, we report a patient with speech delay, autism spectrum disorder, and a language disorder in which a de novo nonsense ANK3 alteration was discovered by exome sequencing. …”
Publicado 2023
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2539por van Gerven, Michael R., Schild, Linda, van Arkel, Jennemiek, Koopmans, Bianca, Broeils, Luuk A., Meijs, Loes A. M., van Oosterhout, Romy, van Noesel, Max M., Koster, Jan, van Hooff, Sander R., Molenaar, Jan J., van den Boogaard, Marlinde L.“…In contrast to other pediatric cancer where ATRX point mutations are most frequent, multi-exon deletions (MEDs) are the most frequent type of ATRX aberrations in neuroblastoma. 75% of these MEDs are predicted to produce in-frame fusion proteins, suggesting a potential gain-of-function effect compared to nonsense mutations. For neuroblastoma there are only a few patient-derived ATRX aberrant models. …”
Publicado 2023
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2540por Yakıcı, Nalan, Oskay Halaçlı, Sevil, Tan, Çağman, Gür Çetinkaya, Pınar, Akar, Halil T., Çavdarlı, Büşra, Özbek, Begüm, Çağdaş, Deniz, Tezcan, İlhan“…The patient carried a novel homozygous nonsense [(c.787C> T) (p.Arg263Ter)] mutation in the interleukin 17 receptor A gene. …”
Publicado 2023
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