Materias dentro de su búsqueda.
Materias dentro de su búsqueda.
Filosofía
3
Administración industrial
1
Aspectos sociales
1
Ciencia
1
Colonias en la literatura
1
Comportamiento social en los animales
1
Comunicación en administración
1
Conciencia (Psicología)
1
Conflictos culturales en la literatura
1
Delphi (Programas para computadora)
1
Desarrollo
1
Diseño
1
Emociones
1
En la literatura
1
Errores populares
1
Estilo
1
Etica
1
Fotografía digital
1
Gramática
1
Gráficos por computadora
1
Historia y crítica
1
Imperialismo en la literatura
1
Inglés
1
Lenguaje y lenguas
1
Libre albedrío y determinismo
1
Limericks
1
Limericks juveniles
1
Literatura moderna
1
Medium is the massage
1
Mente y cuerpo
1
-
4341“…This syndrome is an autosomal recessive disease resulting from mutations in the SMG9 gene, which encodes a critical component of nonsense-mediated mRNA decay. Thus far, only twelve SMG9 deficiency patients have been reported with five novel homozygous SMG9 mutations. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4342por Szabó, Edina, Csuka, Dorottya, Andrási, Noémi, Varga, Lilian, Farkas, Henriette, Szilágyi, Ágnes“…By applying Sanger sequencing or copy number determination of SERPING1 exons, 48 different mutations were detected in 66/68 families: 5 large and 15 small insertions/deletions/delins, 16 missense, 6 nonsense, and 6 intronic splice site mutations. Two novel variations (p.Tyr199Ser [c.596A>C] and the duplication of exon 7) were shown to cosegregate with deficient C1-inhibitor level and activity, while two other variations were detected in single patients (c.797_800delinsCTTGGAGCTCAAGAACTTGGAGCT and c.812dup). …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4343por Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B., Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G., Taylor, J. Paul“…All disease-causing frameshift mutations abolish the native stop codon and extend the reading frame, creating novel transcripts that escape nonsense-mediated decay and are translated to produce hnRNPA2/B1 protein with the same neomorphic C-terminal sequence. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4344por Li, Jun, Steffen, Pascal, Tse, Benita C. Y., Ahadi, Mahsa S., Gill, Anthony J., Engel, Alexander F., Molloy, Mark P.“…No MSI-H specimens carried nonsense mutations in HRR genes. These findings add to our knowledge of early T stage CRC and highlight a potential therapeutic vulnerability in the HRR pathway of TMB-H MSS CRC.…”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4345por Tang, Vincent Duong, Egense, Alena, Yiu, Glenn, Meyers, Elijah, Moshiri, Ala, Shankar, Suma P.“…Genetic testing included a ciliopathy panel that was negative followed by WGS that identified biallelic variants in ALMS: a novel frame-shift pathogenic variant c.6525dupT (p.Gln2176Serfs*17) and a rare nonsense pathogenic variant c.2035C > T (p.Arg679Ter) consistent with Alstrom syndrome. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4346“…Meantime, critical mutations were identified in two alleles of PmUFGT3 in the green-skinned type is inactivated by seven nonsense mutations in the coding region, which leads to seven amino acid substitution, resulting in an inactive UFGT enzyme. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4347por Bain, Jennifer M., Snyder, LeeAnne Green, Helbig, Katherine L., Cooper, Dominique D., Chung, Wendy K., Goodspeed, Kimberly“…Carriers in Searchlight had 83 unique pathogenic or likely pathogenic variants in SLC6A1, which were predominantly missense or nonsense variants. There was no significant difference between groups for the prevalence of developmental delay, ASD, or ADHD. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4348por Wang, Jun, Sun, Xinrong, Jiao, Lianying, Xiao, Zhengtao, Riaz, Farooq, Zhang, Yufeng, Xu, Pengfei, Liu, Ruiqing, Tang, Tiantian, Liu, Meiqi, Li, Dongmin“…The genetic test revealed that the main variant types of the GPD1 gene were missense variants (51.6%), followed by splicing variants (35.5%) and nonsense variants (12.9%). Of patients, 87.1% had homozygous variants, with the most frequent loci being c.361-1G > C and c.895G > A. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4349por Kim, Kyoung Min, Ahn, Ae-Ri, Park, Ho Sung, Jang, Kyu Yun, Moon, Woo Sung, Kang, Myoung Jae, Ha, Gi Won, Lee, Min Ro, Chung, Myoung Ja“…Positive IHC expression of p53 was significantly associated with overall survival (OS) of CRC patients by univariate analysis and was revealed as an independent prognostic factor by multivariate analysis. Additionally, the nonsense/frameshift p53 expression pattern showed a significantly better prognosis than the wild type and missense p53 expression patterns. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4350por Liu, Bing, Hu, Yuqiang, Wan, Lixia, Wang, Luan, Cheng, Liangjun, Sun, Hai, Liu, Yaran, Wu, Di, Zhu, Jiefei, Hong, Xiu, Li, Yang, Zhou, Chong“…Moreover, the heatmap revealed that the expressions of RNA translation-related proteins and proteins involved in RNA metabolism, such as IGF2R, tenascin C (TNC), periostin (POSTN), proteasome 26S subunit ATPase 4 (PSMC4), serpin family A member 3 (SERPINA3), heat shock protein family B (small) member 6 (HSPB6), osteoglycin (OGN), chaperonin containing TCP1 subunit 6A (CCT6A), and chaperonin containing TCP1 subunit 6B (CCT6B), were prominently elevated in the tumor group. Nonsense-mediated RNA decay (NMD), RNA translation, and protein stability were significantly altered in LC tumors. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4351por Gasser, Benedikt, Flück, Martin, Frey, Walter O., Valdivieso, Paola, Spörri, Jörg“…Results: The genotype distribution deviated from Hardy–Weinberg equilibrium for the ACTN3 genotype, where rs1815739-TT genotypes (corresponding to the nonsense mutation) were overrepresented in world-class skiers, indicating a slow muscle fibre phenotype. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4352por Thomas, Quentin, Motta, Marialetizia, Gautier, Thierry, Zaki, Maha S., Ciolfi, Andrea, Paccaud, Julien, Girodon, François, Boespflug-Tanguy, Odile, Besnard, Thomas, Kerkhof, Jennifer, McConkey, Haley, Masson, Aymeric, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Trochu, Eva, Vignard, Virginie, El It, Fatima, Rodan, Lance H., Alkhateeb, Mohammad Ayman, Jamra, Rami Abou, Duplomb, Laurence, Tisserant, Emilie, Duffourd, Yannis, Bruel, Ange-Line, Jackson, Adam, Banka, Siddharth, McEntagart, Meriel, Saggar, Anand, Gleeson, Joseph G., Sievert, David, Bae, Hyunwoo, Lee, Beom Hee, Kwon, Kisang, Seo, Go Hun, Lee, Hane, Saeed, Anjum, Anjum, Nadeem, Cheema, Huma, Alawbathani, Salem, Khan, Imran, Pinto-Basto, Jorge, Teoh, Joyce, Wong, Jasmine, Sahari, Umar Bin Mohamad, Houlden, Henry, Zhelcheska, Kristina, Pannetier, Melanie, Awad, Mona A., Lesieur-Sebellin, Marion, Barcia, Giulia, Amiel, Jeanne, Delanne, Julian, Philippe, Christophe, Faivre, Laurence, Odent, Sylvie, Bertoli-Avella, Aida, Thauvin, Christel, Sadikovic, Bekim, Reversade, Bruno, Maroofian, Reza, Govin, Jérôme, Tartaglia, Marco, Vitobello, Antonio“…Through international data sharing, we identified 23 individuals from 15 unrelated families with bi-allelic TMEM147 loss-of-function variants, including splice-site, nonsense, frameshift, and missense variants. These affected children displayed congruent clinical features including coarse facies, developmental delay, intellectual disability, and behavioral problems. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4353“…RESULTS: A novel paternal missense mutation, c.205G > C (p.A69P), and a recurrent maternal nonsense mutation, c.1200 C > G (p.Y400*), of SUOX were identified in a 4-year-old boy from 312 probands. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4354por Jacobs, An, Hannes, Laurens, Rochtus, Anne, Casteels, Kristina, Atzori, Marta, Attanasio, Catia, Pelgrims, Elise, Breckpot, Jeroen, de Zegher, Francis“…This ZRSR2 variant escapes nonsense mediated decay and segregates in this family according to an X-linked recessive pattern. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4355“…Twelve missense mutations, 6 nonsense mutations, 6 frameshift mutations, 2 in‐frame deletion mutations, and 1 splice site mutation was found. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4356por Li, Meiying, Fu, Qin, Xiang, Liangxu, Zheng, Yingwei, Ping, Wenjing, Cao, Yongjun“…There is a wide spectrum of mutation types, including frameshift, nonsense, and splice site mutations in addition to deletion and missense mutations. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4357por Chen, Shuaishuai, Du, Juping, Jiang, Huihua, Zhao, Weibo, Wang, Na, Ying, Anna, Li, Jun, Chen, Shiyong, Shen, Bo, Zhou, Yuanlin“…Most reported SETX mutations in AOA2 patients were missense, frameshift and nonsense mutations. CONCLUSION: We discovered a novel homozygous variant of the SETX gene as a cause of AOA2 in the current patient and expanded the genotypic spectrum of AOA2. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4358por Hu, Dong Gui, Marri, Shashikanth, Hulin, Julie-Ann, McKinnon, Ross A., Mackenzie, Peter I., Meech, Robyn“…Nearly 65% (2260/3427) of the mutations were missense, frame-shift and nonsense mutations that have been predicted to code for variant UGT proteins. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4359por Matveenko, Andrew G., Ryzhkova, Varvara E., Zaytseva, Natalia A., Danilov, Lavrentii G., Mikhailichenko, Anastasia S., Barbitoff, Yury A., Zhouravleva, Galina A.“…Aggregated Sup35 causes defects in termination of translation, which results in nonsense suppression in strains carrying premature stop codons. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto -
4360por Yang, Shangying, Li, Zhen, Cheng, Wanyu, Ma, Meijiao, Qi, Rui, Rui, Xue, Ren, Yinghua, Sheng, Xunlun, Rong, Weining“…A total of 9 variants on the BEST1 gene were identified, containing 7 missense variants, 1 nonsense variant, and 1 frameshift variant, respectively, of which 3 variants c.88A > G (p.Lys30Glu), c.764G > A (p.Arg255Gln) and c.233dupT (p.Ser79Phefs*153) were novel variants. …”
Publicado 2022
Enlace del recurso
Enlace del recurso
Enlace del recurso
Online Artículo Texto