Materias dentro de su búsqueda.
Mostrando 4,361 - 4,380 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.45s Limitar resultados
  1. 4361
    “…Here, we present another case of infantile SRNS related to novel compound heterozygous variations of LAMA5 (c.3434G > A, p.Cys1145Tyr and c.6883C > T, p.Gln2295*), the first reported case with one missense and one nonsense allele. A 10-month-old female patient presented with eyelid edema and massive proteinuria without any extrarenal symptoms or family history. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Case report: Genetic defects in laminin α5 cause infantile steroid-resistant nephrotic syndrome
  2. 4362
    “…Patient fibroblasts containing the c.1267C>T (p.Arg423Ter) or c.2876del (p.Pro959GlnfsTer24) variants demonstrated nonsense-mediated mRNA decay and reduced RFC1 transcript and protein. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
  3. 4363
    por Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., van den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, van der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., van Waning, Jaap I., Whiffin, Nicola, van den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., van Tintelen, J. Peter, Ingles, Jodie
    Publicado 2022
    “…Further, gene region was important with variants in cases (cohort n=98; Clinvar n=167) more likely to occur in the regions resulting in nonsense mediated decay of both major DSP isoforms, compared with n=124 genome aggregation database control variants (148 [83.6%] versus 29 [16.4%]; P<0.0001). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant
  4. 4364
    “…Gene set enrichment analysis (GSEA) of testes suggested a dysregulation of the nonsense-mediated decay (NMD) pathway, which was also confirmed on qPCR analysis. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Stress decreases spermatozoa quality and induces molecular alterations in zebrafish progeny
  5. 4365
    “…NFIX mutations associated with MAL mainly cluster in exon 2 and are cleared by nonsense‐mediated decay (NMD) leading to NFIX haploinsufficiency, whereas NFIX mutations associated with MSS are clustered in exons 6–10 and escape NMD and result in the production of dominant‐negative mutant NFIX proteins. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X ( NFIX ) Gene Has Phenotypic Features of Marshall‐Smith Syndrome
  6. 4366
    “…The median RBC lifespan of patients with missense, splice and nonsense/insertion/deletion mutations was 16.5 (8–48), 14 (11–40) and 13 (8–20) days, respectively, with no significant difference (P = 0.514). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Genotype-degree of hemolysis correlation in hereditary spherocytosis
  7. 4367
    “…Antisense oligonucleotides and mutations that disrupt the formation of the snoRNA-intron structure promote the splicing of the alternative exon, shifting the EIF4A2 transcript ratio away from nonsense-mediated decay. CONCLUSIONS: Many snoRNAs form RNA duplexes near alternative exons of their host transcripts, placing them in optimal positions to control host output as shown for the SNORD2-EIF4A2 model system. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Intronic small nucleolar RNAs regulate host gene splicing through base pairing with their adjacent intronic sequences
  8. 4368
    “…Out of 74 variants, 42 were missense, 9 nonsense, 12 frameshifts, 1 indel, 5 affected the splicing regions and 5 were copy number variants. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Clinical utility of genetic testing in Indian children with kidney diseases
  9. 4369
    “…In P3 and P4 (novel cases), hemizygous nonsense mutations, c.216T > A/p.C72X were found. Lastly, in P5 (also a novel case), a hemizygous missense mutation, c.732T > G/p.C244W was detected. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients
  10. 4370
    “…Further analysis revealed that several alternatively spliced Pkhd1 mRNA, all containing exon 48, were expressed in cyli kidneys, but in lower abundance than in wild-type kidneys, suggesting that these transcripts escaped from nonsense-mediated decay (NMD). We identified an AAAAAT motif in exon 48 upstream of the cyli mutation which could enable ribosomal frameshifting, thus potentially allowing production of sufficient amounts of FPC for renoprotection. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Pkhd1(cyli/cyli) mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease
  11. 4371
    “…Genetic testing revealed a pathogenic germline heterozygous nonsense variant in CDC73 (c.376C>T(p.Arg126Ter)) resulting in protein truncation. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    FRI692 Severe Hyperparathyroidism And Nephrolithiasis In An Adolescent Male Due To CDC73 Positive Parathyroid Carcinoma
  12. 4372
    “…Loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay is expected. The c.1875del CEL variant is classified as likely pathogenic, and it correlated with our patient's clinical and biochemical findings. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    SAT079 A Novel Variant In The Carboxyl Ester Lipase (CEL) Gene Causing MODY
  13. 4373
    “…We comprehensively screened LMNA for genetic variation that is likely to alter the lamin A/C proteins, including missense, nonsense, splicing or frameshift variants. We identified 7 missense variants in 8 cases and no variants in reproductively healthy controls (χ(2)= 3.1, p=0.081, OR > 1.78, with study controls; χ(2)= 46.8, p<1x10(-8), OR= 8.5 with gnomAD non-Finnish European cohort population controls). …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    FRI458 Rare Pathogenic Missense Variants in LMNA Identified in Women with Polycystic Ovary Syndrome (PCOS)
  14. 4374
    por Tarkoff, Joshua
    Publicado 2023
    “…Commercial genetic testing was notable for a previously unreported heterozygous nonsense mutation, c.3001C>T (p.Gln1001X). It is expected to disrupt the final 78 amino acids of the protein in its intracellular domain and may play a role in preventing downstream signaling. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    THU236 Mild Asymptomatic Hypercalcemia Secondary To A Novel Calcium-sensing Receptor Mutation
  15. 4375
    por Wang, Yu, Jin, Qin, Zhang, Shu, Wang, Yan
    Publicado 2023
    “…SMG5 is associated with immune cell infiltration in HCC. Multiple nonsense-mediated mRNA processes require the involvement of SMG5. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Overexpression of TMEM79 combined with SMG5 is related to prognosis, tumor immune infiltration and drug sensitivity in hepatocellular carcinoma
  16. 4376
    “…In 49 families, 50 new mutations were identified, including: 29 missense mutations (N34K, T41I, D93V, R112S, L166G, G171D, M187T, S201Y, S201F, D234E, W236R, D264Y, M267R, V269M, G271S, G271V, S276G, Q283P, A285P, A285D, M290I, P293T, Q312H, Q321R, G328V, E338K, A348P, E358A, Q386P); nine nonsense mutations (C56X, E79X, K127X, Y151X, Y173X, L177X, W262X, Q306X, E338X); five splicing defects (IVS4-1G > A, IVS5-2A > G, IVS5 + 3A > G, IVS5 + 4A > G, IVS6-1G > C); four small deletions (18delA, 457delGAC, 567delG, 1096delACCAT); one small insertion (996insC); one 3.1 kilobase Alu-Alu deletion (which included exon 2); and one complex mutation (K374R, 1124delGAG). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
  17. 4377
    por Elbers, Clara C., Guo, Yiran, Tragante, Vinicius, van Iperen, Erik P. A., Lanktree, Matthew B., Castillo, Berta Almoguera, Chen, Fang, Yanek, Lisa R., Wojczynski, Mary K., Li, Yun R., Ferwerda, Bart, Ballantyne, Christie M., Buxbaum, Sarah G., Chen, Yii-Der Ida, Chen, Wei-Min, Cupples, L. Adrienne, Cushman, Mary, Duan, Yanan, Duggan, David, Evans, Michele K., Fernandes, Jyotika K., Fornage, Myriam, Garcia, Melissa, Garvey, W. Timothy, Glazer, Nicole, Gomez, Felicia, Harris, Tamara B., Halder, Indrani, Howard, Virginia J., Keller, Margaux F., Kamboh, M. Ilyas, Kooperberg, Charles, Kritchevsky, Stephen B., LaCroix, Andrea, Liu, Kiang, Liu, Yongmei, Musunuru, Kiran, Newman, Anne B., Onland-Moret, N. Charlotte, Ordovas, Jose, Peter, Inga, Post, Wendy, Redline, Susan, Reis, Steven E., Saxena, Richa, Schreiner, Pamela J., Volcik, Kelly A., Wang, Xingbin, Yusuf, Salim, Zonderland, Alan B., Anand, Sonia S., Becker, Diane M., Psaty, Bruce, Rader, Daniel J., Reiner, Alex P., Rich, Stephen S., Rotter, Jerome I., Sale, Michèle M., Tsai, Michael Y., Borecki, Ingrid B., Hegele, Robert A., Kathiresan, Sekar, Nalls, Michael A., Taylor, Herman A., Hakonarson, Hakon, Sivapalaratnam, Suthesh, Asselbergs, Folkert W., Drenos, Fotios, Wilson, James G., Keating, Brendan J.
    Publicado 2012
    “…Initial discovery and in silico follow-up in 7,000 additional African American samples, confirmed two novel loci: rs5030359 within ICAM1 is associated with total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) (p = 8.8×10(−7) and p = 1.5×10(−6) respectively) and a nonsense mutation rs3211938 within CD36 is associated with high-density lipoprotein cholesterol (HDL-C) levels (p = 13.5×10(−12)). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations
  18. 4378
    “…In each spontaneous mutant, we found either a non-synonymous substitution, a nonsense mutation, or a frame-shift mutation caused by single nucleotide polymorphisms or a 5 base pair insertion in csaB. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Whole genome sequencing of phage resistant Bacillus anthracis mutants reveals an essential role for cell surface anchoring protein CsaB in phage AP50c adsorption
  19. 4379
    “…This included 13 early protein termination mutations (nonsense/frameshift, deletion, splice site) but no patients carried these in combination, suggesting the human phenotype is at least partly hypomorphic. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
  20. 4380
    por Prando, Carolina, Samarina, Arina, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Cobat, Aurelie, Picard, Capucine, AlSum, Zobaida, Al-Jumaah, Suliman, Al-Hajjar, Sami, Frayha, Husn, Al-Mousa, Hamoud, Ben-Mustapha, Imen, Adimi, Parisa, Feinberg, Jacqueline, de Suremain, Maylis, Jannière, Lucile, Filipe-Santos, Orchidée, Mansouri, Nahal, Stephan, Jean-Louis, Nallusamy, Revathy, Kumararatne, Dinakantha S., Bloorsaz, Mohamad Reza, Ben-Ali, Meriem, Elloumi-Zghal, Houda, Chemli, Jalel, Bouguila, Jihene, Bejaoui, Mohamed, Alaki, Emadia, AlFawaz, Tariq S., Al Idrissi, Eman, ElGhazali, Gehad, Pollard, Andrew J., Murugasu, Belinda, Wah Lee, Bee, Halwani, Rabih, Al-Zahrani, Mohammed, Al Shehri, Mohammed A., Al-Zahrani, Mofareh, Bin-Hussain, Ibrahim, Mahdaviani, Seyed Alireza, Parvaneh, Nima, Abel, Laurent, Mansouri, Davood, Barbouche, Ridha, Al-Muhsen, Saleh, Casanova, Jean-Laurent
    Publicado 2013
    “…There are only 9 different mutant alleles of the IL12B gene: 2 small insertions, 3 small deletions, 2 splice site mutations, and 1 large deletion, each causing a frameshift and leading to a premature stop codon, and 1 nonsense mutation. Four of these 9 variants are recurrent, affecting 25 of the 30 reported kindreds, due to founder effects in specific countries. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Inherited IL-12p40 Deficiency: Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds
Herramientas de búsqueda: RSS