Materias dentro de su búsqueda.
Mostrando 3,181 - 3,200 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.71s Limitar resultados
  1. 3181
    “…This mutation prevents normal splicing and concomitantly generates a stop codon, resulting in nonsense-mediated mRNA decay. Biallelic inactivation of INI1 in the tumours, except for the meningioma, was confirmed by absence of nuclear INI1-protein staining. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome
  2. 3182
    “…The types of mutations identified are nonsense (five out of seven) (hMLH1: E557X, R226X; hMSH2: Q158X, R359X and R711X), a 2 bp deletion (hMSH2 1704_1705delAG) and a 2.2 kb Alu-mediated deletion encompassing exon 3 of the hMSH2 gene. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients
  3. 3183
    “…The p53 mutations in the latter group were not the common missense mutations in exons 4–9, but were predominantly nonsense mutations predicted to result in truncation of the p53 protein. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    p53 missense but not truncation mutations are associated with low levels of p21(CIP1/WAF1) mRNA expression in primary human sarcomas
  4. 3184
    por Sturla, L-M, Merrick, A E, Burchill, S A
    Publicado 2003
    “…Unlike recently described nonsense transcripts of FGFR3, the coding region of FGFR3IIIS remains in-frame producing a novel protein. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    FGFR3IIIS: a novel soluble FGFR3 spliced variant that modulates growth is frequently expressed in tumour cells
  5. 3185
    “…OBJECTIVE—Most pancreatic endocrine cells derive from Ptf1a-expressing progenitor cells. In humans, nonsense mutations in Ptf1a have recently been identified as a cause of permanent neonatal diabetes associated with pancreatic agenesis. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Reduction of Ptf1a Gene Dosage Causes Pancreatic Hypoplasia and Diabetes in Mice
  6. 3186
    “…RESULTS: The MHC LY-6 non-coding transcripts have shown to be stable and very abundant in the cell, and not subject to Nonsense Mediated Decay (NMD). This retention event appears not to be solely dependent on intron features, because in the case of LY6G5B, when the intron is inserted in the artificial context of a luciferase expression plasmid, it is fully spliced but strongly stabilises the resulting luciferase transcript. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Regulation of expression of two LY-6 family genes by intron retention and transcription induced chimerism
  7. 3187
    “…Five novel mutations (one small insertion, one small deletion, one nonsense, one missense, and one splice site) were detected in three families after sequence analysis of USH2A. …”
    Enlace del recurso
    Enlace del recurso
    Texto
    Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
  8. 3188
    “…Using a chemical mutagenesis strategy in mice to identify novel genes involved in immune cell functions, we positionally cloned a nonsense mutation in the Hem1 gene. Hem1 deficiency results in defective F-actin polymerization and actin capping in lymphocytes and neutrophils caused by loss of the Rac-controlled actin-regulatory WAVE protein complex. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    A point mutation in the murine Hem1 gene reveals an essential role for Hematopoietic Protein 1 in lymphopoiesis and innate immunity
  9. 3189
    “…RESULTS: For STRA6, a novel coding non-synonymous sequence variant was found in one subject, resulting in an amino acid change from glycine to glutamic acid in residue 217. One novel nonsense sequence variant found in the same subject changed the STRA6 amino acid residue 592 from cytosine to thymine resulting in a premature stop codon. …”
    Enlace del recurso
    Enlace del recurso
    Texto
    Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia
  10. 3190
    “…Seven frameshift variants (19.4%), three nonsense mutations (8.3%), and one splicing sequence change (2.7%) were also found in STGD chromosomes. …”
    Enlace del recurso
    Enlace del recurso
    Texto
    ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis
  11. 3191
    “…The majority of variants of the SDH genes are missense and nonsense mutations. To date few large deletions of the SDH genes have been described. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients
  12. 3192
    “…We used immunofluorescent histochemistry in skin biopsies to evaluate the presence of type XVIII collagen in four KS patients carrying two already described mutations: c.3277C>T, a nonsense mutation, and c.3601G>A, a missense mutation. …”
    Enlace del recurso
    Enlace del recurso
    Texto
    Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome
  13. 3193
    “…Subsequently, we have identified four different heterozygous mutations (frameshift, nonsense, and no-stop) in the candidate FOXF1 gene in unrelated patients with sporadic ACD/MPV and MCA. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
  14. 3194
    “…We detected somatic mutations in 16 out of 36 cHLs (44%), including missense mutations in 2 out of 16 Epstein-Barr virus–positive (EBV(+)) cHLs and a missense mutation, nonsense mutations, and frameshift-causing insertions or deletions in 14 out of 20 EBV(−) cHLs. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    TNFAIP3 (A20) is a tumor suppressor gene in Hodgkin lymphoma and primary mediastinal B cell lymphoma
  15. 3195
    “…RESULTS: We found P53 gene mutations in 16 cases (15 missense and 1 nonsense). Two of the 15 cases with missense mutations showed alterations based only on cDNA, and not DNA sequencing. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    cDNA sequencing improves the detection of P53 missense mutations in colorectal cancer
  16. 3196
    “…The following probable mutations were identified: 9 nonsense mutations, 6 likely pathogenic missense mutations, 2 frameshifting mutations, one in-frame deletion and probable splice site mutation. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
  17. 3197
    “…These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD). Haploinsufficiency of the gene product (treacle) during embryonic development is the proposed molecular mechanism underlying TCS. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
  18. 3198
    “…Other mutations were nonsense or frame-shifts. The detection sensitivity of the HRM screening method was influenced by both sequence context and specific nucleotide change and varied from 1: 4 to 1:1000 (variant to wild-type DNA). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Rapid detection of SMARCB1 sequence variation using high resolution melting
  19. 3199
    “…In addition to its role in termination, eRF3 is involved in normal and nonsense-mediated mRNA decay through its association with cytoplasmic poly(A)-binding protein (PABP) via PAM2-1 and PAM2-2 motifs in the N-terminal domain of eRF3. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    GTP-dependent structural rearrangement of the eRF1:eRF3 complex and eRF3 sequence motifs essential for PABP binding
  20. 3200
    “…We identified an amber nonsense mutation in Fbn2 in this mouse mutant. Examination of a previously characterised Fbn2-null mutant, Fbn2(fp), identified a similar muscle weakness phenotype. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    ENU Mutagenesis Reveals a Novel Phenotype of Reduced Limb Strength in Mice Lacking Fibrillin 2
Herramientas de búsqueda: RSS