Materias dentro de su búsqueda.
Mostrando 3,201 - 3,220 Resultados de 4,546 Para Buscar '"nonsense"', tiempo de consulta: 0.17s Limitar resultados
  1. 3201
    “…Coding variants were found in both groups (including a nonsense mutation in a healthy subject), indicating that the pathogenicity of variants found in this gene must be carefully evaluated. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Genetic Variability in CLU and Its Association with Alzheimer's Disease
  2. 3202
    “…Sequence analysis identified a single base change that created a premature nonsense codon, truncating the encoded myb protein. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    A Spontaneous Dominant-Negative Mutation within a 35S::AtMYB90 Transgene Inhibits Flower Pigment Production in Tobacco
  3. 3203
    “…Whole-genome homozygosity mapping with 295 SNP markers and fine mapping with an additional 50 SNPs localized the disease gene to chromosome 7 between 53.9 and 56.3 Mb. A nonsense mutation (c.1273A>T) was located in exon 12 of the Zdhhc13 gene (Zinc finger, DHHC domain containing 13), a gene coding for palmitoyl transferase. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
  4. 3204
    “…In HCA, we identified a specific hot spot at codon 206, nonsense and frameshift mutations mainly in the NH(2)-terminal part, and almost all amino acid substitutions were restricted to the POU-H domain. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Spectrum of HNF1A Somatic Mutations in Hepatocellular Adenoma Differs From That in Patients With MODY3 and Suggests Genotoxic Damage
  5. 3205
    “…We studied the exon sequence of L3MBTL4 in 180 primary tumor samples and 47 cell lines and found six missense and one nonsense heterozygous mutations. Compared with normal breast tissue, L3MBTL4 mRNA expression was downregulated in 73% of the tumors notably in luminal, ERBB2 and normal-like subtypes. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Loss, mutation and deregulation of L3MBTL4 in breast cancers
  6. 3206
    “…Four of the pathogenic point mutations, namely two nonsense, one missense and one splice site change, are novel, whereas the detected genomic deletion encompassing exon 6 of the MLH1 gene has been described repeatedly in the LOVD database. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families
  7. 3207
    “…We presented here two siblings with clinical findings of IGHD due to a nonsense mutation in the GHRHR gene who reached their target height in spite of late GH treatment. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Two Siblings with Isolated GH Deficiency Due to Loss−of−Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation
  8. 3208
    “…METHODS: Two hundred and twelve patients, screened from 7133 cases of nonsyndromic hearing loss in China, with monoallelic mutation (mainly frameshift and nonsense mutation) in the coding region of GJB2 were examined for the GJB2 IVS1+1G>A mutation and mutations in the promoter region of this gene. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2
  9. 3209
    “…Nine genes containing polymorphisms linked with AMPD1 C34T mutation were found in the HapMap database. AMPD1 C34T nonsense mutation is associated with reduced prevalence of diabetes and obesity in patients with CAD or HF, but A860T substitution seems to exert opposite metabolic effects and should always be accounted for in the studies of the AMPD1 genotype.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases
  10. 3210
    “…To study the development of hamartomas, we generated a zebrafish model of TSC featuring a nonsense mutation (vu242) in the tsc2 gene. This tsc2(vu242) allele encodes a truncated Tuberin protein lacking the GAP domain, which is required for inhibition of Rheb and of the TOR kinase within TORC1. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin
  11. 3211
    “…We previously reported a nonsense p27 mutation (c.692G>A, p.W76X) in two patients with MEN1-like phenotype. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    A Novel Germline CDKN1B Mutation Causing Multiple Endocrine Tumors: Clinical, Genetic and Functional Characterization
  12. 3212
    “…These included 7 frameshift mutations (c.61delG, c.408delA, c.521delA, c.1171_1175delCATTCinsA, c.1405_1407delCTCinsT, c.302_308dupAAATAGG, c.1819_1826dupGTTACAGG), 3 nonsense mutations (p.R69X, p.K88X, p.R127X) one of which (p.K88X) mediated the skipping of exon 2, and a splicing mutation (c.1489+1G>A) which induced the partial skipping of exon 13. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease
  13. 3213
    “…Three types of mutations decreased resistance more than did Δfur: substitutions affecting the N-terminal arm; substitutions affecting the metal binding pocket; and nonsense mutations that resulted in a truncated Fur protein with no C-terminal dimerization domain. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Point Mutations in Helicobacter pylori's fur Regulatory Gene that Alter Resistance to Metronidazole, a Prodrug Activated by Chemical Reduction
  14. 3214
    “…The majority of RTT patients carry missense and nonsense mutations leading to a hypomorphic MECP2, while null mutations leading to the complete absence of a functional protein are rare. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation
  15. 3215
    “…Non-functional enzyme resulting from a nonsense mutation in the FUT2 gene leads to the non-secretor phenotype. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Texto
    Secretor Genotype (FUT2 gene) Is Strongly Associated with the Composition of Bifidobacteria in the Human Intestine
  16. 3216
    “…RESULTS: A novel homozygous nonsense mutation, R897X, was identified in WDR72 in a family originating from Pakistan. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Hypomaturation Amelogenesis Imperfecta due to WDR72 Mutations: A Novel Mutation and Ultrastructural Analyses of Deciduous Teeth
  17. 3217
    “…METHODS: In this study, nonsense-mediated mRNA decay (NMD) inhibition was used for the discovery of truncating mutations. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    NMD and microRNA expression profiling of the HPCX1 locus reveal MAGEC1 as a candidate prostate cancer predisposition gene
  18. 3218
    “…In contrast, we observed significant changes in the expression of several genes encoding iron sulfur flavoproteins, a major facilitator super-family transporter, regulator of nonsense transcripts, NADPH-dependent oxido-reductase, short chain dehydrogenase, acetyltransferases, and various other genes involved in diverse cellular functions. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Global analysis of gene expression in response to L-Cysteine deprivation in the anaerobic protozoan parasite Entamoeba histolytica
  19. 3219
    “…EA type 2 (EA2), the most common and the best characterized subtype, is caused by mostly nonsense, splice site, small indel, and sometimes missense mutations in CACNA1A. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2
  20. 3220
    “…RESULTS: Eight of 9 patients revealed alterations of the CHD7 gene including 3 frameshift, 2 nonsense, 2 splice site, and 1 missense mutations. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    CHD7 Mutational Analysis and Clinical Considerations for Auditory Rehabilitation in Deaf Patients with CHARGE Syndrome
Herramientas de búsqueda: RSS