A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.
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Nonsense-mediated mRNA decay: inter-individual variability and human diseaseAlpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defectsCohesin acetyltransferase Esco2 is a cell viability factor and is required for cohesion in pericentric heterochromatinIdentification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans.Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues.Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.Multifaceted Regulation of Gene Expression by the Apoptosis- and Splicing-Associated Protein Complex and Its Components.High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomiaWhen a ribosome encounters a premature termination codon.The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.Nonsense-mediated decay in genetic disease: friend or foe?Biological and clinical significance of epigenetic silencing of MARVELD1 gene in lung cancer.The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.Nonsense-mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question.The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathwayInhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity.Regulation of nonsense-mediated mRNA decay.Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.RB1 mutations and second primary malignancies after hereditary retinoblastoma.The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells.Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.A cytogenetic study of hospital workers occupationally exposed to radionuclides in Serbia: premature centromere division as novel biomarker of exposure?SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome.Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
P2860
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P2860
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
A homozygous frameshift mutati ...... l variation in Nmd efficiency.
@ast
A homozygous frameshift mutati ...... l variation in Nmd efficiency.
@en
A homozygous frameshift mutati ...... l variation in Nmd efficiency.
@nl
type
label
A homozygous frameshift mutati ...... l variation in Nmd efficiency.
@ast
A homozygous frameshift mutati ...... l variation in Nmd efficiency.
@en
A homozygous frameshift mutati ...... l variation in Nmd efficiency.
@nl
prefLabel
A homozygous frameshift mutati ...... l variation in Nmd efficiency.
@ast
A homozygous frameshift mutati ...... l variation in Nmd efficiency.
@en
A homozygous frameshift mutati ...... l variation in Nmd efficiency.
@nl
P2093
P50
P356
P1476
A homozygous frameshift mutati ...... al variation in Nmd efficiency
@en
P2093
Ginevra Guanti
Marilena C Di Giacomo
Nenad Bukvic
Rosanna Bagnulo
P356
10.1002/JCP.20708
P577
2006-10-01T00:00:00Z