Defects in RNA splicing and the consequence of shortened translational reading frames.
about
The apolipoprotein B mRNA editing complex performs a multifunctional cycle and suppresses nonsense-mediated decayMutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostosesA point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British familiesA spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticumThe molecular basis of X-linked spondyloepiphyseal dysplasia tarda.Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.Association of MSX1 and TGFB3 with nonsyndromic clefting in humansStructure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4)Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice sitePre-mRNA splicing alters mRNP composition: evidence for stable association of proteins at exon-exon junctionsStructure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in humanA homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesiclesAnalysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two familiesA spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)The acute myeloid leukemia-associated protein, DEK, forms a splicing-dependent interaction with exon-product complexesA missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutationPosttranscriptional control of gene expression in yeast.Evidence that phosphorylation of human Upfl protein varies with intracellular location and is mediated by a wortmannin-sensitive and rapamycin-sensitive PI 3-kinase-related kinase signaling pathwayPoint mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemiaNeurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.Activity and expression of ADP-glucose pyrophosphorylase during rhizome formation in lotus (Nelumbo nucifera Gaertn.).At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation.Selenium deficiency reduces the abundance of mRNA for Se-dependent glutathione peroxidase 1 by a UGA-dependent mechanism likely to be nonsense codon-mediated decay of cytoplasmic mRNA.Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosisEvidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cellsA premature termination codon interferes with the nuclear function of an exon splicing enhancer in an open reading frame-dependent mannerThe molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.Franklin H. Epstein Lecture. Both ends of the leash--the human links to good dogs with bad genes.Intron function in the nonsense-mediated decay of beta-globin mRNA: indications that pre-mRNA splicing in the nucleus can influence mRNA translation in the cytoplasm.A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.Genotype-phenotype relationships in ataxia-telangiectasia and variants.Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disordersRedefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutationChromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.RNA-protein interactions that regulate pre-mRNA splicing.Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site.Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin.
P2860
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P2860
Defects in RNA splicing and the consequence of shortened translational reading frames.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Defects in RNA splicing and the consequence of shortened translational reading frames.
@en
Defects in RNA splicing and the consequence of shortened translational reading frames.
@nl
type
label
Defects in RNA splicing and the consequence of shortened translational reading frames.
@en
Defects in RNA splicing and the consequence of shortened translational reading frames.
@nl
prefLabel
Defects in RNA splicing and the consequence of shortened translational reading frames.
@en
Defects in RNA splicing and the consequence of shortened translational reading frames.
@nl
P2860
P1476
Defects in RNA splicing and the consequence of shortened translational reading frames.
@en
P2093
L E Maquat
P2860
P304
P407
P577
1996-08-01T00:00:00Z