Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.
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The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyriaMutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosaSuccinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patientInactivation of a novel neuropeptide Y/peptide YY receptor gene in primate speciesIdentification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1Molecular genetics of neurofibromatosis type 1 (NF1)Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexesPremature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosaFrameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan originParoxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A geneA mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindredsMutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemiaPRB3 null mutations result in absence of the proline-rich glycoprotein Gl and abolish Fusobacterium nucleatum interactions with saliva in vitroPRBI gene variants coding for length and null polymorphisms among human salivary Ps, PmF, PmS, and Pe proline-rich proteins (PRPs)Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenesMolecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complexThe molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutationCompound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentitionMolecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VIIMolecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codonNonsense-mediated mRNA decay in humans at a glanceMutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosaE210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosaA mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humansDetection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)Organizing principles of mammalian nonsense-mediated mRNA decayOccipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locusAnalysis of solvent control and 1-nitrosopyrene-induced Chinese hamster ovary cell mutants by Southern and northern blots and the polymerase chain reactionDNA strand-specific mutations induced by (+/-)-3 alpha,4 beta-dihydroxy- 1 alpha,2 alpha-epoxy-1,2,3,4-tetrahydrobenzo[c]phenanthrene in the dihydrofolate reductase geneSplicing mutations in the CHO DHFR gene preferentially induced by (+/-)-3 alpha,4 beta-dihydroxy-1 alpha,2 alpha-epoxy-1,2,3,4- tetrahydrobenzo[c]phenanthreneDirect selection for mutations affecting specific splice sites in a hamster dihydrofolate reductase minigeneA gene-targeted mouse model for familial hypobetalipoproteinemia. Low levels of apolipoprotein B mRNA in association with a nonsense mutation in exon 26 of the apolipoprotein B geneTranscriptional and posttranscriptional regulation of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase during liver regenerationRapid deadenylation triggered by a nonsense codon precedes decay of the RNA body in a mammalian cytoplasmic nonsense-mediated decay pathwaymRNA stability in mammalian cellsFrameshift mutations in the v-src gene of avian sarcoma virus act in cis to specifically reduce v-src mRNA levels.Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cellsThe pc-1 phenotype of Chlamydomonas reinhardtii results from a deletion mutation in the nuclear gene for NADPH:protochlorophyllide oxidoreductase.Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I.
P2860
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P2860
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.
@ast
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.
@en
type
label
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.
@ast
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.
@en
prefLabel
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.
@ast
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.
@en
P2093
P2860
P356
P1476
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.
@en
P2093
C J Ciudad
L A Chasin
P J Mitchell
P2860
P304
P356
10.1128/MCB.9.7.2868
P407
P577
1989-07-01T00:00:00Z