Characterization of a splicing mutation in group A xeroderma pigmentosum
about
Strong functional interactions of TFIIH with XPC and XPG in human DNA nucleotide excision repair, without a preassembled repairosomeA role for the human single-stranded DNA binding protein HSSB/RPA in an early stage of nucleotide excision repairDifferential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissuesA common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG functionBiased exon/intron distribution of cryptic and de novo 3' splice sitesDetection of chromatin-bound PCNA in mammalian cells and its use to study DNA excision repairAnalysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among CaucasiansUnexpected occurrence of xeroderma pigmentosum in an uncle and nephew.The 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair.Prenatal diagnosis of xeroderma pigmentosum group A in Japan.Ancient origin of a Japanese xeroderma pigmentosum founder mutationIdentification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagenRepair and replication of plasmids with site-specific 8-oxodG and 8-AAFdG residues in normal and repair-deficient human cells.Complementation of DNA repair in xeroderma pigmentosum group A cell extracts by a protein with affinity for damaged DNA.Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders.Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma.Splicing in Caenorhabditis elegans does not require an AG at the 3' splice acceptor site.Truncated XPA protein detected in atypical group A xeroderma pigmentosum.The DNA damage-recognition problem in human and other eukaryotic cells: the XPA damage binding protein.Transcriptional consequences of XPA disruption in human cell lines.Cisplatin resistance in cell models: evaluation of metallomic and biological predictive biomarkers to address early therapy failure.Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.Molecular bases for hereditary cancer-prone diseases.Management of a young patient with xeroderma pigmentosum.High resolution pinhole SPECT for tumor imaging.
P2860
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P2860
Characterization of a splicing mutation in group A xeroderma pigmentosum
description
1990 nî lūn-bûn
@nan
1990 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Characterization of a splicing mutation in group A xeroderma pigmentosum
@ast
Characterization of a splicing mutation in group A xeroderma pigmentosum
@en
Characterization of a splicing mutation in group A xeroderma pigmentosum
@nl
type
label
Characterization of a splicing mutation in group A xeroderma pigmentosum
@ast
Characterization of a splicing mutation in group A xeroderma pigmentosum
@en
Characterization of a splicing mutation in group A xeroderma pigmentosum
@nl
prefLabel
Characterization of a splicing mutation in group A xeroderma pigmentosum
@ast
Characterization of a splicing mutation in group A xeroderma pigmentosum
@en
Characterization of a splicing mutation in group A xeroderma pigmentosum
@nl
P2093
P2860
P3181
P356
P1476
Characterization of a splicing mutation in group A xeroderma pigmentosum
@en
P2093
I Miyamoto
I Satokata
P2860
P304
P3181
P356
10.1073/PNAS.87.24.9908
P407
P577
1990-12-01T00:00:00Z