Characterization of molecular defects in xeroderma pigmentosum group C
about
Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexesBiochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein.In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutationXPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.Gene therapy and dermatology: more than just skin deep.DNA copy number losses in human neoplasms.Functional assays to determine the significance of two common XPC 3'UTR variants found in bladder cancer patients.c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts.Effect of purified murine NGF on isolated photoreceptors of a rodent developing retinitis pigmentosa.The Nucleotide Excision Repair Pathway Limits L1 RetrotranspositionWhole-exome sequencing of fibroblast and its iPS cell lines derived from a patient diagnosed with xeroderma pigmentosum.Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptomsSkin cancers, blindness, and anterior tongue mass in African brothers.Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.Identification and characterization of XPC-binding domain of hHR23B.A unique chromosomal in-frame deletion identified among seven XP-C patients.HHR23B, a human Rad23 homolog, stimulates XPC protein in nucleotide excision repair in vitro.Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders.Overproduction, purification, and characterization of the XPC subunit of the human DNA repair excision nuclease.Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis.Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
P2860
Q24311788-3DA7CB94-1467-4ED3-A7C3-6B734D8F2CD0Q24547630-FEB4C8EE-2520-4A1E-B924-AC12A26C14D6Q33265872-B3DC3B2C-FA4B-43EC-B500-25D2ED7C8331Q33293339-C32D8920-F230-47DE-8DA8-C857E61B584AQ33624742-C99420A7-F832-4A20-8AA1-D0DE2A676BF5Q33669657-F87C84A4-902E-4D62-ADF1-D1A463D09763Q33733232-5265382E-9D15-4F75-9EB4-99306C41C98BQ33937396-EFFF190E-5A05-46E3-B8C5-D7509A31EA2FQ34473428-A3FB29E1-00C2-4052-9D30-210B3982FAA3Q35050078-4B354A7A-2023-404B-8F7E-B5C51578D6C0Q35512477-A63CFA76-35A6-421C-96AD-AF5D44DD0C63Q36239040-60D29DD5-9EE6-4400-BA86-6B3FEDC256FCQ36332809-A29509F6-FE34-48FC-A6EB-A344DF08DC62Q36994793-5D9D7AB7-BD76-4C00-A632-DD6F8238F544Q37180228-C7E5297C-227D-40A3-A3EF-ABDC90ECF97FQ37198847-C71CE334-E7FE-4FA6-83B8-981EDFB37B2FQ37278613-F80531F1-D9F3-439A-B6B6-57697980FEB6Q37353126-31D43B74-F24F-4C0B-9D90-711EE5C0AF98Q37642307-25EDC09D-1BD8-4ACC-9AA2-308D453FB93DQ38322541-4863984D-7CC7-4190-9C55-A53C570D374CQ38341326-EE68AD1A-7116-4B82-BBFE-A47F336245D5Q39624671-0026426A-92F5-4C93-8D66-81EF80EDDC93Q40019757-3FAF82AD-E384-4B5A-8995-E25661827E92Q41161393-6F546208-6E31-45ED-9E81-EC934ABEC414Q41175756-C61D7546-A5EB-4F5C-A8B0-F89480C365D9Q45874541-1A0114FB-C57C-4101-AA68-12297AD30058Q46232393-32A2D6E6-E43B-466E-974B-2E919B43072FQ57263803-0784933E-183F-44F3-B794-B0854ADD2201
P2860
Characterization of molecular defects in xeroderma pigmentosum group C
description
1993 nî lūn-bûn
@nan
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Characterization of molecular defects in xeroderma pigmentosum group C
@ast
Characterization of molecular defects in xeroderma pigmentosum group C
@en
Characterization of molecular defects in xeroderma pigmentosum group C
@nl
type
label
Characterization of molecular defects in xeroderma pigmentosum group C
@ast
Characterization of molecular defects in xeroderma pigmentosum group C
@en
Characterization of molecular defects in xeroderma pigmentosum group C
@nl
prefLabel
Characterization of molecular defects in xeroderma pigmentosum group C
@ast
Characterization of molecular defects in xeroderma pigmentosum group C
@en
Characterization of molecular defects in xeroderma pigmentosum group C
@nl
P2093
P2860
P356
P1433
P1476
Characterization of molecular defects in xeroderma pigmentosum group C
@en
P2093
P2860
P2888
P356
10.1038/NG1293-413
P407
P577
1993-12-01T00:00:00Z