Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
about
Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™Sequence variations in DNA repair gene XPC is associated with lung cancer risk in a Chinese population: a case-control studyIn 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.Clinical utility gene card for: Xeroderma pigmentosum.In vitro functional effects of XPC gene rare variants from bladder cancer patients.Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.Xeroderma pigmentosum group C in an isolated region of Guatemala.New functions of XPC in the protection of human skin cells from oxidative damageCancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.Preclinical corrective gene transfer in xeroderma pigmentosum human skin stem cells.Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTGFounder mutations in xeroderma pigmentosum.Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.Xeroderma pigmentosum-variant patients from America, Europe, and Asia.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.Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.Genomic instability in breast and ovarian cancers: translation into clinical predictive biomarkers.Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.Xeroderma pigmentosum: diagnostic procedures, interdisciplinary patient care, and novel therapeutic approaches.A unique chromosomal in-frame deletion identified among seven XP-C patients.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.Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine.
P2860
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P1343
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P2860
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Reduced XPC DNA repair gene mR ...... eroderma pigmentosum patients.
@en
type
label
Reduced XPC DNA repair gene mR ...... eroderma pigmentosum patients.
@en
prefLabel
Reduced XPC DNA repair gene mR ...... eroderma pigmentosum patients.
@en
P2093
P2860
P4510
P356
P1433
P1476
Reduced XPC DNA repair gene mR ...... eroderma pigmentosum patients.
@en
P2093
Ahmet Metin
Alain Sarasin
Arash Khadavi
Carl C Baker
David B Busch
Deborah Schmidt
Engin Gozukara
Hanoch Slor
Hiroki Inui
John J DiGiovanna
P2860
P356
10.1093/CARCIN/BGI204
P407
P577
2005-08-04T00:00:00Z