Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship - Wikidata - awgldk - TriplyDB

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

http://www.wikidata.org/entity/Q24644678

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Nucleotide excision repair is associated with the replisome and its efficiency depends on a direct interaction between XPA and PCNA Replication factor C recruits DNA polymerase delta to sites of nucleotide excision repair but is not required for PCNA recruitment Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patients Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations Cockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylase Involvement of nucleotide excision and mismatch repair mechanisms in double strand break repair DNA repair and aging: the impact of the p53 family Oxidative stress, bone marrow failure, and genome instability in hematopoietic stem cells Oxidative stress, DNA damage, and the telomeric complex as therapeutic targets in acute neurodegeneration Basal cell carcinoma - molecular biology and potential new therapies Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency Potential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria-related disorders Systemic DNA damage responses in aging and diseases Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing The cerebro-morphological fingerprint of a progeroid syndrome: white matter changes correlate with neurological symptoms in xeroderma pigmentosum GammaH2AX and cancer Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration Hereditary genodermatoses with cancer predisposition MicroRNA-27a regulates basal transcription by targeting the p44 subunit of general transcription factor IIH.A community-based study of nucleotide excision repair polymorphisms in relation to the risk of non-melanoma skin cancer.Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.Sequential recruitment of the repair factors during NER: the role of XPG in initiating the resynthesis step.Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair.Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients The 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair.Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy Newly identified CHO ERCC3/XPB mutations and phenotype characterization.A functional analysis of G23A polymorphism and the alternative splicing in the expression of the XPA gene.Mechanisms controlling the smooth muscle cell death in progeria via down-regulation of poly(ADP-ribose) polymerase 1.Hydrogen peroxide induced genomic instability in nucleotide excision repair-deficient lymphoblastoid cells Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature Targeting and processing of site-specific DNA interstrand crosslinks.Premature aging and cancer in nucleotide excision repair-disorders.Prenatal diagnosis of xeroderma pigmentosum group A in Japan.Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology

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Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

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2007 nî lūn-bûn

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2007年の論文

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P2860

Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy.

Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer.

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.

Cockayne syndrome and xeroderma pigmentosum.

Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases.

Cockayne syndrome: review of 140 cases.

The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm.

Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases.

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