Xeroderma Pigmentosum.

scientific article published on 14 March 2016

Xeroderma Pigmentosum. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S12105-016-0707-8
P932PMC publication ID4838978
P698PubMed publication ID26975629

P2093author name stringJennifer O Black
P2860cites workMolecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patientsQ24530548
Xeroderma pigmentosumQ24594728
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase etaQ28115711
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophyQ28272049
Neurological symptoms and natural course of xeroderma pigmentosumQ33345341
Defective Repair Replication of DNA in Xeroderma PigmentosumQ34054000
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published casesQ34183159
Forty years of research on xeroderma pigmentosum at the US National Institutes of Health.Q35164298
Xeroderma pigmentosa: three new cases with an in depth review of the genetic and clinical characteristics of the diseaseQ35470522
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.Q35605167
Shining a light on xeroderma pigmentosumQ35757364
Evidence that xeroderma pigmentosum cells do not perform the first step in the repair of ultraviolet damage to their DNA.Q36444039
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageQ36986273
Cerebro-oculo-facio-skeletal syndrome.Q37778048
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.Q38177867
DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient diseaseQ38563227
Xeroderma pigmentosum. Clinical and laboratory investigation of its basic defectQ41939016
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repairQ42440575
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.Q53068627
Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to ultraviolet lightQ57971918
DNA Repair Dysfunction and Neurodegeneration: Lessons From Rare Pediatric DisordersQ64049273
Genetic Heterogeneity of Xeroderma Pigmentosum demonstrated by Somatic Cell HybridizationQ69000572
Defect in DNA Synthesis in Skin of Patients with Xeroderma Pigmentosum Demonstrated in vivoQ71509246
Absence of excision of ultraviolet-induced cyclobutane dimers in xeroderma pigmentosumQ71535172
Ultraviolet-stimulated thymidine incorporation in xeroderma pigmentosum lymphocytesQ71789722
P433issue2
P304page(s)139-144
P577publication date2016-03-14
P1433published inHead and Neck PathologyQ15816982
P1476titleXeroderma Pigmentosum.
P478volume10

Reverse relations

cites work (P2860)
Q58712798Biomarkers of Cellular Senescence and Skin Aging
Q55054189Cutaneous Papillomaviruses and Non-melanoma Skin Cancer: Causal Agents or Innocent Bystanders?
Q92890851DNA repair fidelity in stem cell maintenance, health, and disease
Q89511629Interplay between BRCA1 and GADD45A and Its Potential for Nucleotide Excision Repair in Breast Cancer Pathogenesis
Q92999447Neurogenic bladder associated with xeroderma pigmentosum type A: A case report and literature review
Q100737103Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients
Q93066251Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series
Q64042356Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms

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