Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. - Wikidata - awgldk - TriplyDB

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

http://www.wikidata.org/entity/Q35605167

about

Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™Xeroderma pigmentosum The role of altered nucleotide excision repair and UVB-induced DNA damage in melanomagenesis Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patients Nucleotide Excision Repair and Vitamin D--Relevance for Skin Cancer Therapy Genetic causes of cancer predisposition in children and adolescents Photosensitive human syndromes Pathways for repairing and tolerating the spectrum of oxidative DNA lesions Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome.A novel role for transcription-coupled nucleotide excision repair for the in vivo repair of 3,N4-ethenocytosine.De Sanctis-Cacchione syndrome: A case report and literature review.Clinical utility gene card for: Xeroderma pigmentosum.A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.Fluorescence detection of cellular nucleotide excision repair of damaged DNA.Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature Melanoma genetics.Prenatal diagnosis of xeroderma pigmentosum group A in Japan.Association between single nucleotide polymorphisms in ERCC4 and risk of squamous cell carcinoma of the head and neck Spotlight on 'xeroderma pigmentosum'.Ancient origin of a Japanese xeroderma pigmentosum founder mutation Oxidative DNA damage and nucleotide excision repair.XPA: A key scaffold for human nucleotide excision repair.DNA repair mechanisms in dividing and non-dividing cells.Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.Forty years of research on xeroderma pigmentosum at the US National Institutes of Health.Redefining the DNA-binding domain of human XPA.Xeroderma pigmentosa: three new cases with an in depth review of the genetic and clinical characteristics of the disease.Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population.Ocular manifestations of trichothiodystrophy High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.Shining a light on xeroderma pigmentosum.Detection of UV-induced cyclobutane pyrimidine dimers by near-infrared spectroscopy and aquaphotomics.Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.Genetic Modulation of Neurocognitive Function in Glioma Patients

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Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

http://www.wikidata.org/entity/Q35605167

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Cancer and neurologic degenera ...... erises the role of DNA repair.

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Cancer and neurologic degenera ...... erises the role of DNA repair.

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Cancer and neurologic degenera ...... erises the role of DNA repair.

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Cancer and neurologic degenera ...... erises the role of DNA repair.

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Cancer and neurologic degenera ...... erises the role of DNA repair.

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JMG.2010.083022

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Journal of Medical Genetics

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Cancer and neurologic degenera ...... terises the role of DNA repair

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Alisa M Goldstein

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Arati Raziuddin

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Deborah Tamura

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Hiroki Inui

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Jennifer Boyle

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John J DiGiovanna

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Kristen M Pike

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Kyoko Imoto

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Kyu-Seon Oh

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Margaret A Tucker

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P2860

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

Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia

Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

Nonmelanoma skin cancer: is the incidence really increasing among patients younger than 40? A reexamination using 25 years of U.S. outpatient data.

Defective global genome repair in XPC mice is associated with skin cancer susceptibility but not with sensitivity to UVB induced erythema and edema.

Xeroderma pigmentosum genes: functions inside and outside DNA repair.

Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

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168-176

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10.1136/JMG.2010.083022

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3

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48

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Kenneth H Kraemer

Sikandar G Khan

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2010-11-19T00:00:00Z

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49628956

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