(Q37180228)

English

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).

scientific article published on 08 May 2013

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1 March 2020

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) (English)

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1 March 2020

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xeroderma pigmentosum

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Stephen M. Hewitt

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1 March 2020

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1 March 2020

Sikandar G Khan

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1 March 2020

Kenneth H Kraemer

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1 March 2020

David E. Kleiner

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David E Kleiner

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1 March 2020

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Martha M Quezado

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1 March 2020

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Jin-Ping Lai

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1 March 2020

Yen-Chun Liu

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1 March 2020

Meghna Alimchandani

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1 March 2020

Qingyan Liu

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1 March 2020

Kant Matsuda

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1 March 2020

Chyi-Chia R Lee

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1 March 2020

Maria Tsokos

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1 March 2020

Elisabeth J Rushing

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1 March 2020

Deborah Tamura

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1 March 2020

David L Levens

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1 March 2020

John J Digiovanna

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1 March 2020

Howard A Fine

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1 March 2020

Nicholas Patronas

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1 March 2020

J Carl Oberholtzer

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1 March 2020

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8 May 2013

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1 March 2020

Acta Neuropathologica Communications

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1 March 2020

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1 March 2020

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1 March 2020

https://scigraph.springernature.com/pub.10.1186/2051-5960-1-4

0 references

Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Neuroimaging features of xeroderma pigmentosum group A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Shining a light on xeroderma pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

DNA Damage, Aging, and Cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

IDH1 and IDH2 mutations in gliomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Roles of oxidative stress in xeroderma pigmentosum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Oxidative stress in developmental brain disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Neurological symptoms and natural course of xeroderma pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

The case for 8,5'-cyclopurine-2'-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Brainstem and basal ganglia lesions in xeroderma pigmentosum group A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Ultraviolet light selection assay to optimize oligonucleotide correction of mutations in endogenous xeroderma pigmentosum genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Oxidative stress and disturbed glutamate transport in hereditary nucleotide repair disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Cockayne syndrome and xeroderma pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Neurodegeneration in hereditary nucleotide repair disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Cerebellar neurodegeneration in human hereditary DNA repair disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Characterization of molecular defects in xeroderma pigmentosum group C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Quantitative growth and development of human brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Peripheral neuropathy in xeroderma pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

6 September 2017

Xeroderma pigmentosum--report of two autopsy cases (author's transl)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

14 September 2017

Brain vascular changes in Cockayne syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Adult-onset xeroderma pigmentosum neurological disease--observations in an autopsy case.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Malignant melanoma in xeroderma pigmentosum: search for a precursor lesion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Xeroderma pigmentosum. Clinical and laboratory investigation of its basic defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Neuro-otological abnormalities in xeroderma pigmentosum with particular reference to deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Xeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Xeroderma pigmentosum. Defective DNA repair causes skin cancer and neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Five complementation groups in xeroderma pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

DeSanctis-Cacchione syndrome. A case report with autopsy findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Fetal case of xeroderma pigmentosum--first report of an autopsy case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

DNA Repair Processes Protect Human Beings from Premature Solar Skin Damage: Evidence from Studies on Xeroderma Pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

26 June 2018

Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

3 September 2018

Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

3 September 2018

Xeroderma pigmentosum: spinal cord astrocytoma with 9-year survival after radiation and isotretinoin therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

3 September 2018

Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

3 September 2018

Ocular involvement in xeroderma pigmentosum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3776212

3 September 2018

Patients with delusions in a community psychiatric service. A follow-up study.

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-1-4

21 January 2018

Clearing of melanoma in situ with intralesional interferon alfa in a patient with xeroderma pigmentosum

1 reference

https://pubmed.ncbi.nlm.nih.gov/24252196

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Typical xeroderma pigmentosum complementation group A fibroblasts have detectable ultraviolet light-induced unscheduled DNA synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/24252196

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Xeroderma pigmentosum with disorders of the central nervous system; a histopathological study.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/24252196

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The peripheral neuropathy in De Sanctis-Cacchione syndrome. Histological, ultrastructural, and morphometric studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/24252196

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/2051-5960-1-4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24252196%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Dimensions Publication ID

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1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24252196%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24252196%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

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