Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. (Q35605167)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21097776%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

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

1 reference

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16 January 2020

main subject

xeroderma pigmentosum

1 reference

4

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16 January 2020

Kenneth H Kraemer

17

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16 January 2020

author name string

Porcia T Bradford

1

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16 January 2020

Alisa M Goldstein

2

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16 January 2020

Deborah Tamura

3

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16 January 2020

Takahiro Ueda

5

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16 January 2020

Jennifer Boyle

6

1 reference

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16 January 2020

Kyu-Seon Oh

7

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16 January 2020

Kyoko Imoto

8

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16 January 2020

Hiroki Inui

9

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16 January 2020

Shin-Ichi Moriwaki

10

1 reference

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16 January 2020

Steffen Emmert

11

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16 January 2020

Kristen M Pike

12

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16 January 2020

Arati Raziuddin

13

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16 January 2020

Teri M Plona

14

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16 January 2020

John J DiGiovanna

15

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16 January 2020

Margaret A Tucker

16

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16 January 2020

language of work or name

English

0 references

publication date

19 November 2010

1 reference

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Journal of Medical Genetics

16 January 2020

published in

1 reference

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16 January 2020

volume

48

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16 January 2020

issue

3

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16 January 2020

page(s)

168-176

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

16 January 2020

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

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Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

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

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Impaired ultraviolet-B-induced cytokine induction in xeroderma pigmentosum fibroblasts.

27 July 2018

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Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

27 July 2018

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Controlling the efficiency of excision repair

27 July 2018

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Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair

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27 July 2018

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27 July 2018

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27 July 2018

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Trends in the population-based incidence of squamous cell carcinoma of the skin first diagnosed between 1984 and 1992.

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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Reduced DNA repair in cultured melanocytes and nevus cells from a patient with xeroderma pigmentosum.

27 July 2018

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27 July 2018

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

27 July 2018

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

27 July 2018

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

27 July 2018

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Incidence estimate of nonmelanoma skin cancer in the United States, 2006.

27 July 2018

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XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.

25 September 2018

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Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

25 September 2018

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Xeroderma pigmentosum: a retrospective case series in Zimbabwe

25 September 2018

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

25 September 2018

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Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

25 September 2018

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25 September 2018

1 reference

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Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach.

25 September 2018

1 reference

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Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.

25 September 2018

1 reference

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The influence of painful sunburns and lifetime sun exposure on the risk of actinic keratoses, seborrheic warts, melanocytic nevi, atypical nevi, and skin cancer

25 September 2018

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The Terpstra-Jonckheere test for ordered alternatives: randomized probability values.

25 September 2018

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Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum.

25 September 2018

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Xeroderma pigmentosum in black South Africans

25 September 2018

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

25 September 2018

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

25 September 2018

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25 September 2018

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

25 September 2018

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Xeroderma pigmentosum and mucocutaneous malignancies in three black siblings.

25 September 2018

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

25 September 2018

1 reference

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Defective Repair Replication of DNA in Xeroderma Pigmentosum

25 September 2018

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Analysis of relative survival and proportional mortality.

25 September 2018

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Melanocortin 1 Receptor (MC1R) Gene Variants are Associated with an Increased Risk for Cutaneous Melanoma Which is Largely Independent of Skin Type and Hair Color

25 September 2018

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The emerging epidemic of melanoma and squamous cell skin cancer

15 November 2018

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12 December 2020

Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree

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12 December 2020

Cancer of the tongue. Report of the management of 1,554 patients

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12 December 2020

Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations

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12 December 2020

Sunburned skin activates inflammasomes

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Xeroderma pigmentosum. A prototype disease of environmental-genetic interaction

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Identifiers

DOI

10.1136/JMG.2010.083022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21097776%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21097776%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference