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About 2,068 results

ALLMedicine Xeroderma Pigmentosum Center

Research & Reviews  1,021 results

Evidence for sub-functionalization of tandemly duplicated XPB nucleotide excision repai...
https://doi.org/10.1016/j.gene.2020.144818
Gene Paula Masuda H, Nakabashi M et. al.

Jun 2nd, 2020 - Plants are continuously exposed to agents that can generate DNA lesions. Nucleotide Excision Repair (NER) is one of the repair pathways employed by plants to protect their genome, including from sunlight. The Xeroderma Pigmentosum type B (XPB) pro...

Contribution of xeroderma pigmentosum complementation group D gene polymorphisms in bre...
https://doi.org/10.1097/MD.0000000000020299
Medicine Tian Y, Lin X et. al.

Jun 1st, 2020 - The role of xeroderma pigmentosum complementation group D (XPD) gene polymorphisms in breast and ovarian cancer development has long been controversial and existing data were inconsistent. Here, we conducted a comprehensive systemic review and met...

Effects of Xeroderma pigmentosum group C polymorphism on the likelihood of prostate can...
https://doi.org/10.1002/jcla.23403
Journal of Clinical Laboratory Analysis REFERENCES; Yan Y, Xu J et. al.

Jun 1st, 2020 - Numerous studies have assessed the association between xeroderma pigmentosum complementation group C (XPC) polymorphisms and susceptibility of prostate cancer (PCa); however, the findings remain inconsistent. We performed an updated analysis utili...

XPD inhibits cell growth and invasion and enhances chemosensitivity in esophageal squam...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255471
International Journal of Molecular Medicine; Jian J, Li S et. al.

May 7th, 2020 - Esophageal squamous cell carcinoma (ESCC) is a lethal disease due to its high aggressiveness. The aim of the present study was to investigate the role of xeroderma pigmentosum complementation group D (XPD) in the growth and invasion of ESCC and to...

Corneal endothelial assessment in xeroderma pigmentosum: a case-control study.
https://doi.org/10.1007/s10792-020-01398-1
International Ophthalmology; Aghaei H, Es'haghi A et. al.

May 4th, 2020 - To analyze and compare corneal endothelial mosaic in terms of endothelial cell population, morphology and irregularity in patients with xeroderma pigmentosum (XP) with clear corneas with normal age and sex matched subjects using specular microscop...

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Guidelines  1 results

Xeroderma pigmentosum clinical practice guidelines.
https://doi.org/10.1111/1346-8138.13907
The Journal of Dermatology; Moriwaki S, Kanda F et. al.

Aug 4th, 2017 - Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites. In Japan, more than half of patients (30% worldwide) with XP show complications of idiopathic pr...

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Clinicaltrials.gov  1,031 results

Evidence for sub-functionalization of tandemly duplicated XPB nucleotide excision repai...
https://doi.org/10.1016/j.gene.2020.144818
Gene Paula Masuda H, Nakabashi M et. al.

Jun 2nd, 2020 - Plants are continuously exposed to agents that can generate DNA lesions. Nucleotide Excision Repair (NER) is one of the repair pathways employed by plants to protect their genome, including from sunlight. The Xeroderma Pigmentosum type B (XPB) pro...

Contribution of xeroderma pigmentosum complementation group D gene polymorphisms in bre...
https://doi.org/10.1097/MD.0000000000020299
Medicine Tian Y, Lin X et. al.

Jun 1st, 2020 - The role of xeroderma pigmentosum complementation group D (XPD) gene polymorphisms in breast and ovarian cancer development has long been controversial and existing data were inconsistent. Here, we conducted a comprehensive systemic review and met...

Effects of Xeroderma pigmentosum group C polymorphism on the likelihood of prostate can...
https://doi.org/10.1002/jcla.23403
Journal of Clinical Laboratory Analysis REFERENCES; Yan Y, Xu J et. al.

Jun 1st, 2020 - Numerous studies have assessed the association between xeroderma pigmentosum complementation group C (XPC) polymorphisms and susceptibility of prostate cancer (PCa); however, the findings remain inconsistent. We performed an updated analysis utili...

XPD inhibits cell growth and invasion and enhances chemosensitivity in esophageal squam...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255471
International Journal of Molecular Medicine; Jian J, Li S et. al.

May 7th, 2020 - Esophageal squamous cell carcinoma (ESCC) is a lethal disease due to its high aggressiveness. The aim of the present study was to investigate the role of xeroderma pigmentosum complementation group D (XPD) in the growth and invasion of ESCC and to...

Corneal endothelial assessment in xeroderma pigmentosum: a case-control study.
https://doi.org/10.1007/s10792-020-01398-1
International Ophthalmology; Aghaei H, Es'haghi A et. al.

May 4th, 2020 - To analyze and compare corneal endothelial mosaic in terms of endothelial cell population, morphology and irregularity in patients with xeroderma pigmentosum (XP) with clear corneas with normal age and sex matched subjects using specular microscop...

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News  15 results

Expert spotlights telltale clinical signs of xeroderma pigmentosum
https://www.mdedge.com/pediatrics/article/207921/pediatrics/expert-spotlights-telltale-clinical-signs-xeroderma-pigmentosum?channel=39313
Doug Brunk

Sep 10th, 2019 - AUSTIN, TEX. – If a child presents with acute photosensitivity at a young age, onset of freckling before the age of 2 years, and severe sun damage of the lips and eyes, think xeroderma pigmentosum (XP), a rare autosomal recessive disorder.

Xeroderma Pigmentosum Prevalence Vastly Overestimated
https://www.medscape.com/viewarticle/906738

Dec 18th, 2018 - NEW YORK (Reuters Health) - Xeroderma pigmentosum (XP) is not nearly as prevalent as suggested by the frequency of known pathogenic mutations in large exome-sequence databases, according to researchers. "Wide use of genomic sequencing to diagnose ...

Small Kansas Town Turns Night Into Day for Boy With Rare Disease
https://www.mdedge.com/clinicianreviews/article/150902/rare-diseases/small-kansas-town-turns-night-day-boy-rare-disease

Nov 1st, 2017 - A new documentary video developed by NORD shows how a small community in Kansas came together to support an 11-year-old boy who has a rare disease that makes it necessary for him to avoid sunlight. Peyton Madden has xeroderma pigmentosum (XP), a r.

Why you should use sunscreens indoors
https://www.mdedge.com/pediatrics/article/144842/aesthetic-dermatology/why-you-should-use-sunscreens-indoors
Lily Talakoub, MD, Naissan Wesley, MD

Aug 17th, 2017 - It may be surprising that there are dermatologic risks of UV exposure from lamps and other indoor light sources that we use daily. Is long-term daily exposure to presumably low-irradiance lights of clinical significance to photodermatoses? Recent.

Hereditary Nonmelanoma Skin Cancer
https://www.mdedge.com/dermatology/article/57562/melanoma/hereditary-nonmelanoma-skin-cancer

Dec 1st, 2012 - Vasiliki Nikolaou, MD, Alexander J. Stratigos, MD, and Hensin Tsao, MD, PhD Cutaneous basal and squamous cell carcinomas are among the most frequent malignancies in the white population, with the annual incidence estimates ranging from 1 million t.

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