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About 2,076 results

ALLMedicine™ Xeroderma Pigmentosum Center

Research & Reviews  1,035 results

Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma...
https://doi.org/10.1002/mgg3.1491
Molecular Genetics & Genomic Medicine References; Soares IFZ, Christofolini DM et. al.

Sep 16th, 2020 - Xeroderma pigmentosum (XP) is a rare, genetically heterogeneous, autosomal recessive disorder caused by defects in the genes involved in repairing DNA damaged by ultraviolet radiation. These defects lead to a propensity to develop skin cancer at e...

Sunlight, Vitamin D, and Xeroderma Pigmentosum.
https://doi.org/10.1007/978-3-030-46227-7_16
Advances in Experimental Medicine and Biology; Martens MC, Emmert S et. al.

Sep 12th, 2020 - Sunlight, in particular UV-B radiation, is an important factor for endogenous vitamin D production as 80-90% of the required vitamin D needs to be photosynthesized in the skin. The active form of vitamin D, vitamin D3 or calcitriol, binds to the l...

Ocular surface biopsies of patients with xeroderma pigmentosum in the United Kingdom: a...
https://doi.org/10.1136/bjophthalmol-2020-316125
The British Journal of Ophthalmology; Vekinis J, Morley AMS

Sep 6th, 2020 - To describe the results of all ocular surface biopsies performed on patients with xeroderma pigmentosum (XP) under the care of the UK Nationally Commissioned XP Service as well as the treatment of any subsequent ocular surface conditions diagnosed...

Anterior segment optical coherence tomography features of pseudoepitheliomatous hyperpl...
https://doi.org/10.1007/s10792-020-01558-3
International Ophthalmology; Kaliki S, Maniar A et. al.

Aug 24th, 2020 - To describe anterior segment optical coherence tomography (AS-OCT) features of pseudoepitheliomatous hyperplasia (PEH) of the ocular surface. This is a retrospective study of 9 lesions of 8 patients with histopathologically proven PEH RESULTS: Mea...

Expanding molecular roles of UV-DDB: Shining light on genome stability and cancer.
https://doi.org/10.1016/j.dnarep.2020.102860
DNA Repair; Beecher M, Kumar N et. al.

Aug 2nd, 2020 - UV-damaged DNA binding protein (UV-DDB) is a heterodimeric complex, composed of DDB1 and DDB2, and is involved in global genome nucleotide excision repair. Mutations in DDB2 are associated with xeroderma pigmentosum complementation group E. UV-DDB...

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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  1,035 results

Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma...
https://doi.org/10.1002/mgg3.1491
Molecular Genetics & Genomic Medicine References; Soares IFZ, Christofolini DM et. al.

Sep 16th, 2020 - Xeroderma pigmentosum (XP) is a rare, genetically heterogeneous, autosomal recessive disorder caused by defects in the genes involved in repairing DNA damaged by ultraviolet radiation. These defects lead to a propensity to develop skin cancer at e...

Sunlight, Vitamin D, and Xeroderma Pigmentosum.
https://doi.org/10.1007/978-3-030-46227-7_16
Advances in Experimental Medicine and Biology; Martens MC, Emmert S et. al.

Sep 12th, 2020 - Sunlight, in particular UV-B radiation, is an important factor for endogenous vitamin D production as 80-90% of the required vitamin D needs to be photosynthesized in the skin. The active form of vitamin D, vitamin D3 or calcitriol, binds to the l...

Ocular surface biopsies of patients with xeroderma pigmentosum in the United Kingdom: a...
https://doi.org/10.1136/bjophthalmol-2020-316125
The British Journal of Ophthalmology; Vekinis J, Morley AMS

Sep 6th, 2020 - To describe the results of all ocular surface biopsies performed on patients with xeroderma pigmentosum (XP) under the care of the UK Nationally Commissioned XP Service as well as the treatment of any subsequent ocular surface conditions diagnosed...

Anterior segment optical coherence tomography features of pseudoepitheliomatous hyperpl...
https://doi.org/10.1007/s10792-020-01558-3
International Ophthalmology; Kaliki S, Maniar A et. al.

Aug 24th, 2020 - To describe anterior segment optical coherence tomography (AS-OCT) features of pseudoepitheliomatous hyperplasia (PEH) of the ocular surface. This is a retrospective study of 9 lesions of 8 patients with histopathologically proven PEH RESULTS: Mea...

Expanding molecular roles of UV-DDB: Shining light on genome stability and cancer.
https://doi.org/10.1016/j.dnarep.2020.102860
DNA Repair; Beecher M, Kumar N et. al.

Aug 2nd, 2020 - UV-damaged DNA binding protein (UV-DDB) is a heterodimeric complex, composed of DDB1 and DDB2, and is involved in global genome nucleotide excision repair. Mutations in DDB2 are associated with xeroderma pigmentosum complementation group E. UV-DDB...

see more →

News  5 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.

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.

Making a Difference in Dermatology
https://www.mdedge.com/dermatology/article/46532/making-difference-dermatology/page/0/1

Dec 1st, 2011 - Dr. Zaenglein served a number of children with albinism and xeroderma pigmentosum (XP) which are very common in the part of East Africa where she worked.

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