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About 2,112 results

ALLMedicine™ Xeroderma Pigmentosum Center

Research & Reviews  1,049 results

Transcription blockage by DNA damage in nucleotide excision repair-related neurological...
https://doi.org/10.1016/j.semcdb.2020.10.009
Seminars in Cell & Developmental Biology; Kajitani GS, Nascimento LLS et. al.

Nov 24th, 2020 - Human genetic syndromes deficient in nucleotide excision repair (NER), such as xeroderma pigmentosum and Cockayne syndrome, may present neurological abnormalities and premature aging symptoms. Unrepaired endogenously generated DNA damage that hamp...

XPC deficiency increases risk of hematologic malignancies through mutator phenotype and...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672101
Nature Communications; Yurchenko AA, Padioleau I et. al.

Nov 18th, 2020 - Recent studies demonstrated a dramatically increased risk of leukemia in patients with a rare genetic disorder, Xeroderma Pigmentosum group C (XP-C), characterized by constitutive deficiency of global genome nucleotide excision repair (GG-NER). Th...

Downregulation of Xeroderma Pigmentosum Complementation Group C Expression by 17-Allyla...
https://doi.org/10.1159/000509052
Pharmacology Chen JC, Ko JC et. al.

Nov 17th, 2020 - Xeroderma pigmentosum complementation group C (XPC) protein is an important DNA damage recognition factor involved in nucleotide excision repair and regulation of non-small-cell lung cancer (NSCLC) cell proliferation and viability. 17-Allylamino-1...

Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging.
https://doi.org/10.1007/s40618-020-01451-x
Journal of Endocrinological Investigation; Kouatcheu SD, Marko J et. al.

Nov 6th, 2020 - Xeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging. Reports from North Africa have described thyroid nodules in XP patients, but thyroid nodule prev...

Molecular analysis directs the prognosis, management and treatment of patients with xer...
https://doi.org/10.1016/j.dnarep.2020.102907
DNA Repair; Lehmann AR, Fassihi H

Oct 22nd, 2020 - Xeroderma pigmentosum (XP) is a well-studied disorder of (in most cases) nucleotide excision repair. The establishment in 2010 of a multidisciplinary XP clinic in the UK has enabled us to make a detailed analysis of genotype-phenotype relationship...

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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  1,053 results

Transcription blockage by DNA damage in nucleotide excision repair-related neurological...
https://doi.org/10.1016/j.semcdb.2020.10.009
Seminars in Cell & Developmental Biology; Kajitani GS, Nascimento LLS et. al.

Nov 24th, 2020 - Human genetic syndromes deficient in nucleotide excision repair (NER), such as xeroderma pigmentosum and Cockayne syndrome, may present neurological abnormalities and premature aging symptoms. Unrepaired endogenously generated DNA damage that hamp...

XPC deficiency increases risk of hematologic malignancies through mutator phenotype and...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672101
Nature Communications; Yurchenko AA, Padioleau I et. al.

Nov 18th, 2020 - Recent studies demonstrated a dramatically increased risk of leukemia in patients with a rare genetic disorder, Xeroderma Pigmentosum group C (XP-C), characterized by constitutive deficiency of global genome nucleotide excision repair (GG-NER). Th...

Downregulation of Xeroderma Pigmentosum Complementation Group C Expression by 17-Allyla...
https://doi.org/10.1159/000509052
Pharmacology Chen JC, Ko JC et. al.

Nov 17th, 2020 - Xeroderma pigmentosum complementation group C (XPC) protein is an important DNA damage recognition factor involved in nucleotide excision repair and regulation of non-small-cell lung cancer (NSCLC) cell proliferation and viability. 17-Allylamino-1...

Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging.
https://doi.org/10.1007/s40618-020-01451-x
Journal of Endocrinological Investigation; Kouatcheu SD, Marko J et. al.

Nov 6th, 2020 - Xeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging. Reports from North Africa have described thyroid nodules in XP patients, but thyroid nodule prev...

Molecular analysis directs the prognosis, management and treatment of patients with xer...
https://doi.org/10.1016/j.dnarep.2020.102907
DNA Repair; Lehmann AR, Fassihi H

Oct 22nd, 2020 - Xeroderma pigmentosum (XP) is a well-studied disorder of (in most cases) nucleotide excision repair. The establishment in 2010 of a multidisciplinary XP clinic in the UK has enabled us to make a detailed analysis of genotype-phenotype relationship...

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News  9 results

Fast Five Quiz: Malignant Melanoma
https://reference.medscape.com/viewarticle/936083_2

Aug 20th, 2020 - Primary risk factors and clinical warning signs for melanoma include: Changing mole (most important clinical warning sign) Presence of xeroderma pigmentosum or familial atypical mole melanoma syndrome Clinical atypical/dysplastic nevi in familial ...

NHS England Boss Knighted in New Year Honours
https://www.medscape.com/viewarticle/923186

Dec 27th, 2019 - Simon Stevens, head of NHS England becomes a Sir, leading this year's healthcare field in the 2020 New Year Honours List. The recipients in healthcare are alongside stars of sport, entertainment, public service, politics, charity work, and "the ou...

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.

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