Results 71 to 80 of about 22,799 (245)

Unscheduled DNA synthesis in xeroderma pigmentosum cells after microinjection of yeast photoreactivating enzyme. [PDF]

open access: yes, 1986
Photoreactivating enzyme (PRE) from yeast causes a light-dependent reduction of UV-induced unscheduled DNA synthesis (UDS) when injected into the cytoplasm of repair-proficieint human fibroblasts (Zwetsloot et al., 1985).
Bootsma, D. (Dirk)   +4 more
core   +1 more source

The Need to Improve the Medical Subject Headings (MeSH) and the Excerpta Medica Tree (EMTREE) Thesauri to Perform Systematic Review on Oral Potentially Malignant Disorders

open access: yesJournal of Oral Pathology &Medicine, Volume 54, Issue 4, Page 241-247, April 2025.
ABSTRACT Background Despite recent advancements in the understanding and classification of oral potentially malignant disorders (OPMD), their terminology remains inconsistent and heterogeneous throughout the scientific literature, thus affecting evidence‐based decision‐making relevant for clinical management of these disorders.
Vito Carlo Alberto Caponio   +5 more
wiley   +1 more source

Myrid of histopathological features of malignancy in Xeroderma pigmentosum

open access: yesJournal of Pathology of Nepal, 2013
Background: Xeroderma pigmentosum is a rare autosomal recessively inherited disorder affecting 1 in 2,50,000 population. It shows genetic heterogeneity with at least ten different complementation groups identified which have different clinical ...
S Karki, G Pandey, N Bhattarai
doaj   +1 more source

Why? What? How? Using an Intervention Mapping approach to develop a personalised intervention to improve adherence to photoprotection in patients with Xeroderma Pigmentosum

open access: yesHealth Psychology and Behavioral Medicine, 2020
Background: Intervention Mapping (IM) is a systematic approach for developing theory-based interventions across a variety of contexts and settings. This paper describes the development of a complex intervention designed to reduce the dose of ultraviolet ...
Jessica Walburn   +9 more
doaj   +1 more source

A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients.

open access: yesPLoS ONE, 2022
Nucleotide Excision Repair is one of the five DNA repair systems. More than 30 proteins are involved in this process, including the seven XP proteins. When mutated, the genes coding for these proteins are provoking the rare disease Xeroderma Pigmentosum,
Florent Taupelet   +4 more
doaj   +1 more source

Automated Image Processing for the Analysis of DNA Repair Dynamics [PDF]

open access: yesarXiv, 2011
The efficient repair of cellular DNA is essential for the maintenance and inheritance of genomic information. In order to cope with the high frequency of spontaneous and induced DNA damage, a multitude of repair mechanisms have evolved. These are enabled by a wide range of protein factors specifically recognizing different types of lesions and finally ...
arxiv  

Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome [PDF]

open access: yes, 2017
Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions.
Adamec   +23 more
core   +2 more sources

Genomic stress in diseases stemming from defects in the second brain

open access: yesNeurogastroenterology &Motility, EarlyView.
The enteric nervous system, a.k.a., second brain, is subject to a range of genotoxic exposures that include intrinsic oxidative stress and extrinsic agents associated with ingested foods, inflammation, and dysbiosis. Resulting DNA damage, if left unrepaired, can induce cell dysfunction or death, resulting in gut abnormalities and enteric neuropathy ...
Lobke Marie M. Mombeek   +2 more
wiley   +1 more source

Metastatic Squamous Cell Carcinoma Treated With Pembrolizumab in a Patient With Xeroderma Pigmentosum

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT A 5‐year‐old male with xeroderma pigmentosum from Honduras presented with a rapidly growing mass on the left post‐auricular neck, associated with left‐sided hearing loss. MRI revealed a large mass with invasion of the external auditory canal, temporal bone, and metastasis to lymph nodes. Biopsy confirmed moderately differentiated squamous cell
Ngan Do   +4 more
wiley   +1 more source

Xeroderma pigmentosum and rhabdoid tumor of the kidney: A very rare case report association

open access: yesRadiology Case Reports, 2022
The aim of this observation was to report an exceptional association of xeroderma pigmentosum and rhabdoid renal tumor in a 7-year-old girl, diagnosed with imaging and treated by adjuvant chemotherapy.
Fatima zohra Ahsayen, MD   +6 more
doaj  

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