Ocular and Periocular Tumors in Xeroderma Pigmentosum: A Study of 120 Asian Indian Patients.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2018.10.011
Abstract: PURPOSE We studied the incidence, treatment, and outcome of ocular and periocular tumors in patients with xeroderma pigmentosum (XP). DESIGN Retrospective case series. METHODS This single-institution study included 120 patients with XP who underwent intervention… read more here.
Keywords: ocular surface; xeroderma pigmentosum; periocular tumors; ocular periocular ... See more keywords
Xeroderma pigmentosum du groupe XPC associé à un nodule thyroïdien
Sign Up to like & getrecommendations! Published in 2018 at "Annales d'Endocrinologie"
DOI: 10.1016/j.ando.2018.06.598
Abstract: Introduction Le xeroderma pigmentosum (XP) est une genodermatose recessive rare caracterisee par une sensibilite accrue aux rayons ultraviolets secondaire a un defaut de reparation de l’ADN. Il s’associe frequemment a des manifestations endocriniennes, en particulier,… read more here.
Keywords: nodule; pigmentosum groupe; xeroderma pigmentosum; groupe xpc ... See more keywords
Xeroderma pigmentosum
Sign Up to like & getrecommendations! Published in 2018 at "Annales de dermatologie et de venereologie"
DOI: 10.1016/j.annder.2018.09.004
Abstract: Xeroderma pigmentosum (XP) is a form of general dermatosis characterised by photo-induced cutaneous-ocular impairment and by skin cancers. In addition to these signs, there may also be neurological involvement. This disease is related to a… read more here.
Keywords: diagnosis; disease; pigmentosum; xeroderma pigmentosum ... See more keywords
Pronostic des patients porteurs de xeroderma pigmentosum dans un contexte de bas niveau socioéconomique
Sign Up to like & getrecommendations! Published in 2019 at "Annales De Dermatologie Et De Venereologie"
DOI: 10.1016/j.annder.2019.09.245
Abstract: Introduction Le xeroderma pigmentosum (XP) reste relativement frequent dans certaines regions a fort taux de consanguinite et dans des familles relativement nombreuses, comme au Moyen-Orient et au Maghreb. Si les mesures pour une photoprotection appropriee… read more here.
Keywords: dans des; des cas; pigmentosum; xeroderma pigmentosum ... See more keywords
Neurochemistry evaluated by MR spectroscopy in a patient with xeroderma pigmentosum group A
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2018.06.013
Abstract: MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal… read more here.
Keywords: xeroderma pigmentosum; patient xeroderma; spectroscopy; pigmentosum group ... See more keywords
High levels of oxidatively generated DNA damage 8,5'-cyclo-2'-deoxyadenosine accumulate in the brain tissues of xeroderma pigmentosum group A gene-knockout mice.
Sign Up to like & getrecommendations! Published in 2019 at "DNA repair"
DOI: 10.1016/j.dnarep.2019.04.004
Abstract: Xeroderma pigmentosum (XP) is a genetic disorder associated with defects in nucleotide excision repair, a pathway that eliminates a wide variety of helix-distorting DNA lesions, including ultraviolet-induced pyrimidine dimers. In addition to skin diseases in… read more here.
Keywords: oxidatively generated; group gene; cyclo; xeroderma pigmentosum ... See more keywords
Autopsy findings and clinical features of a mild-type xeroderma pigmentosum complementation group A siblings: 40 years of follow-up
Sign Up to like & getrecommendations! Published in 2019 at "JAAD Case Reports"
DOI: 10.1016/j.jdcr.2018.04.017
Abstract: Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by abnormally accelerated photoaging skin symptoms for the patient's age caused by failure to repair DNA lesions damaged by ultraviolet radiation.1 Two sibling cases of Japanese… read more here.
Keywords: findings clinical; clinical features; pigmentosum; xeroderma pigmentosum ... See more keywords
New polymorphisms of Xeroderma Pigmentosum DNA repair genes in myelodysplastic syndrome.
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DOI: 10.1016/j.leukres.2017.03.012
Abstract: The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. To assess the functional role between these polymorphisms and… read more here.
Keywords: pigmentosum dna; dna repair; dna; xeroderma pigmentosum ... See more keywords
Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.
Sign Up to like & getrecommendations! Published in 2021 at "Klinische Padiatrie"
DOI: 10.1055/a-1552-3788
Abstract: BACKGROUND Xeroderma pigmentosum (XP) is a rare recessively inherited disorder that presents clinical and genetic heterogeneity. Mutations in eight genes, of which seven are involved in nucleotide excision repair (NER) pathway have been reported to… read more here.
Keywords: large consanguineous; three large; xpc gene; xeroderma pigmentosum ... See more keywords
Phosphorylation of xeroderma pigmentosum group C regulates ultraviolet-induced DNA damage repair
Sign Up to like & getrecommendations! Published in 2018 at "Nucleic Acids Research"
DOI: 10.1093/nar/gky239
Abstract: Abstract Nucleotide excision repair (NER) is the most versatile DNA repair system that removes bulky DNA damage induced by various endogenous and exogenous factors, including UV radiation. Defects in NER can lead to the xeroderma… read more here.
Keywords: dna damage; xeroderma pigmentosum; xpc; phosphorylation ... See more keywords
Metronidazole-induced hepatotoxicity in a patient with xeroderma pigmentosum
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000029416
Abstract: Abstract Rationale: Whereas metronidazole-induced hepatotoxicity is quite rare in the general population, in individuals carrying a nucleotide excision repair disorder, namely Cockayne syndrome, there is a high risk of developing this complication. Patient concerns: We… read more here.
Keywords: xeroderma pigmentosum; metronidazole induced; hepatotoxicity; patient ... See more keywords