Genetic: Xeroderma Pigmentosum
Genetic Association between Xeroderma Pigmentosum Polymorphism Rs2228000 with Staging and Development of Bladder Cancer
... In this study, the genotypes and Allele frequencies of XPC rs2228000 polymorphism and the risk of bladder cancer has been investigated. Both individuals (bladder cancer and control) were in Hardy– Weinberg equilibrium ...
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Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation
... Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione ...
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In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum
... Background: Xeroderma Pigmentosum (XP) is a rare skin disorder characterized by skin hypersensitivity to sunlight and abnormal ...the genetic cause of a severe XP phenotype in a consanguineous ...
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Association of the Asp312Asn and Lys751Gln polymorphisms in the XPD gene with the risk of non-Hodgkin’s lymphoma: evidence from a meta-analysis
... to genetic instability and ...the xeroderma pigmentosum complementation group D ( XPD ) gene with the risk of non-Hodgkin ’ s lymphoma (NHL), but the conclusions have been ...
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Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum
... first genetic complementation analysis of XP40OS cells had suggested that the patient might be suffering from XP-C, we searched for causable muta- tions in the XPC locus ...Human Genetic Variation Database, ...
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Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
... Patients were referred by their neurologists to participate in the NIH Undiagnosed Diseases Program (UDP). They en- rolled in protocol 76-HG-0238 (ClinicalTrials.gov Identifier: NCT00369421) approved by the National Human ...
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XPA A23G polymorphism and risk of digestive system cancers: a meta-analysis
... “xeroderma pigmentosum group A or XPA or DNA repair gene or NER”, “genetic polymorphism or polymorphisms or variant”, and “digestive system cancer or gastrointestinal cancers or gastric cancer or ...
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Carrier detection in xeroderma pigmentosum
... of xeroderma pigmentosum (XP) genes with coded samples of either peripheral blood lymphocytes or skin fibroblasts, using a cytogenetic assay shown previously to detect individuals with cancer-prone ...
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Original Article A meta-analysis of xeroderma pigmentosum gene D Ls751Gln polymorphism and susceptibility to hepatocellular carcinoma
... multiple genetic and environmental factors that have not been fully illustrated ...cells. Xeroderma pigmentosum gene D (XPD) is one of DNA repair genes for the forma- tion of DNA repair signaling ...
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Gene Expression Profiling of Xeroderma Pigmentosum
... XP includes seven genetic subgroups known as complementation groups (XP-A to XP-G) that represent different genes in the NER pathway (Table 1). The functions of most of the XP and CS proteins associated with NER ...
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Xeroderma Pigmentosum with Desquamative Gingivitis a Rare Case Report and Detailed Review of Literature
... In xeroderma pigmentosum, a rare genodermatosis, transmitted as an autosomal recessive disorder, excessive solar damage to the skin develops at an early ...neurologist. Genetic counseling is an ...
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Xeroderma pigmentosum: a rare genodermatosis
... Intercession in patients with XP to manage precancerous or cancerous lesions are analogous to those for the universal population. Freezing with liquid nitrogen is an alternative to manage actinic keratosis (AKs), while ...
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Primary ovarian insufficiency in a xeroderma pigmentosum patient with consanguineous parents
... primary adrenal insufficiency, vitiligo, myasthenia gravis, hypoparathyroidism, recurrent mucocutaneous candidiasis or type one diabetes may be associated with autoimmune oophoritis which may occur as part of type 1 or ...
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Replication of simian virus 40 DNA in normal human fibroblasts and in fibroblasts from xeroderma pigmentosum.
... The studies described above indicated that the semipermissive nature of infection of early passage human fibroblasts with SV40 is consistent with a readily detectable level of viral DNA [r] ...
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Association of human XPA rs1800975 polymorphism and cancer susceptibility: an integrative analysis of 71 case–control studies
... Results: In total, 71 case–control studies with 19,257 cases and 30,208 controls from 52 publications were included for pooling analysis. We observed an enhanced overall cancer susceptibility in cancer cases compared ...
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Xeroderma pigmentosum
... Xeroderma pigmentosum (literally dry pigmented skin), is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly ele- vated incidence [r] ...
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Gene expression of herpes simplex virus. I. Analysis of cytoplasmic RNAs in infected xeroderma pigmentosum cells.
... MILLETTE* Department of Immunology and Microbiology, Wayne State University School of Medicine, Detroit, Michigan 48201 RNAs which are synthesized and accumulate in the cytoplasm of unin[r] ...
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Impaired interferon production and natural killer cell activation in patients with the skin cancer prone disorder, xeroderma pigmentosum
... After a 2-h pulse incubation with different doses of polyIC or medium alone, lymphocytes from five XP patients or three non-XP skin cancer controls and three normal controls were washed [r] ...
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Abnormal ultraviolet mutagenic spectrum in plasmid DNA replicated in cultured fibroblasts from a patient with the skin cancer prone disease, xeroderma pigmentosum
... with xeroderma pigmentosum, complementation group D, introduce into ultraviolet (UV) damaged, replicating ...with xeroderma pigmentosum have clinical and cellular UV hypersensitivity, ...
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The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)
... The generalized neurodegenerative changes seen in the XP-A and XP-D cases were not ob- served in the XP-C cases although the older patient had focal loss of Purkinje cells and, neuronal [r] ...
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