xeroderma pigmentosum
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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Xeroderma Pigmentosum with Desquamative Gingivitis a Rare Case Report and Detailed Review of Literature
... Xeroderma pigmentosum serves as the prototype herita- ble disease with increased sensitivity to cellular injury ...[1-4]. Xeroderma pigmentosum is a rare, genetically het- erogeneous, ...
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Original Article A meta-analysis of xeroderma pigmentosum gene D Ls751Gln polymorphism and susceptibility to hepatocellular carcinoma
... Hepatocellular carcinoma (HCC) is one com- mon malignant tumor, especially in China, where about 42.5% of all liver cancer cases worldwide occurs in each year [1, 2]. The patho- genesis of HCC is a complicated process ...
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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 syndrome ...
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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 genetic ...
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Genetic Association between Xeroderma Pigmentosum Polymorphism Rs2228000 with Staging and Development of Bladder Cancer
... Xeroderma pigmentosum, complementation group C, also known as XPC. One of the most common complementation groups of XP seen in patients is that of XPC [1, 2]. XPC patients exhibit sensitivity to UV ...
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Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum
... One of the two mutations was a single-nucleotide non- synonymous substitution at GRCh38 position 45,352,351 (GRCh37 position 45,855,609) on chromosome 19. This nonsynonymous mutation rs758439420 (C to T) pre- dicts a ...
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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 pigmentation. The aim of this study was to investigate the genetic cause of a ...
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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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Malignant and Pre Malignant Manifestations of Xeroderma Pigmentosum in Ghanaians
... Introduction: Xeroderma pigmentosum is an autosomal recessive disease with sun sensitivity, photophobia, early onset of freckling, and subsequent neoplastic changes on sun-exposed ...genes; xeroderma ...
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Xeroderma pigmentosum: a rare genodermatosis
... oral Xeroderma pigmentosum is a rare genodermatosis as well as rare autosomal recessive disease in which excessive ultraviolet radiation development of cutaneous and internal malignancies at an early ...
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Xeroderma Pigmentosum with Ocular Squamous Cell Carcinoma-
... Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatoses characterized by increased cellular photosensitivity to ultraviolet radiation and early onset of skin ...
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Xeroderma pigmentosum-Cockayne syndrome complex
... Since the last review of XP-CS in 2001, the number of patients described in the literature has increased by a factor of almost five. The greater number of patients has allowed a more thorough analysis of XP-CS than was ...
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Gene Expression Profiling of Xeroderma Pigmentosum
... Xeroderma pigmentosum (XP) is a rare recessive disorder that is characterized by extreme sensitivity to UV light. UV light exposure results in the formation of DNA damage such as cyclobutane dimers and ...
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Primary ovarian insufficiency in a xeroderma pigmentosum patient with consanguineous parents
... Xeroderma pigmentosum (XP) is known to be an autosomal recessive inherited disorder. One other rare subtype of the disease that is called XP dominant type is inherited as an autosomal dominant disorder ...
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Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
... Patients with genome instability caused by defects in the DNA damage repair response illustrate the detrimental effect of cumulative DNA damage. This includes heightened cancer risk, accelerated aging, and ...
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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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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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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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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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