[PDF] Top 20 Xeroderma pigmentosum: a rare genodermatosis
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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 ... See full document
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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 ...of xeroderma ... See full document
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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 ...characteristics: ... See full document
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Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
... including xeroderma pigmen- tosum (XP), Cockayne syndrome (CS), ataxia telangiectasia, trichothiodystrophy, and Nijmegen breakage ...a rare autosomal recessive disorder arising from deficient DNA ... See full document
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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 ... See full document
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Xeroderma pigmentosum
... The XP variant (XP-V) sub-type refers to patients with a somewhat different molecular defect (see below). These patients may display relatively mild features, but some have severe skin problems. Individuals with XP-V do ... See full document
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Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum
... a rare hereditary disease characterized by high sensitivity to ultraviolet (UV) rays and development of skin ...Japan, xeroderma pigmentosum complementation group A (XP-A), which involves the most ... See full document
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Primary ovarian insufficiency in a xeroderma pigmentosum patient with consanguineous parents
... of xeroderma pigmentosum is usually done clinically in which three main categories are involved; these are: the skin, the eyes and the nervous system [2, ... See full document
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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 ... See full document
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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)
... Microscopic description of sections from the midbrain, pons, medulla and hippocampus revealed neuronal loss and gliosis. In addition increased capillary density was seen in the thalamus. Sections from the right frontal ... See full document
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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 ... See full document
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Xeroderma pigmentosum-Cockayne syndrome complex
... Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, ... See full document
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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] ... See full document
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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] ... See full document
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Xeroderma Pigmentosa: High Risk for Ocular Neoplasia
... Aim of Work: The aim of our work was early cytological and laboratory detection of any ocular surface malignant changes in xeroderma pigmentosa. Patients and Methods: Eighteen cases with xeroderma ... See full document
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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] ... See full document
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Association of human XPA rs1800975 polymorphism and cancer susceptibility: an integrative analysis of 71 case–control studies
... UV irradiation, tobacco, alkylating agents or pollutants, and xeroderma pigmentosum group A (XPA) acts as an essential NER member [1, 2]. XPA protein, as a zinc fin- ger DNA binding protein and an important ... See full document
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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, ... See full document
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Gene expression of herpes simplex virus. II. UV radiological analysis of viral transcription units.
... By using host cells lacking excision repair activity, xeroderma pigmentosum XP fibroblasts, to prevent the repair of the input irradiated viral genome, we have been able to analyze the s[r] ... See full document
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Unicystic Ameloblastoma in Anterior Maxilla -...
... Unicysticameloblastoma is a tumor of young age groupwith slightly more than 50% of cases occurring in patients in the second decade of life, typically unilocular radiographic appearance, macroscopically cystic nature and ... See full document
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