Xeroderma pigmentosum complementation group A
Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum
... Each complementation group has been associ- ated with a specific causative gene as well as distinctive patient ...which group the samples belong to. In Japan, xeroderma pigmentosum ...
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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
... 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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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 ...
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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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Xeroderma pigmentosum-Cockayne syndrome complex
... Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, ...into complementation groups according to the gene ...
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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 ...XP complementation group was assigned by genotyping of family ...
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Gene Expression Profiling of Xeroderma Pigmentosum
... XP complementation group and the control fibroblast cell line was tested by performing unsupervised cluster analysis using distance and correlation of all of the duplicate ...XP complementation ...
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Xeroderma pigmentosum
... The clinical features are dependent on exposure to sunlight, the complementation group, the precise nature of the mutation as well as unknown factors. Conse- quently there is a huge variation in clinical ...
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Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
... past the 4th decade. 10 Neurodegeneration is largely reported in younger patients in complementation groups XP-A, XP-B, XP-D, and XP-G but not in XP-C or XP-E and is often her- alded by progressive neurosensory ...
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Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation
... the group XP-A, XP- B, XP-D, or XP-G [12, ...the complementation groups XP-B, XP-D, and XP-G, and only about 12 patients have been reported with XP/CS ...
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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] ...
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Genetic Association between Xeroderma Pigmentosum Polymorphism Rs2228000 with Staging and Development of Bladder Cancer
... isopropyl group where alanine has a methyl group, this amino acid changing could affect the structural and functional of the XPC protein and may reduce its ...
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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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Cockayne Syndrome: A Cellular Sensitivity to Ultraviolet Light
... The cellular UV light sensitivity and lack of x-ray sensitivity is a characteristic these cells share with xeroderma pigmentosum cells.35 However, the Cockayne cells differ in that they [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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GENETIC CHARACTERIZATION OF THE 87C REGION OF THE THIRD CHROMOSOME OF DROSOPHILA MELANOGASTER
... Mutations within a single complementation group have similar lethal phases or subvital phenotypes, consistent with the notion that each complementation group represents[r] ...
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HETEROGENEITY OF LETHALS IN A "SIMPLE" LETHAL COMPLEMENTATION GROUP
... Background substitution of ras-Z mutations: In order to distinguish allele-specific differences from the effects of genetic background, seven of the eight members of[r] ...
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CYTOGENETIC ANALYSIS OF THE CHROMOSOMAL REGION IMMEDIATELY ADJACENT TO THE ROSY LOCUS IN DROSOPHILA MELANOGASTER
... On the basis of its localization by complementation with rosy-region deficiencies, this complementation group corresponds to the previously described Z(3)Sd locus ( SCHALET[r] ...
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Incidence and Clinicopathological features of Neurocutaneous Disorders.
... Apart from the routine investigations like hemogram, renal and liver function tests, X-rays, ECG, Echo, EEG, CT scan and MRI were done in appropriate cases. Skin biopsies were carried out in willing patients who included ...
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