Search Results - "Cuthbert, A. P."
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SURF1 , encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
Published in Nature genetics (01-12-1998)“…Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly…”
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2
Telomerase repressor sequences on chromosome 3 and induction of permanent growth arrest in human breast Cancer cells
Published in JNCI : Journal of the National Cancer Institute (06-01-1999)“…Activation of the enzyme telomerase, which has been associated with cellular immortality, may constitute a key step in the development of human cancer…”
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3
A telomere-independent senescence mechanism is the sole barrier to Syrian hamster cell immortalization
Published in Oncogene (31-12-1998)“…Reactivation of telomerase and stabilization of telomeres occur simultaneously during human cell immortalization in vitro and the vast majority of human…”
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A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13
Published in American journal of human genetics (01-02-2001)“…We have studied cultured skin fibroblasts from three siblings and one unrelated individual, all of whom had fatal mitochondrial disease manifesting soon after…”
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5
SNP Subset Selection for Genetic Association Studies
Published in Annals of human genetics (01-11-2003)“…Summary Association studies for disease susceptibility genes rely on the high density of SNPs within candidate genes. However, the linkage disequilibrium…”
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Telomerase Suppression by Chromosome 6 in a Human Papillomavirus Type 16-Immortalized Keratinocyte Cell Line and in a Cervical Cancer Cell Line
Published in JNCI : Journal of the National Cancer Institute (06-06-2001)“…Background: High-risk human papillomavirus (HPV) types play a major role in the development of cervical cancer in vivo and can induce immortalization of…”
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Human squamous cell carcinomas lose a mortality gene from chromosome 6q14.3 to q15
Published in Oncogene (20-03-2003)“…Normal human keratinocytes possess a finite replicative lifespan. Most advanced squamous cell carcinomas (SCCs), however, are immortal, a phenotype that is…”
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Genetic association between EPHX1 and Crohn’s disease: population stratification, genotyping error, or random chance?
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Genetic Variation at the Chromosome 16 Chemokine Gene Cluster: Development of a Strategy for Association Studies in Complex Disease
Published in Annals of human genetics (01-09-2003)“…Summary The chemokine gene cluster [CCL22, CX3CL1, CCL17] (previously known as [SCYA22, SCYD1, SCYA17]) is a candidate locus for one of the susceptibility…”
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Construction and characterization of a highly stable human: rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies
Published in Cytogenetics and cell genetics (1995)“…Human:rodent somatic cell hybrids carrying a single, intact, selectable human chromosome are valuable both for functional somatic cell genetic analysis and…”
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Genetic and functional analyses exclude mortality factor 4 (MORF4) as a keratinocyte senescence gene
Published in Cancer research (Chicago, Ill.) (01-05-1999)“…Approximately 50% of immortal human keratinocyte lines show loss of heterozygosity of chromosome region 4q33-q34, and the reintroduction of chromosome 4 into…”
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Mechanisms involved in the immortalization of mammalian cells by ionizing radiation and chemical carcinogens
Published in Carcinogenesis (New York) (01-02-1995)“…Immortalization is a prerequisite for the clonal evolution and malignant transformation of normal mammalian cells in culture. In order to gain a mechanistic…”
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13
Human chromosome 16 suppresses metastasis but not tumorigenesis in rat prostatic tumor cells
Published in Cancer research (Chicago, Ill.) (15-10-1998)“…Genomic aberrations at the chromosome 16q arm are one of the most consistent abnormalities observed by loss of heterozygosity and comparative genomic…”
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14
Functional evidence of novel tumor suppressor genes for cutaneous malignant melanoma
Published in Cancer research (Chicago, Ill.) (01-02-1999)“…Losses of heterozygosity involving chromosomes 9 and 10 are frequent events in the development and progression of cutaneous malignant melanoma. To investigate…”
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Identification of human tumour suppressor genes by monochromosome transfer : rapid growth-arrest response mapped to 9p21 is mediated solely by the cyclin-D-dependent kinase inhibitor gene, CDKN2A (p16INK4A)
Published in Carcinogenesis (New York) (01-08-1996)“…Microcell transfer of intact normal human chromosomes into immortal mouse and hamster fibroblast cell lines has revealed growth suppressive activity associated…”
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Genetic Evidence for Interaction of the 5q31 Cytokine Locus and the CARD15 Gene in Crohn Disease
Published in American journal of human genetics (01-04-2003)“…A common haplotype spanning 250 kb in the cytokine gene cluster on chromosome 5q31 has recently been reported to be strongly associated with Crohn disease (CD)…”
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Human acrocentric chromosomes with transcriptionally silent nucleolar organizer regions associate with nucleoli
Published in The EMBO journal (01-06-2001)“…Human ribosomal gene repeats are distributed among five nucleolar organizer regions (NORs) on the p arms of acrocentric chromosomes. On exit from mitosis,…”
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Regulation of human telomerase activity: Repression by normal chromosome 3 abolishes nuclear telomerase reverse transcriptase transcripts but does not affect c-Myc activity
Published in Cancer research (Chicago, Ill.) (15-10-2001)“…Telomerase is required for the complete replication of chromosomal ends. In tumors, the human telomerase reverse transcriptase subunit (hTERT) is up-regulated,…”
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Cell immortalization as a key, rate-limiting event in malignant transformation: approaches toward a molecular genetic analysis
Published in Toxicology letters (01-04-1993)“…Recent advances using somatic cell genetic approaches have provided a convincing body of evidence that the senescence of mammalian cells in culture is…”
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A chromosome 3-encoded repressor of the human telomerase reverse transcriptase (hTERT) gene controls the state of hTERT chromatin
Published in Cancer research (Chicago, Ill.) (01-02-2003)“…Telomerase is crucial for human carcinogenesis. The limiting component of telomerase activity is telomerase reverse transcriptase (hTERT), undetectable in…”
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