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Articles 1 - 11 of 11
Full-Text Articles in Medicine and Health Sciences
Up-Regulation Of Tumor Necrosis Factor Superfamily Genes In Early Phases Of Photoreceptor Degeneration, Sem Genini, William Beltran, Gustavo D. Aguirre
Up-Regulation Of Tumor Necrosis Factor Superfamily Genes In Early Phases Of Photoreceptor Degeneration, Sem Genini, William Beltran, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
We used quantitative real-time PCR to examine the expression of 112 genes related to retinal function and/or belonging to known pro-apoptotic, cell survival, and autophagy pathways during photoreceptor degeneration in three early-onset canine models of human photoreceptor degeneration, rod cone dysplasia 1 (rcd1), X-linked progressive retinal atrophy 2 (xlpra2), and early retinal degeneration (erd), caused respectively, by mutations in PDE6B, RPGRORF15, and STK38L. Notably, we found that expression and timing of differentially expressed (DE) genes correlated with the cell death kinetics. Gene expression profiles of rcd1 and xlpra2 were similar; however rcd1 was more severe as demonstrated by the results …
A Common Human Beta Globin Splicing Mutation Modeled In Mice., J. Lewis, Baoli Yang, R. Kim, H. Sierakowska, R. Kole, O. Smithies, N. Maeda
A Common Human Beta Globin Splicing Mutation Modeled In Mice., J. Lewis, Baoli Yang, R. Kim, H. Sierakowska, R. Kole, O. Smithies, N. Maeda
Baoli Yang
The betaIVS-2-654 C-->T mutation accounts for approximately 20% of beta thalassemia mutations in southern China; it causes aberrant RNA splicing and leads to beta0 thalassemia. To provide an animal model for testing therapies for correcting splicing defects, we have used the "plug and socket" method of gene targeting in murine embryonic stem cells to replace the two (cis) murine adult beta globin genes with a single copy of the human betaIVS-2-654 gene. No homozygous mice survive postnatally. Heterozygous mice carrying this mutant gene produce reduced amounts of the mouse beta globin chains and no human beta globin, and have …
Regulation Of Terminal Deoxynucleotidyl Transferase Gene Expression In Mice And Men., M. Coleman, Baoli Yang, D. Sorscher
Regulation Of Terminal Deoxynucleotidyl Transferase Gene Expression In Mice And Men., M. Coleman, Baoli Yang, D. Sorscher
Baoli Yang
A nontemplate directed DNA polymerase, terminal deoxynucleotidyl transferase (terminal transferase) is expressed in a tissue-specific and development stage-specific manner. Its enzymatic properties and tissue localization have implicated the protein in development of normal immune function. Significant progress has been made in understanding the enzymology and important domains of this protein. More recently, studies have focused on regulation of the gene that codes for the protein in mice and humans. The murine gene has yielded to these studies more readily than the human gene. A murine basal promoter element has been identified along with several trans-acting protein factors that may regulate …
Linkage Of Two Human Pregnancy-Specific Beta 1-Glycoprotein Genes: One Is Associated With Hydatidiform Mole., Kimberly Leslie, S. Watanabe, K. Lei, D. Chou, C. Plouzek, H. Deng, J. Torres, J. Chou
Linkage Of Two Human Pregnancy-Specific Beta 1-Glycoprotein Genes: One Is Associated With Hydatidiform Mole., Kimberly Leslie, S. Watanabe, K. Lei, D. Chou, C. Plouzek, H. Deng, J. Torres, J. Chou
Kimberly K. Leslie
A genomic clone containing two linked human pregnancy-specific beta 1-glycoprotein (PS beta G) genes has been isolated and characterized. The two genes are arranged in the same 5'----3' orientation; the 3' region (including the A2 and B-C exons) of the upstream gene, PSGGA, is linked to the 5' region (including the 5'/L and L/N exons) of PSGGB, the downstream gene. Depending upon the domains compared, PSGGA and PSGGB share 92-98% nucleotide and 86-95% amino acid sequence identity with PSG93, the most abundant PS beta G transcript. The 3' exon (B-C) of PSGGA contains four alternative splice sites and three polyadenylylation …
Identification Of Proteins Within The Nuclear Factor-Kappa B Transcriptional Complex Including Estrogen Receptor-Alpha, I. Feldman, G. Feldman, C. Mobarak, J. Dunkelberg, Kimberly Leslie
Identification Of Proteins Within The Nuclear Factor-Kappa B Transcriptional Complex Including Estrogen Receptor-Alpha, I. Feldman, G. Feldman, C. Mobarak, J. Dunkelberg, Kimberly Leslie
Kimberly K. Leslie
OBJECTIVE: The objective of the study was to determine whether cross-talk occurs between estrogen receptors (ERs) and nuclear factor-kappa-B (NF-kappaB), to assess the functional consequences of such an ER/NF-kappaB interaction, and to identify other unknown regulatory proteins that may participate in the NF-kappaB transcriptional complex. STUDY DESIGN: Electromobility gel shifts, reporter gene assays, and mass spectrometry were used to identify proteins interacting with the NF-kappaB deoxyribonucleic acid (DNA) response element. RESULTS: ER and the p65 subunit of NF-kappaB colocalized on DNA. This interaction was inhibitory for ER transcriptional activity. Sequencing of proteins bound to the NF-kappaB/DNA complex identified DNA-modifying enzymes, …
Models Representing Type I And Type Ii Human Endometrial Cancers: Ishikawa H And Hec50co Cells, L. Albitar, G. Pickett, M. Morgan, S. Davies, Kimberly Leslie
Models Representing Type I And Type Ii Human Endometrial Cancers: Ishikawa H And Hec50co Cells, L. Albitar, G. Pickett, M. Morgan, S. Davies, Kimberly Leslie
Kimberly K. Leslie
OBJECTIVE: Endometrial cancer models are critical to the advancement of investigation, and Ishikawa H and Hec50co cells have been used as research tools. The purpose of these studies is to verify the degree to which these commonly used cell models share the molecular characteristics of the two major in vivo endometrial cancer subtypes, I and II. METHODS: The studies reported include an analysis of pathologic features, tumor suppressor mutations, detailed karyotyping, and cell cycle regulation. RESULTS: Ishikawa H cells are hormone responsive and have lost PTEN expression. In addition they have lost RB1 expression due to a deletion in exon …
Consequences Of The Loss Of P53, Rb1, And Pten: Relationship To Gefitinib Resistance In Endometrial Cancer, L. Albitar, M. Carter, S. Davies, Kimberly Leslie
Consequences Of The Loss Of P53, Rb1, And Pten: Relationship To Gefitinib Resistance In Endometrial Cancer, L. Albitar, M. Carter, S. Davies, Kimberly Leslie
Kimberly K. Leslie
OBJECTIVE: These studies demonstrate how loss of function mutations or downregulation of key tumor suppressors missing from type I and type II endometrial cancer cells contributes to carcinogenesis and to resistance to the EGFR inhibitor gefitinib (ZD1839). METHODS: Cell models devoid of tumor suppressors PTEN and RB1 or PTEN were studied. PTEN, RB1 and p53 expression was reinstated, and the effects on cell cycle, apoptosis, and cell cycle regulators were evaluated. RESULTS: In Ishikawa H cells that model type I endometrial cancer in the loss of PTEN and RB1, re-expressing PTEN and RB1 increased the apoptotic and G1 phases and …
Characteristics Of Health Information Gatherers, Disseminators, And Blockers Within Families At Risk Of Hereditary Cancer: Implications For Family Health Communication Interventions, L. Koehly, J. Peters, R. Kenen, L. Hoskins, Anne Ersig, N. Kuhn, J. Loud, M. Greene
Characteristics Of Health Information Gatherers, Disseminators, And Blockers Within Families At Risk Of Hereditary Cancer: Implications For Family Health Communication Interventions, L. Koehly, J. Peters, R. Kenen, L. Hoskins, Anne Ersig, N. Kuhn, J. Loud, M. Greene
Anne L. Ersig
OBJECTIVES: Given the importance of the dissemination of accurate family history to assess disease risk, we characterized the gatherers, disseminators, and blockers of health information within families at high genetic risk of cancer. METHODS: A total of 5466 personal network members of 183 female participants of the Breast Imaging Study from 124 families with known mutations in the BRCA1/2 genes (associated with high risk of breast, ovarian, and other types of cancer) were identified by using the Colored Eco-Genetic Relationship Map (CEGRM). Hierarchical nonlinear models were fitted to characterize information gatherers, disseminators, and blockers. RESULTS: Gatherers of information were more …
Analysis Of The P63 Gene In Classical Eec Syndrome, Related Syndromes, And Non-Syndromic Orofacial Clefts, L. L. Barrow, H. Van Bokhoven, Sandra Daack-Hirsch, T. Andersen, S. E. Van Beersum, R. Gorlin, J. C. Murray
Analysis Of The P63 Gene In Classical Eec Syndrome, Related Syndromes, And Non-Syndromic Orofacial Clefts, L. L. Barrow, H. Van Bokhoven, Sandra Daack-Hirsch, T. Andersen, S. E. Van Beersum, R. Gorlin, J. C. Murray
Sandra Daack-Hirsch
EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families. In addition, homozygous p63 null mice exhibit craniofacial abnormalities, limb truncations, and absence of epidermal appendages, such as hair follicles and tooth primordia. In this study, we screened 39 syndromic patients, including four with EEC syndrome, five with syndromes closely related to EEC syndrome, and 30 with other syndromic orofacial clefts and/or limb anomalies. We identified heterozygous p63 mutations in three unrelated cases of …
Who Owns Your Body? A Study In Literature And Law, Lori B. Andrews
Who Owns Your Body? A Study In Literature And Law, Lori B. Andrews
Lori B. Andrews
No abstract provided.
Norm-Of-Reaction: Definition And Misinterpretation Of Animal Research, Steve A. Platt, Charles A. Sanislow
Norm-Of-Reaction: Definition And Misinterpretation Of Animal Research, Steve A. Platt, Charles A. Sanislow
Charles A. Sanislow, Ph.D.
The development of a phenotype is due to an interaction of the genotype with the environment. Two terms have been used to describe the outcome of this interaction, the norm-of-reaction and the reaction range. The first represents the theoretically limitless distribution of the phenotypes that may be expressed by a given genotype. The reaction range implies an upper and lower limit for phenotype expression possible from a given genotype. A critical distinction between the reaction range and the norm-of-reaction is that the norm-of-reaction is a statement of the conceivable interactions found but does not imply any predictability other than that …