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Articles 1 - 4 of 4
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 …
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 …