Download e-book for kindle: The Consequences of Chromosome Imbalance: Principles, by Charles J. Epstein

By Charles J. Epstein

ISBN-10: 0511529708

ISBN-13: 9780511529702

ISBN-10: 052103809X

ISBN-13: 9780521038096

ISBN-10: 0521254647

ISBN-13: 9780521254649

This booklet considers intimately the mechanisms of an enormous human challenge. Chromosome imbalance impacts all phases of existence in methods starting from spontaneous abortion and retardation to behavioural difficulties and malignancy. within the effects of Chromosome Imbalance: ideas, Mechanisms, and types, Charles J. Epstein issues himself with how and why a selected chromosome imbalance produces a particular phenotype. His primary objective is to attach chromosome aberrations with sensible abnormalities when it comes to gene expression, developmental and mobilephone biology, and metabolism. via his exam of this dating, we research extra approximately basic improvement and serve as. The publication starts off with an exploration of numerous human autosomal aneuploid phenotypes, with specific emphasis at the dating among genotype and phenotype. within the subsequent half, extensive theoretical concerns of the mechanisms which generate those phenotypes are tested with regards to reports on guy and different organisms similar to micro organism and mice. Experimental techniques to check the results of aneuploidy are offered subsequent with distinctive consciousness paid to the improvement of version platforms for learning human aneuploidy.

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Additional resources for The Consequences of Chromosome Imbalance: Principles, Mechanisms, and Models

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H. (1996). Very early and transient vegetal plate expression of SpKroxl, a Kruppel/Krox gene from Strongylocentrotus purpuratus. Mech. Dev. 60, 185-195. , Angerer, L. , Gagnon, M. , and Angerer, R. C. (1995). Characterization of the SpHE promoter that is spatially regulated along the animal vegetal axis of the sea urchin embryo. Dev. Biol. 171, 195-211. , Angerer, L. , and Angerer, R. C. (1997). Multiple positive cis elements regulate the asymmetric expression of the SpHE gene along the sea urchin embryo animal-vegetal axis.

Shaded boxes above the line represent sites of interaction known to stimulate transcription (+), while open boxes below the line represent sites of interaction known to repress transcription (-). , 1995b,c). Except for the P1 factor, which has been partially purified, clones have been obtained for each of the factors depicted. , 1997, and references therein). Brackets above the line show the approximate extent of the two CyHIa regulatory modules (the proximal and middle modules). Scale bar represents 1O0 bp.

Cameron, R. , Britten, R. , and Davidson, E. H. (1993). The embryonic ciliated band of the sea urchin, Strongylocentrotus purpuratus derives from both oral and aboral ectoderm. Dev. Biol. 160, 369-376. Chan, S. , Xu, N. , Niemeyer, C. , Bone, J. , and Flytzanis, C. N. (1992). SpCOUP-TFmA sea-urchin member of the steroid thyroid-hormone receptor family. Proc. Natl. Acad. Sci. A. 89, 10568-10572. Char, B. , Bell, J. , Coffman, J. , Harrington, M. , Becerra, J. , Davidson, E. , Calzone, F. , and Maxson, R.

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The Consequences of Chromosome Imbalance: Principles, Mechanisms, and Models by Charles J. Epstein

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