Advances in Down Syndrome Research

Front Cover
Gert Lubec
Springer Science & Business Media, Dec 19, 2003 - Medical - 242 pages
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"Advances in Down Syndrome Research” represents updated research in several areas of Down Syndrome (DS). A new promising animal model of DS is reported and this opens new opportunities to study pathomechanisms and pharmacological approaches as it is more than difficult to carry out studies in humans and the clinical features are highly variable. In terms of biology, cell cycle and stem cell studies and in terms of biochemistry, relevance of studies on a specific protein kinase, channels, transporters, superoxide dismutase, antioxidant system, chromosome assembly factor and other important biological structures are provided. And again, the gene dosage hypothesis is addressed and although the vast majority of chromosome 21 gene products is unchanged in fetal DS brain, a few specific chromosome 21 encoded structures including transcription factors are indeed overexpressed although findings in fetal DS are different from those in adult DS brain when Alzheimer-like neuropathology supervenes.
 

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Contents

A new mouse model for Down syndrome
1
Predicting pathway perturbations in Down syndrome
21
ERG both encoded on chromosome 21 in brains of patients with Down syndrome and Alzheimers disease
39
Cell cycle and cell size regulation in Down Syndrome cells
51
challenging a hypothesis
59
implications for the gene dosage effect hypothesis
67
Overexpression of C1tetrahydrofolate synthase in fetal Down Syndrome brain
85
Increased expression of human reduced folate carrier in fetal Down syndrome brain
95
genetic and biochemical properties
139
Cytoskeleton derangement in brain of patients with Down Syndrome Alzheimers disease and Picks disease
149
The cerebral cortex in Fetal Down Syndrome
159
Polysomnography in transgenic hSODl mice as Down syndrome model
165
Spectrum of cognitive behavioural and emotional problems in children and young adults with Down syndrome
173
Overexpression of transcription factor BACH1 in fetal Down Syndrome brain
193
Down syndrome and associated congenital malformations
207
RNA Microarray analysis of channels and transporters in normal and fetal Down Syndrome trisomy 21 brain
215

Chromosome 21 KIR channels in brain development
105
Reduction of chromatin assembly factor 1 p60 and C21orf2 protein encoded on chromosome 21 in Down Syndrome brain
117
neurobiological functions and Down syndrome implications
129
Heart type fatty acid binding protein tHFABP is decreased in brains of patients with Down syndrome and Alzheimers disease
225
cells and trophoblasts
235
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