Advances in Down Syndrome Research

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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

Kazuki Y Schulz T C Shinohara T Kadota M Nishigaki R Inoue T
1
Predicting pathway perturbations in Down syndrome
21
Aberrant protein expression
39
Transcription factor REST
59
Overexpression of Cltetrahydro
85
Thiery E Thomas S Vacher S Delezoide A L Delabar J M Creau N
105
Cytoskeleton derangement in brain of patients
149
Polysomnography in transgenic
165
Overexpression
193
Down syndrome and associated congenital malformations
207
Heart type fatty acid bin
225
Prusa A R Marton E Rosner M Freilinger A Bernaschek G Hengst
235
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