Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
M Dierssen, E Martí, C Pucharcós, V Fotaki, X Altafaj, K Casas, A Solans, M L Arbonés, C Fillat, X Estivil. Functional genomics of Down syndrome: a multidisciplinary approach. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771739. |
the availability of the dna sequence of human chromosome 21 (hsa21) is a landmark contribution that will have an immediate impact on the study of the role of specific genes to down syndrome (ds). |
2002-06-10 |
2023-08-12 |
human |
M Dierssen, E Martí, C Pucharcós, V Fotaki, X Altafaj, K Casas, A Solans, M L Arbonés, C Fillat, X Estivil. Functional genomics of Down syndrome: a multidisciplinary approach. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771739. |
trisomy 21, full or partial, is a major cause of mental retardation and other phenotypic abnormalities, collectively known as down syndrome (ds), a disorder affecting 1 in 700 births. |
2002-06-10 |
2023-08-12 |
human |
E Engidawork, N Balic, J F Juranville, M Fountoulakis, M Dierssen, G Lube. Unaltered expression of Fas (CD95/APO-1), caspase-3, Bcl-2 and annexins in brains of fetal Down syndrome: evidence against increased apoptosis. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771740. |
accumulating evidence indicates that enhanced apoptosis (programmed cell death) in down syndrome (ds) may play a role in mental retardation and precocious neurodegeneration of the alzheimer-type. |
2002-06-10 |
2023-08-12 |
Not clear |
T Gulesserian, E Engidawork, B C Yoo, N Cairns, G Lube. Alteration of caspases and other apoptosis regulatory proteins in Down syndrome. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771741. |
apoptosis has been implicated in the selective neuronal loss of down syndrome (ds). |
2002-06-10 |
2023-08-12 |
human |
E Engidawork, T Gulesserian, R Seidl, N Cairns, G Lube. Expression of apoptosis related proteins: RAIDD, ZIP kinase, Bim/BOD, p21, Bax, Bcl-2 and NF-kappaB in brains of patients with Down syndrome. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771742. |
down syndrome (ds) is a genetic disease that exhibits significant neuropathological parallels with alzheimer's disease (ad). |
2002-06-10 |
2023-08-12 |
Not clear |
B Balcz, L Kirchner, N Cairns, M Fountoulakis, G Lube. Increased brain protein levels of carbonyl reductase and alcohol dehydrogenase in Down syndrome and Alzheimer's disease. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771743. |
an elevation of carbonyl compounds that are biomarkers of and leading to oxidative stress has been demonstrated in down syndrome (ds) and alzheimer's disease (ad) brains and seems to be the result of a multifactorial process. |
2002-06-10 |
2023-08-12 |
Not clear |
E Kitzmueller, S Greber, M Fountoulakis, G Lube. Carbohydrate handling enzymes in fetal Down syndrome brain. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771744. |
impaired glucose metabolism in adult down syndrome (ds) has been well-documented in vivo and information on the underlying biochemical defect i.e. |
2002-06-10 |
2023-08-12 |
Not clear |
E Engidawork, T Gulesserian, N Balic, N Cairns, G Lube. Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771745. |
however, little is known about the alteration of these receptors in a related disease, down syndrome (ds) which might be of importance for therapeutic strategies. |
2002-06-10 |
2023-08-12 |
human |
S H Kim, M Fountoulakis, N Cairns, G Lube. Protein levels of human peroxiredoxin subtypes in brains of patients with Alzheimer's disease and Down syndrome. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771746. |
we applied the proteomic approach to study protein levels of three subtypes of human prx in brain regions from patients with alzheimer's disease (ad) and down syndrome (ds). |
2002-06-10 |
2023-08-12 |
human |
S H Kim, M Dierssen, J C Ferreres, M Fountoulakis, G Lube. Increased protein levels of heterogeneous nuclear ribonucleoprotein A2/B1 in fetal Down syndrome brains. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771750. |
here we studied the protein levels of hnrnps (a2/b1, h and h') in fetal brain with down syndrome (ds; n = 5) compared to controls (n = 7). |
2002-06-10 |
2023-08-12 |
drosophila_melanogaster |
S H Kim, A C Nairn, N Cairns, G Lube. Decreased levels of ARPP-19 and PKA in brains of Down syndrome and Alzheimer's disease. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771749. |
we detected a downregulated sequence with 100% homology with arpp-19 in temporal cortex of patients with down syndrome (ds) as compared to controls, but not in alzheimer's disease (ad) using differential displaypolymerase chain reaction (dd-pcr). |
2002-06-10 |
2023-08-12 |
Not clear |
M S Cheon, M Fountoulakis, N J Cairns, M Dierssen, K Herkner, G Lube. Decreased protein levels of stathmin in adult brains with Down syndrome and Alzheimer's disease. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771751. |
here we evaluated protein levels of stathmin in adult brain from patients with ad and down syndrome (ds) showing ad-like pathology by applying proteomic technologies with two-dimensional (2-d) gel electrophoresis, matrix-assisted laser desorption ionization mass spectroscopy (maldi-ms) identification and specific software for quantification of proteins. |
2002-06-10 |
2023-08-12 |
Not clear |
N J Cairn. Molecular neuropathology of transgenic mouse models of Down syndrome. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771752. |
down syndrome (ds) is a complex, clinically heterogeneous disorder which shows both impairment of neurodevelopement and the neurodegenerative changes of alzheimer's disease (ad). |
2002-06-10 |
2023-08-12 |
mouse |
B Lubec, B C Yoo, M Dierssen, N Balic, G Lube. Down syndrome patients start early prenatal life with normal cholinergic, monoaminergic and serotoninergic innervation. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771753. |
information on the fetal brain in down syndrome (ds) is limited. |
2002-06-10 |
2023-08-12 |
human |
M S Cheon, M Fountoulakis, M Dierssen, J C Ferreres, G Lube. Expression profiles of proteins in fetal brain with Down syndrome. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771754. |
in the current study we performed "gene hunting" at the protein level and identified and quantified 10 protein spots in control and down syndrome (ds) fetal brains. |
2002-06-10 |
2023-08-12 |
Not clear |
B C Yoo, M Fountoulakis, M Dierssen, G Lube. Expression patterns of chaperone proteins in cerebral cortex of the fetus with Down syndrome: dysregulation of T-complex protein 1. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771755. |
although many studies have focused on the critical role of chaperones in protein folding and their relevance in protein conformational diseases such as alzheimer's disease (ad) and prion disease, limited information is available on their expression pattern in ad-related disease, down syndrome (ds). |
2002-06-10 |
2023-08-12 |
Not clear |
E Engidawork, N Baiic, M Fountoulakis, M Dierssen, S Greber-Platzer, G Lube. Beta-amyloid precursor protein, ETS-2 and collagen alpha 1 (VI) chain precursor, encoded on chromosome 21, are not overexpressed in fetal Down syndrome: further evidence against gene dosage effect. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771756. |
down syndrome (ds) is the most common human chromosomal abnormality caused by an extra copy of chromosome 21 and characterized clinically by somatic anomalies, mental retardation and precocious dementia. |
2002-06-10 |
2023-08-12 |
human |
E Engidawork, J C Roberts, R Hardmeier, R J Scheper, G Lube. Expression of the multidrug resistance P glycoprotein (Pgp) and multidrug resistance associated protein (MRP1) in Down syndrome brains. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771758. |
the observation of upregulated sequences that are homologous to the mycobacterium smegmatis phage resistance (mpr) gene and putative abc transporters subunits in fetal down syndrome (ds) using the gene hunting technique, subtractive hybridization formed the rationale for this study. |
2002-06-10 |
2023-08-12 |
mouse |
M Freidl, T Gulesserian, G Lubec, M Fountoulakis, B Lube. Deterioration of the transcriptional, splicing and elongation machinery in brain of fetal Down syndrome. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771760. |
regulation of gene expression, differentiation, growth and migration in down syndrome (ds) has been reported to occur early in life pointing to impairment of the complex system of transcription and or translation and indeed, altered expression of transcription factors has been reported in adult ds brain. |
2002-06-10 |
2023-08-12 |
Not clear |
R Weitzdoerfer, M Dierssen, M Fountoulakis, G Lube. Fetal life in Down syndrome starts with normal neuronal density but impaired dendritic spines and synaptosomal structure. Journal of neural transmission. Supplementum. issue 61. 2002-06-10. PMID:11771761. |
information on fetal brain in down syndrome (ds) is limited and there are only few histological, mainly anecdotal reports and no systematic study on the wiring of the brain in early prenatal life exists. |
2002-06-10 |
2023-08-12 |
Not clear |