Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes
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Concise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic diseaseTrisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteinsThe genomic and transcriptomic landscape of a HeLa cell lineDYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down SyndromeThe importance of understanding individual differences in Down syndromeMouse models of Down syndrome as a tool to unravel the causes of mental disabilitiesTrisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomesGerminal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?What are genes "for" or where are traits "from"? What is the question?Characterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTBEchocardiography in children with Down syndrome.Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome.Profiling expression changes caused by a segmental aneuploid in maize.Effects of aneuploidy on genome structure, expression, and interphase organization in Arabidopsis thaliana.Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development.Genomic responses to abnormal gene dosage: the X chromosome improved on a common strategy.A critical period in cortical interneuron neurogenesis in down syndrome revealed by human neural progenitor cells.Quantitative expression of TMPRSS2 transcript in prostate tumor cells reflects TMPRSS2-ERG fusion status.Interindividual variability in the cardiac expression of anthracycline reductases in donors with and without Down syndrome.Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processesOhnologs in the human genome are dosage balanced and frequently associated with disease.Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions.Translating dosage compensation to trisomy 21Brain phenotype of transgenic mice overexpressing cystathionine β-synthase.Dosage compensation and the global re-balancing of aneuploid genomes.Interaction study of the male specific lethal (MSL) complex and trans-acting dosage effects in metafemales of Drosophila melanogaster.Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service.Phenotypic impact of genomic structural variation: insights from and for human disease.Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.Genome-wide expression analysis in Down syndrome: insight into immunodeficiency.Genome-wide miR-155 and miR-802 target gene identification in the hippocampus of Ts65Dn Down syndrome mouse model by miRNA spongesMassively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.Down syndrome--recent progress and future prospects.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Expression signature as a biomarker for prenatal diagnosis of trisomy 21.Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genes.Sprouty gene dosage influences temporal-spatial dynamics of primary enamel knot formationmiRNA-155 upregulation and complement factor H deficits in Down's syndrome.
P2860
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P2860
Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Classification of human chromo ...... : impact on disease phenotypes
@ast
Classification of human chromo ...... : impact on disease phenotypes
@en
type
label
Classification of human chromo ...... : impact on disease phenotypes
@ast
Classification of human chromo ...... : impact on disease phenotypes
@en
prefLabel
Classification of human chromo ...... : impact on disease phenotypes
@ast
Classification of human chromo ...... : impact on disease phenotypes
@en
P2093
P2860
P356
P1476
Classification of human chromo ...... : impact on disease phenotypes
@en
P2093
Aït Yahya-Graison E
Dauphinot L
Delabar JM
Personnaz L
P2860
P304
P356
10.1086/520000
P407
P577
2007-07-19T00:00:00Z