Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
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Altered DNA methylation in leukocytes with trisomy 21Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defectsTrisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteinsDYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down SyndromeThe importance of understanding individual differences in Down syndromeConcise Review: Methods and Cell Types Used to Generate Down Syndrome Induced Pluripotent Stem CellsTrisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomesReply to Westaway et al.: Mandibular misrepresentations fail to support the invalid species Homo floresiensisEvolved developmental homeostasis disturbed in LB1 from Flores, Indonesia, denotes Down syndrome and not diagnostic traits of the invalid species Homo floresiensisEchocardiography 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.Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development.A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes.Accurate distinction of pathogenic from benign CNVs in mental retardation.Meiotic behavior of aneuploid chromatin in mouse models of Down syndrome.Interindividual variability in the cardiac expression of anthracycline reductases in donors with and without Down syndrome.Ohnologs in the human genome are dosage balanced and frequently associated with disease.Translating dosage compensation to trisomy 21Brain phenotype of transgenic mice overexpressing cystathionine β-synthase.Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.Extensive natural variation for cellular hydrogen peroxide release is genetically controlled.Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome.Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.Genome-wide expression analysis in Down syndrome: insight into immunodeficiency.Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype.Combined fluorescent-chromogenic in situ hybridization for identification and laser microdissection of interphase chromosomes.Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.Educational paper: syndromic forms of primary immunodeficiencyDown syndrome--recent progress and future prospects.Expression signature as a biomarker for prenatal diagnosis of trisomy 21.Integrated differential transcriptome maps of Acute Megakaryoblastic Leukemia (AMKL) in children with or without Down Syndrome (DS)Analysis of mtDNA, miR-155 and BACH1 expression in hearts from donors with and without Down syndrome.Dosage compensation can buffer copy-number variation in wild yeastmiRNA-155 upregulation and complement factor H deficits in Down's syndrome."Down syndrome: an insight of the disease"DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsIdentification of Inverse Regulator-a (Inr-a) as Synonymous with Pre-mRNA Cleavage Complex II Protein (Pcf11) in DrosophilaMolecular and cellular alterations in Down syndrome: toward the identification of targets for therapeutics
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P2860
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
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
Natural gene-expression variat ...... tcome of gene-dosage imbalance
@ast
Natural gene-expression variat ...... tcome of gene-dosage imbalance
@en
type
label
Natural gene-expression variat ...... tcome of gene-dosage imbalance
@ast
Natural gene-expression variat ...... tcome of gene-dosage imbalance
@en
prefLabel
Natural gene-expression variat ...... tcome of gene-dosage imbalance
@ast
Natural gene-expression variat ...... tcome of gene-dosage imbalance
@en
P2093
P2860
P4510
P50
P356
P1476
Natural gene-expression variat ...... tcome of gene-dosage imbalance
@en
P2093
Celine Delucinge Vivier
Chiara Baldo
Corinne Gehrig
Franca Dagna Bricarelli
Maryline Gagnebin
Mauro Delorenzi
Paola Prandini
Patrick Descombes
Robert Lyle
Samuel Deutsch
P2860
P304
P356
10.1086/519248
P407
P577
2007-06-20T00:00:00Z