17 research outputs found
Transcriptome signature of heart defects.
<p>Comparison of ratios for DE genes up- or down-regulated in the AVSD or ASD+VSD group between (1) array ratio in the Ts21 CHD<sup>â</sup> vs 2N, (2) array ratio in CHD<sup>+</sup> vs CHD<sup>â</sup>, (3) q-PCR ratio from different experiments in CHD<sup>+</sup> vs CHD<sup>â</sup> using additional samples (total number in parentheses). Gene nomenclature, <i>AUTS2</i>: autism susceptibility candidate 2; <i>CNN2</i>: calponin 2; <i>DSCR3</i>: Down syndrome critical region gene 3; <i>DYNLT3</i>: dynein, light chain, Tctex-type 3; <i>NQO1</i>: NAD(P)H dehydrogenase, quinone 1; <i>OFD1</i>: oral-facial-digital syndrome 1; <i>PDIA4</i>: protein disulfide isomerase family A, member 4; <i>PIGP</i>: phosphatidylinositol glycan anchor biosynthesis, class P; <i>TTC3</i>: tetratricopeptide repeat domain 3; <i>TUBB2B</i>: tubulin, beta 2B; <i>ACTG1</i>: actin, gamma 1; <i>ALDOC</i>: aldolase C, fructose-bisphosphate; <i>CACYBP</i>: calcyclin binding protein; <i>DTYMK</i>: deoxythymidylate kinase (thymidylate kinase); <i>ENO2</i>: enolase 2 (gamma, neuronal); <i>GART</i>: phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase; <i>IFNAR1</i>: interferon (alpha, beta, and omega) receptor 1; <i>PLTP</i>: phospholipid transfer protein; <i>RPL10A</i>: ribosomal protein L10a; <i>TNFAIP2</i>: tumor necrosis factor, alpha-induced protein 2.</p
Principal component analysis of gene expression profiles of LCLs from individuals with DS and with CHD: red- AVSD (nâ=â7); green- ASD (nâ=â8); blue- VSD (nâ=â6).
<p>Red circle indicates AVSD, blue circle indicates ASD and VSD.</p
GO categories in the CDH<sup>+</sup> DE genes.
<p>Analysis of the enrichment of GO categories for the genes DE in the comparison between AVSD or ASD+VSD set of genes and CHD<sup>â</sup> set of genes compared to the genes expressed in LCLs. Analysis used GOrilla software with a p-value threshold at 10<sup>â3</sup>. N - is the total number of genes, B - is the total number of genes associated with a specific null, n - is the number of genes in the group with heart defect, b - is the number of genes in the intersection.</p
Classification of heart defects (CHD+) according to the distribution frequency of their p-values.
<p>Empirical cumulative distributions of p-values for the 2-by-2 Student tests A: AVSD/ASD; B: AVSD/VSD; C: ASD/VSD. Comparisons were obtained for 11 224 tests. The comparison to the uniform distribution shows that there is no overall differential expression between ASD and VSD (less small p-values than for an uniform distribution). Cdf: cumulative distribution function.</p
Eye-tracking expected profiles for the matrix-based and the response-based strategies.
<p>Eye-tracking expected profiles for the matrix-based and the response-based strategies.</p
Comparison between each group of patients and the respective CA HC and MA HC group for the behavioral data.
<p>Comparison between each group of patients and the respective CA HC and MA HC group for the behavioral data.</p
ER for each run in Adult healthy controls, DS and FraX patients.
<p>ER for each run in Adult healthy controls, DS and FraX patients.</p
Characteristics of the patients and healthy controls included in Study 1 and 2.
<p>Characteristics of the patients and healthy controls included in Study 1 and 2.</p
Analysis of the latency (ms) of the first transition between the matrix and the responses for each of the 5 conditions in DS, Fra X, and for both CA HC and MA HC.
<p>(For display purposes and because the different chronological age-matched and mental age-matched control groups did not respectively differ significantly one from the other, the results of only one chronological age-matched control group and one mental age-matched control group are displayed).</p
Comparison between each group of patients and the respective CA HC and MA HC group for the eye-tracking data.
<p>Comparison between each group of patients and the respective CA HC and MA HC group for the eye-tracking data.</p