TOP TEN perturbations for 40014_at (Homo sapiens)
Organism: Homo sapiens
Gene: 40014_at
Selected probe(set): 208100_x_at
Platform: Affymetrix Human Genome U133 Plus 2.0 Array
Expression of 40014_at (208100_x_at) across 6672 perturbations tested by GENEVESTIGATOR:
dysferlinopathy study 2 (LGMD2B; severe) / normal vastus lateralis tissue
Relative Expression (log2-ratio):-1.7031384Number of Samples:2 / 6
| Experimental | dysferlinopathy study 2 (LGMD2B; severe) |
| Biopsies of vastus lateralis muscle from male patients with limb-girdle muscular dystrophy 2B (LGMD2B) and severe fibrotic replacement. All subjects showed evidence of a dystrophic process (degeneration/regeneration of muscle fibers) and dysferlin mutation. | |
| Control | normal vastus lateralis tissue |
| Biopsies of vastus lateralis muscle from young adult volunteers. Samples were taken as normal controls from baseline samples of exercise experiments. |
colorectal adenoma study 2 / normal colon tissue
Relative Expression (log2-ratio):1.5146666Number of Samples:5 / 6
| Experimental | colorectal adenoma study 2 |
| Laser microdissected human adenoma sample. | |
| Control | normal colon tissue |
| Laser microdissected human colonic epithelial cells sample. |
myotonic dystrophy study 4 (skeletal muscle; DM1) / normal skeletal muscle tisuue (fetal)
Relative Expression (log2-ratio):1.4576063Number of Samples:5 / 3
| Experimental | myotonic dystrophy study 4 (skeletal muscle; DM1) |
| Unspecified skeletal muscle biopsies obtained from patients with myotonic dystrophy type 1 (DM1). | |
| Control | normal skeletal muscle tisuue (fetal) |
| Commercially purchased normal fetal skeletal muscle tissue samples. |
pediatric septic shock study 3 (infant; subclass A) / pediatric septic shock study 3 (infant)
Relative Expression (log2-ratio):1.3564196Number of Samples:8 / 30
| Experimental | pediatric septic shock study 3 (infant; subclass A) |
| Whole blood samples obtained from infants (1 month – 1 year) with septic shock subclass A. The samples were obtained within 24 hours of admission to the pediatric intensive care unit. Two children did not survive. The subclass A was defined based on an empiric, discovery oriented expression filter and unsupervised hierarchical clustering. Patients in subclass A (when all age groups were pooled) had a significantly higher illness severity level (PRISM III score = 20.5, intra-quartile range (IQR) 12.5 – 32.5), a greater degree of organ failure – maximum number of organ failures 3 (IQR 3 - 4), and a higher mortality rate, a significantly higher incidence of documented Gram-positive bacterial infection and were significantly younger compared with other subclasses. | |
| Control | pediatric septic shock study 3 (infant) |
| Whole blood obtained from infants (1 month – 1 year) with septic shock. The samples were obtained within 24 hours of admission to the pediatric intensive care unit (day 1). Five children did not survive. |
male infertility study 1 (juvenile; Ad-) / normal testicular lobules tissue (mJS10)
Relative Expression (log2-ratio):1.3487291Number of Samples:2 / 8
| Experimental | male infertility study 1 (juvenile; Ad-) |
| Human testicular lobules biopsy samples isolated from prepubescent patients with undescended testes. Testes of these children contained very low level of A-dark (Ad-) spermatogonial cells. | |
| Control | normal testicular lobules tissue (mJS10) |
| Biopsies of human testicular lobules isolated from fertile vasectomized adult men with normal spermatogenesis. Histological analysis classified samples as mJS10 (modified Johnsen score 10). |
pediatric septic shock study 3 (toddler; subclass A) / pediatric septic shock study 3 (toddler)
Relative Expression (log2-ratio):1.2526007Number of Samples:4 / 23
| Experimental | pediatric septic shock study 3 (toddler; subclass A) |
| Whole blood samples obtained from toddlers (2 – 5 years) with septic shock subclass A. The samples were obtained within 24 hours of admission to the pediatric intensive care unit. One child did not survive. The subclass A was defined based on an empiric, discovery oriented expression filter and unsupervised hierarchical clustering. Patients in subclass A (when all age groups were pooled) had a significantly higher illness severity level (PRISM III score = 20.5, intra-quartile range (IQR) 12.5 – 32.5), a greater degree of organ failure – maximum number of organ failures 3 (IQR 3 - 4), and a higher mortality rate, a significantly higher incidence of documented Gram-positive bacterial infection and were significantly younger compared with other subclasses. | |
| Control | pediatric septic shock study 3 (toddler) |
| Whole blood obtained from toddlers (2 – 5 years) with septic shock. The samples were obtained within 24 hours of admission to the pediatric intensive care unit (day 1). Two children did not survive. |
myotonic dystrophy study 4 (skeletal muscle; DM2) / normal skeletal muscle tisuue (fetal)
Relative Expression (log2-ratio):1.247798Number of Samples:8 / 3
| Experimental | myotonic dystrophy study 4 (skeletal muscle; DM2) |
| Unspecified skeletal muscle biopsies obtained from patients with myotonic dystrophy type 2 (DM2). | |
| Control | normal skeletal muscle tisuue (fetal) |
| Commercially purchased normal fetal skeletal muscle tissue samples. |
stem cell differentiation study 50 (IRF6 shRNA; ASC; proerythroblast) / stem cell differentiation study 50 (mock shRNA; ASC; proerythroblast)
Relative Expression (log2-ratio):1.2211752Number of Samples:3 / 4
| Experimental | stem cell differentiation study 50 (IRF6 shRNA; ASC; proerythroblast) |
| Proerythroblast differentiated from IRF6 (interferon regulatory factor 6) shRNA transduced hematopoietic stem/progenitor cells (CD34+). CD34+ hematopoietic stem/progenitor cells (HSC) were transduced with lentivirus expressing shRNA targeting IRF6 gene with following differentiation to the erythroid lineage. HSCs were obtained from magnetically sorted G-CSF mobilized peripheral blood mononuclear cells of healthy donors. Cells were expanded in StemSpan SFEM medium supplied with Flt-3 ligand (100 ng/ml), SCF (100 ng/ml), IL-3 (20 ng/ml), IL-6 (20 ng/ml) and penicillin/streptomycin. Cells were harvested for total RNA extraction at the proerythroblast stage of differentiation. | |
| Control | stem cell differentiation study 50 (mock shRNA; ASC; proerythroblast) |
| Proerythroblast differentiated from control shRNA transduced hematopoietic stem/progenitor cells (CD34+). CD34+ hematopoietic stem/progenitor cells (HSC) were transduced with lentivirus expressing control shRNA with following differentiation to the erythroid lineage. HSCs were obtained from magnetically sorted G-CSF mobilized peripheral blood mononuclear cells of healthy donors. Cells were expanded in StemSpan SFEM medium supplied with Flt-3 ligand (100 ng/ml), SCF (100 ng/ml), IL-3 (20 ng/ml), IL-6 (20 ng/ml) and penicillin/streptomycin. Cells were harvested for total RNA extraction at the proerythroblast stage of differentiation. |
myotonic dystrophy study 4 (biceps brachii; DM-like) / normal skeletal muscle tisuue (fetal)
Relative Expression (log2-ratio):1.2037048Number of Samples:9 / 3
| Experimental | myotonic dystrophy study 4 (biceps brachii; DM-like) |
| Biceps brachii biopsies obtained from patients with myotonic-like dystrophy (DMx; DM-like; no DMPK or ZNF9 expansion). | |
| Control | normal skeletal muscle tisuue (fetal) |
| Commercially purchased normal fetal skeletal muscle tissue samples. |
expO kidney cancer study 1 (renal cell carcinoma, sarcomatoid; primary) / expO kidney cancer study 1 (neoplasm, malignant; primary)
Relative Expression (log2-ratio):-1.1957064Number of Samples:3 / 2
| Experimental | expO kidney cancer study 1 (renal cell carcinoma, sarcomatoid; primary) |
| Primary tumor tissue samples obtained from the kidney of patients with renal cell carcinoma, sarcomatoid. | |
| Control | expO kidney cancer study 1 (neoplasm, malignant; primary) |
| Primary tumor tissue samples obtained from the kidney of patients with malignant neoplasm. |