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):-1.7031384
Number 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):1.5146666
Number 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):1.4576063
Number 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):1.3564196
Number 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):1.3487291
Number 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):1.2526007
Number 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):1.247798
Number 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):1.2211752
Number 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):1.2037048
Number 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):-1.1957064
Number 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.