TOP TEN perturbations for 38845_at (Homo sapiens)

Organism: Homo sapiens
Gene: 38845_at
Selected probe(set): 202590_s_at
Platform: Affymetrix Human Genome U133 Plus 2.0 Array

Expression of 38845_at (202590_s_at) across 6674 perturbations tested by GENEVESTIGATOR:

dysferlinopathy study 2 (LGMD2B; severe) / normal vastus lateralis tissue

Relative Expression (log2-ratio):-2.148921
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.

male infertility study 1 (juvenile; Ad-) / normal testicular lobules tissue (mJS10)

Relative Expression (log2-ratio):2.1078405
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).

brefeldin A study 1 (0.5ug/ml; HCT 116 DICER1(-/-)) / untreated HCT 116 DICER1(-/-) cell sample

Relative Expression (log2-ratio):-2.0134869
Number of Samples:3 / 3
Experimental brefeldin A study 1 (0.5ug/ml; HCT 116 DICER1(-/-))
Derived human colon carcinoma cell line HCT 116 DICER1(-/-) with knockout DICER gene in exon 5 was treated with 0.5 ug/ml brefeldin-A for 24 hours in McCOYs 5A medium supplemented with 10% heat inactivated FBS. ATC code:---
Control untreated HCT 116 DICER1(-/-) cell sample
Derived human colon carcinoma cell line HCT 116 DICER1(-/-) with knockout DICER gene in exon 5 by was grown in McCOYs 5A medium supplemented with 10% heat inactivated FBS.

male infertility study 1 (juvenile; Ad+) / normal testicular lobules tissue (mJS10)

Relative Expression (log2-ratio):1.8706789
Number of Samples:5 / 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 typical 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).

brefeldin A study 1 (0.5ug/ml; p53HCT116) / untreated p53HCT116 cell sample

Relative Expression (log2-ratio):-1.8688736
Number of Samples:2 / 3
Experimental brefeldin A study 1 (0.5ug/ml; p53HCT116)
Derived human colon carcinoma cell line p53HCT116 with knockout gene for p53 was treated with 0.5 ug/ml brefeldin-A for 24 hours in McCOYs 5A medium supplemented with 10% heat inactivated FBS. ATC code:---
Control untreated p53HCT116 cell sample
Derived human colon carcinoma cell line p53HCT116 with knockout gene for p53 was grown in McCOYs 5A medium supplemented with 10% heat inactivated FBS.

uterine/pelvic pathology study 2 (pro. MCP) / uterine/pelvic pathology study 2 (late se MCP)

Relative Expression (log2-ratio):1.7585287
Number of Samples:15 / 2
Experimental uterine/pelvic pathology study 2 (pro. MCP)
Endometrial tissue samples collected from women with uterine/pelvic pathology in the proliferative menstrual cycle phase (MCP). The group contained cycling women 20 – 50 years old with symptomatic uterine fibroids, pelvic organ prolapse, and adenomyosis. The MCP was determined by endometrial histology, confirmed by estradiol and progesterone serum levels and corroborated by 2 independent bioinformatics methods: clustering in unsupervised whole-transcriptome principal component analysis and cycle phase assignment classifier analysis. Patients with hormonal treatment within previous 3 months and presence of malignancy or major systemic disease were excluded.
Control uterine/pelvic pathology study 2 (late se MCP)
Endometrial tissue samples collected from women with uterine/pelvic pathology in the late secretory menstrual cycle phase (MCP). The group contained cycling women 20 – 50 years old with symptomatic uterine fibroids, pelvic organ prolapse, and adenomyosis. The MCP was determined by endometrial histology, confirmed by estradiol and progesterone serum levels and corroborated by 2 independent bioinformatics methods: clustering in unsupervised whole-transcriptome principal component analysis and cycle phase assignment classifier analysis. Patients with hormonal treatment within previous 3 months and presence of malignancy or major systemic disease were excluded.

brefeldin A study 1 (0.5ug/ml; HCT 116) / untreated HCT 116 cell sample

Relative Expression (log2-ratio):-1.7205877
Number of Samples:3 / 3
Experimental brefeldin A study 1 (0.5ug/ml; HCT 116)
Human colon carcinoma cell line HCT116 was treated with 0.5 ug/ml brefeldin-A for 24 hours in McCOYs 5A medium supplemented with 10% heat inactivated FBS. ATC code:---
Control untreated HCT 116 cell sample
Human colon carcinoma cell line HCT116 was grown in McCOYs 5A medium supplemented with 10% heat inactivated FBS.

diphenylcyclopropenone study 1 (late) / diphenylcyclopropenone study 1 (early)

Relative Expression (log2-ratio):1.6998949
Number of Samples:6 / 10
Experimental diphenylcyclopropenone study 1 (late)
Skin biopsy samples of healthy volunteers exposed to diphenylcyclopropenone (diphencyprone; DPCP) for 4 to 8 months. ATC code:---
Control diphenylcyclopropenone study 1 (early)
Skin biopsy samples of healthy volunteers exposed to diphenylcyclopropenone (diphencyprone; DPCP) for 3 days. ATC code:---

myotonic dystrophy study 4 (biceps brachii; DM-like) / normal skeletal muscle tisuue (fetal)

Relative Expression (log2-ratio):1.6988935
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.

diphenylcyclopropenone study 1 (early) / placebo treated skin tissue

Relative Expression (log2-ratio):-1.6823406
Number of Samples:10 / 11
Experimental diphenylcyclopropenone study 1 (early)
Skin biopsy samples of healthy volunteers exposed to diphenylcyclopropenone (diphencyprone; DPCP) for 3 days. ATC code:---
Control placebo treated skin tissue
Skin biopsy samples of healthy volunteers exposed to placebo for 3 days.