TOP TEN perturbations for Q8N7I0 (Homo sapiens)

Organism: Homo sapiens
Gene: Q8N7I0
Selected probe(set): 1564403_at
Platform: Affymetrix Human Genome U133 Plus 2.0 Array

Expression of Q8N7I0 (1564403_at) across 5880 perturbations tested by GENEVESTIGATOR:

multiple sclerosis study 10 (RR-MS) / cerebrospinal fluid cell sample (mixed neuropathologies)

Relative Expression (log2-ratio):1.271554
Number of Samples:5 / 9
Experimental multiple sclerosis study 10 (RR-MS)
Cerebrospinal fluid (CSF) cell samples from patients with relapsing-remitting multiple sclerosis (RR-MS). Active disease was defined by the presence of any of the following criteria during 6 month prior CSF collection: (1) one or more relapses, (2) change of 0.5 point or greater in EDSS (Expanded Disability Status Score), (3) change in the number and size of lesions visualized by gadolinium-enhanced MRI. Untreated MS patients did not receive any medication for at least 1 year before CSF sample collection.
Control cerebrospinal fluid cell sample (mixed neuropathologies)
Cerebrospinal fluid (CSF) cell samples from patients with different neuropathologies, other than multiple sclerosis.

Langerhans cell histiocytosis study 3 / normal tonsillar T-lymphocyte sample

Relative Expression (log2-ratio):-1.0093527
Number of Samples:10 / 4
Experimental Langerhans cell histiocytosis study 3
CD3+ T-lymphocyte samples isolated from Langerhans cell histiocytosis (LCH) lesions in bone (8 cases) or skin (2 cases). Patient with different clinical status were included in this study (unifocal, single system; multifocal, single system and multifocal, multisystem disease).
Control normal tonsillar T-lymphocyte sample
Normal tonsillar CD3+ T-lymphocytes were isolated from children who undergone elective tonsillectomy. The T-cells were isolated from presumably healthy tissue.

GDC-0941 study 1 (IC90) / BEZ235 study 1 (IC90)

Relative Expression (log2-ratio):0.9220848
Number of Samples:4 / 4
Experimental GDC-0941 study 1 (IC90)
A2058 cells treated with GDC-0941 for 24hours at an IC90 concentration. Concentration of IC90 was judged by reduction of pAkt levels (S473P-Akt inhibition) and the value is not clear from the article. Cells were maintained in DMEM, high glucose, 10% FCS, 1% pyruvate, 2% glutamine. GDC-0941 is a potent inhibitor of PI3Kα/δ, alternative names: [pictilisib] ATC code:---
Control BEZ235 study 1 (IC90)
A2058 cells treated with NVP-BEZ235 for 24hours at an IC90 concentration. Concentration of IC90 was judged by reduction of pAkt levels (S473P-Akt inhibition) and the value is not clear from the article. Cells were maintained in DMEM, high glucose, 10% FCS, 1% pyruvate, 2% glutamine. BEZ235 is a mTOR/PI3K inhibitor; alternative names: [NVP-BEZ235] ATC code:---

medulloblastoma study 2 / non-tumor brain tissue

Relative Expression (log2-ratio):-0.9029846
Number of Samples:4 / 9
Experimental medulloblastoma study 2
Primary tumor tissue sample from the infratentorial brain of pediatric patients with large-cell anaplastic medulloblastoma.
Control non-tumor brain tissue
Histologically normal brain tissue at rapid autopsy from patients who died from atypical teratoid/rhabdoid tumor.

Langerhans cell histiocytosis study 3 / Langerhans cell histiocytosis study 4

Relative Expression (log2-ratio):-0.89096165
Number of Samples:10 / 7
Experimental Langerhans cell histiocytosis study 3
CD3+ T-lymphocyte samples isolated from Langerhans cell histiocytosis (LCH) lesions in bone (8 cases) or skin (2 cases). Patient with different clinical status were included in this study (unifocal, single system; multifocal, single system and multifocal, multisystem disease).
Control Langerhans cell histiocytosis study 4
CD3+ T-lymphocyte samples isolated from peripheral blood of patients with Langerhans cell histiocytosis, prior to chemotherapy treatment. Patient with different clinical status were included in this study (unifocal, single system and multifocal, single system disease).

connective/soft tissue cancer study 1 (PDX; connective and soft tissue, pleomorphic rhabdomyosarcoma, adult type; primary) / connective/soft tissue cancer study 1 (PDX; connective and soft tissue, malignant peripheral nerve sheath tumor; primary)

Relative Expression (log2-ratio):0.85252094
Number of Samples:2 / 3
Experimental connective/soft tissue cancer study 1 (PDX; connective and soft tissue, pleomorphic rhabdomyosarcoma, adult type; primary)
Patient-derived xenograft (PDX) samples generated in female athymic nude mice from patients with primary connective and soft tissue, pleomorphic rhabdomyosarcoma, adult type of the soft tissue (subcutaneously implanted).
Control connective/soft tissue cancer study 1 (PDX; connective and soft tissue, malignant peripheral nerve sheath tumor; primary)
Patient-derived xenograft (PDX) samples generated in female athymic nude mice from patients with primary connective and soft tissue, malignant peripheral nerve sheath tumor of the soft tissue (subcutaneously implanted).

dimethyloxalylglycine study 2 (175140ng/ml) / vehicle (DME) treated bronchial epithelial cell sample

Relative Expression (log2-ratio):-0.8270626
Number of Samples:3 / 17
Experimental dimethyloxalylglycine study 2 (175140ng/ml)
Bronchial epithelial cells (NHBE) treated with dimethyloxalylglycine (175140ng/ml; vendor: Cayman Chemical / catalog number: CAYM71210-10 / catalog name: dimethyloxallyl glycine) for 6 hours. For treatment primary cells were seeded at a density of 50'000 cells/well in pre-coated rat tail collagen type I 96-well plates for 24 hours followed by 4 hours starvation. NHBE cells were isolated from different Caucasian, healthy and non-smoker donors from the airway located above the bifurcation of the lungs (tracheal/bronchial). ATC code:---
Control vehicle (DME) treated bronchial epithelial cell sample
Bronchial epithelial cells (NHBE) treated with vehicle (DME) for 6 hours. For treatment primary cells were seeded at a density of 50'000 cells/well in pre-coated rat tail collagen type I 96-well plates for 24 hours followed by 4 hours starvation. NHBE cells were isolated from different Caucasian, healthy and non-smoker donors from the airway located above the bifurcation of the lungs (tracheal/bronchial).

exercise study 33 (YUT; slow twitch; post-exerc.) / exercise study 33 (YUT; slow twitch; pre-exerc.)

Relative Expression (log2-ratio):-0.7698593
Number of Samples:5 / 5
Experimental exercise study 33 (YUT; slow twitch; post-exerc.)
Slow twitch myosin heavy chain muscle fibers (MHC) I were obtained from vastus lateralis muscle. Biopsies were taken from young untrained (YUT) women (23±2 years old) 4 hours after the first resistance exercise. Fibers were separated under the light microscope and MHC isoform was determinated based on SDS-PAGE analysis. Exclusion criteria: acute/chronic illness, cardiac, pulmonary, liver, or kidney abnormalities, uncontrolled hypertension, insulin or non-insulin-dependent diabetes, abnormal blood, or urine chemistries, arthritis, a history of neuromuscular problems, tobacco smoking. Individuals, that had ever completed any formal exercise programs or physical activity outside of their activities of daily living, were excluded as well.
Control exercise study 33 (YUT; slow twitch; pre-exerc.)
Slow twitch myosin heavy chain muscle fibers (MHC) I were obtained from vastus lateralis muscle. Biopsies were taken from young untrained (YUT) women (23±2 years old) before the first exercise. Fibers were separated under the light microscope and MHC isoform was determinated based on SDS-PAGE analysis. Exclusion criteria: acute/chronic illness, cardiac, pulmonary, liver, or kidney abnormalities, uncontrolled hypertension, insulin or non-insulin-dependent diabetes, abnormal blood, or urine chemistries, arthritis, a history of neuromuscular problems, tobacco smoking. Individuals, that had ever completed any formal exercise programs or physical activity outside of their activities of daily living, were excluded as well.

connective/soft tissue cancer study 1 (PDX; connective and soft tissue, malignant peripheral nerve sheath tumor; primary) / connective/soft tissue cancer study 1 (PDX; connective and soft tissue, liposarcoma, well differentiated type; primary)

Relative Expression (log2-ratio):-0.7691698
Number of Samples:3 / 2
Experimental connective/soft tissue cancer study 1 (PDX; connective and soft tissue, malignant peripheral nerve sheath tumor; primary)
Patient-derived xenograft (PDX) samples generated in female athymic nude mice from patients with primary connective and soft tissue, malignant peripheral nerve sheath tumor of the soft tissue (subcutaneously implanted).
Control connective/soft tissue cancer study 1 (PDX; connective and soft tissue, liposarcoma, well differentiated type; primary)
Patient-derived xenograft (PDX) samples generated in female athymic nude mice from patients with primary connective and soft tissue, liposarcoma, well differentiated type of the soft tissue (subcutaneously implanted).

connective/soft tissue cancer study 1 (PDX; connective and soft tissue, pleomorphic rhabdomyosarcoma, adult type; primary) / connective/soft tissue cancer study 1 (PDX; connective and soft tissue, dedifferentiated liposarcoma; primary)

Relative Expression (log2-ratio):0.7522898
Number of Samples:2 / 5
Experimental connective/soft tissue cancer study 1 (PDX; connective and soft tissue, pleomorphic rhabdomyosarcoma, adult type; primary)
Patient-derived xenograft (PDX) samples generated in female athymic nude mice from patients with primary connective and soft tissue, pleomorphic rhabdomyosarcoma, adult type of the soft tissue (subcutaneously implanted).
Control connective/soft tissue cancer study 1 (PDX; connective and soft tissue, dedifferentiated liposarcoma; primary)
Patient-derived xenograft (PDX) samples generated in female athymic nude mice from patients with primary connective and soft tissue, dedifferentiated liposarcoma of the soft tissue (subcutaneously implanted).