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Tuberous Sclerosis: Disease Bioinformatics

Tuberous Sclerosis is a genetic disease in which benign tumors grow in various parts of the body. The severity of the symptoms experienced depends on where the tumors grow. Individuals are usually diagnosed with Tuberous Sclerosis in infancy or early childhood, but those with very mild symptoms may go undiagnosed. Some symptoms include patches of light colored or thickened skin, seizures, developmental delays, communication or learning disabilities, or trouble breathing. Tuberous Sclerosis can be the underlying cause of autism and epilepsy. Tuberous Sclerosis is caused by a mutation in the TSC1 or the TSC2 gene, which normally prevent uncontrolled cell growth. The lesions most commonly grow in the skin, brain, lungs, and kidneys, and if the lesion negatively affects the role of the organ, surgery may be required. There is no cure for Tuberous Sclerosis, but other treatments include medication and educational and occupational therapy.

Top Research Reagents

We have 2998 products for the study of Tuberous Sclerosis that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Ribosomal Protein S6/RPS6 Antibody
NB100-1595
Western Blot: Ribosomal Protein S6/RPS6 Antibody [NB100-1595] - Detection of human and mouse RPS6 by western blot. Samples: Whole cell lysate (50 ug) from HeLa, HEK293T, Jurkat, mouse TCMK-1, and mouse NIH 3T3 cells prepared using NETN lysis buffer. Antibody: Affinity purified rabbit anti-RPS6 antibody NB100-1595 used for WB at 0.04 ug/ml. Detection: Chemiluminescence with an exposure time of 1 second.PreviousImmunohistochemistry-Paraffin: Ribosomal Protein S6/RPS6 Antibody [NB100-1595] - Section of human lung carcinoma. Antibody: Affinity purified rabbit anti-RPS6 (NB100-1595). Detection: DAB

Rabbit Polyclonal
Species Human, Mouse
Applications WB, IHC, IHC-P

     1 Review

6 Publications
Thymidylate Synthase Antibody (HL1236) - Azide and BSA Free
NBP3-25721
Western Blot: Thymidylate Synthase Antibody (HL1236) - Azide and BSA Free [NBP3-25721] - Whole cell extract (30 ug) was separated by 10% SDS-PAGE, and the membrane was blotted with Thymidylate synthase antibody [HL1236] (NBP3-25721) diluted at 1:1000. The HRP-conjugated anti-rabbit IgG antibody was used to detect the primary antibody.Western Blot: Thymidylate Synthase Antibody (HL1236) - Azide and BSA Free [NBP3-25721] - Various whole cell extracts (30 ug) were separated by 10% SDS-PAGE, and the membrane was blotted with Thymidylate synthase antibody [HL1236] (NBP3-25721) diluted at 1:1000. The HRP-conjugated anti-rabbit IgG antibody was used to detect the primary antibody.

Rabbit Monoclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

TOR/mTOR [p Ser2448] Antibody
NB600-607
Western Blot: TOR/mTOR [p Ser2448] Antibody [NB600-607] - Affinity Purified TOR/TOR/mTOR [p Ser2448] antibody is shown to detect a 250 kDa band (indicated) corresponding to phosphorylated human TOR/mTOR present in a 293T whole cell lysates. Cells were serum-starved for 24 hours prior to harvest. ~20 ug of lysate was loaded per lane for SDS-PAGE. Untreated cells are shown in lane 1, whereas cells in lane 2 were treated with IGF-1 (100 ng/ml) for 20 min prior to harvest. Follow reaction of antibody with a 1:2000 dilution of HRP Goat-a-Rabbit IgG for visualization.Immunohistochemistry: TOR/mTOR [p Ser2448] Antibody [NB600-607] - affinity purified TOR/TOR/mTOR [p Ser2448] antibody was used at 5 ug/ml to detect signal in a variety of tissues including multi-human, multi-brain and multi-cancer slides. This image shows moderate staining of proximal convoluted tubules of the kidney (40X). Tissue was formalin-fixed and paraffin embedded. The image shows localization of the antibody as the precipitated red signal, with a hematoxylin purple nuclear counterstain.

Rabbit Polyclonal
Species Human, Rat
Applications WB, ELISA, IHC

     2 Reviews

9 Publications
SLC12A3 Antibody
NBP1-44270
Western Blot: SLC12A3 Antibody [NBP1-44270] - Western blot analysis of Rat tissue lysates showing detection of SLC12A3 protein using Rabbit Anti-SLC12A3 Polyclonal Antibody (NBP1-44270). Primary Antibody: Rabbit Anti-SLC12A3 Polyclonal Antibody (NBP1-44270) at 1:1000.Immunohistochemistry: SLC12A3 Antibody [NBP1-44270] - Immunohistochemistry analysis using Rabbit Anti-SLC12A3 Polyclonal Antibody (NBP1-44270). Tissue: kidney tissue. Species: Rat. Primary Antibody: Rabbit Anti-SLC12A3 Polyclonal Antibody (NBP1-44270) at 1:200. Secondary Antibody: FITC Goat Anti-Rabbit (green).

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, EM, ICC/IF

1 Publication
Tbp7 Antibody
NBP1-87799
Western Blot: Tbp7 Antibody [NBP1-87799] - Western blot analysis in mouse cell line NIH-3T3, rat cell line NBT-II and rat cell line pC12.Immunocytochemistry/Immunofluorescence: Tbp7 Antibody [NBP1-87799] - Staining of human cell line U-251 MG shows localization to nucleoplasm. Antibody staining is shown in green.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

1 Publication
Thromboxane synthase Antibody (OTI2C1)
NBP2-02710
Western Blot: Thromboxane synthase Antibody (2C1) [NBP2-02710] Analysis of extracts (35ug) from 9 different cell lines by using anti-Thromboxane synthase monoclonal antibody.Immunocytochemistry/Immunofluorescence: Thromboxane synthase Antibody (2C1) [NBP2-02710] - Staining of COS7 cells transiently transfected by pCMV6-ENTRY Thromboxane synthase.

Mouse Monoclonal
Species Human, Rat
Applications WB, Flow, ICC/IF

1 Publication
tescalcin Antibody
NBP2-13426
Immunohistochemistry-Paraffin: tescalcin Antibody [NBP2-13426] - Staining in human salivary gland and colon tissues using anti-TESC antibody. Corresponding TESC RNA-seq data are presented for the same tissues.Immunocytochemistry/Immunofluorescence: tescalcin Antibody [NBP2-13426] - Staining of human cell line A549 shows localization to nucleoplasm & cytosol. Antibody staining is shown in green.

Rabbit Polyclonal
Species Human
Applications ICC/IF, IHC, IHC-P

PI 3-Kinase p110 gamma Antibody
NBP2-15071
Western Blot: PI 3-Kinase p110 gamma Antibody [NBP2-15071] - Non-transfected (-) and transfected (+) 293T whole cell extracts (30 ug) were separated by 7.5% SDS-PAGE, and the membrane was blotted with PI3 kinase p110 gamma antibody [C3], C-term diluted at 1:500. The HRP-conjugated anti-rabbit IgG antibody (NBP2-19301) was used to detect the primary antibody.Immunohistochemistry-Paraffin: PI 3-Kinase p110 gamma Antibody [NBP2-15071] - Human Breast Cancer, using PI3K gamma antibody. Antigen Retrieval: Trilogy™ (EDTA based, pH 8.0) buffer, 15min

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

3 Publications
PIK3CA Antibody
NBP2-19804
Western Blot: PIK3CA Antibody [NBP2-19804] - Various whole cell extracts (30 ug) were separated by 5% SDS-PAGE, and the membrane was blotted with PI3 kinase p110 alpha antibody diluted at 1:1000. The HRP-conjugated anti-rabbit IgG antibody (NBP2-19301) was used to detect the primary antibody, and the signal was developed with Trident ECL plus-Enhanced.Immunocytochemistry/Immunofluorescence: PIK3CA Antibody [NBP2-19804] - HCT 116 cells were fixed in 4% paraformaldehyde at RT for 15 min. Green: PI3 kinase p110 alpha protein stained by PI3 kinase p110 alpha antibody diluted at 1:500. Blue: Hoechst 33342 staining.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, ICC/IF, IHC

4 Publications
Rheb Antibody (2C11)
H00006009-M01
Western Blot: Rheb Antibody (2C11) [H00006009-M01] - RHEB monoclonal antibody (M01), clone 2C11. Analysis of RHEB expression in NIH/3T3.Western Blot: Rheb Antibody (2C11) [H00006009-M01] - RHEB monoclonal antibody (M01), clone 2C11. Analysis of RHEB expression in PC-12.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, ELISA, ICC/IF

10 Publications
POMC Antibody
NB100-1533
Immunohistochemistry: POMC Antibody [NB100-1533] - Representative confocal images of POMC in POMC-transfected WT and Sel1L-/- N2a cells. White arrows point to POMC-containing secretory granules, while yellow arrows point to perinuclear POMC. KDEL marks the ER. Representative data from at least 2 independent experiments are shown. Image collected and cropped by CiteAb from the following publication (jci.org/articles/view/96420), licensed under a CC-BY license.Flow Cytometry: POMC Antibody [NB100-1533] - Flow cytometric analysis of paraformaldehyde fixed A431 cells (blue line), permeabilized with 0.5% Triton. Primary incubation 1hr (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (1 ug/mL). IgG control: Unimmunized goat IgG (black line) followed by Alexa Fluor 488 secondary antibody.

Goat Polyclonal
Species Human, Mouse, Rat
Applications WB, Flow, ICC/IF

10 Publications
AKT [p Ser473] Antibody [Unconjugated] - Pan Specific
AF887
Western blot shows lysates of NIH-3T3 mouse embryonic fibroblast cell line untreated (-) or treated (+) with 100 ng/mL Human PDGF (<a class=Akt phosphorylated at S473 was detected in immersion fixed paraffin-embedded sections of human breast cancer tissue using Rabbit Anti-Human/Mouse/Rat Phospho-Akt (S473) Antigen Affinity-purified Polyclonal Antibody (Catalog # AF887) at 10 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Rabbit HRP-DAB Cell & Tissue Staining Kit (brown; <a class=

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, IHC

49 Publications
Insulin Antibody (182410) [Unconjugated]
MAB1417
Insulin was detected in immersion fixed beta TC-6 mouse beta cell insulinoma cell line using Human/Mouse/Bovine Insulin Monoclonal Antibody (Catalog # MAB1417) at 10 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Rat IgG Secondary Antibody (red; Catalog # <a class=Insulin was detected in immersion fixed paraffin-embedded sections of human pancreas using Rat Anti-Human/Mouse/Bovine Insulin Monoclonal Antibody (Catalog # MAB1417) at 0.5 µg/mL for 1 hour at room temperature followed by incubation with the Anti-Rat IgG VisUCyte™ HRP Polymer Antibody (<a class=

Rat Monoclonal
Species Human, Mouse, Bovine
Applications IHC, CyTOF-ready, ICC

24 Publications
TSC2 Antibody (614204) [Unconjugated]
MAB40401
Western blot shows lysates of HEK293 human embryonic kidney cell line, HeLa human cervical epithelial carcinoma cell line, Daudi human Burkitt's lymphoma cell line, and NIH-3T3 mouse embryonic fibroblast cell line. PVDF membrane was probed with 1 µg/mL of Mouse Anti-Human/Mouse TSC2 Monoclonal Antibody (Catalog # MAB40401) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (<a class=TSC2 was detected in immersion fixed HeLa human cervical epithelial carcinoma cell line using Mouse Anti-Human/Mouse TSC2 Monoclonal Antibody (Catalog # MAB40401) at 3 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Mouse IgG Secondary Antibody (red; Catalog # <a class=

Mouse Monoclonal
Species Human, Mouse
Applications WB, IHC, ICC

2 Publications
TSC1 Antibody (OTI3A2)
NBP2-46234
Immunohistochemistry: TSC1 Antibody (3A2) [NBP2-46234] - Analysis of Adenocarcinoma of Human colon tissue. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 120C for 3min)Immunohistochemistry: TSC1 Antibody (3A2) [NBP2-46234] - Analysis of Carcinoma of Human prostate tissue. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 120C for 3min)

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, IHC

PI 3-Kinase p110 delta Antibody (OTI1D11)
NBP2-46404
Immunohistochemistry: PI 3-Kinase p110 delta Antibody (1D11) [NBP2-46404] - Analysis of Carcinoma of Human prostate tissue. (Heat-induced epitope retrieval by 1 mM EDTA in 10mM Tris, pH8.5, 120C for 3min)Immunohistochemistry: PI 3-Kinase p110 delta Antibody (1D11) [NBP2-46404] - Analysis of Human breast tissue. (Heat-induced epitope retrieval by 1 mM EDTA in 10mM Tris, pH8.5, 120C for 3min)

Mouse Monoclonal
Species Human, Mouse, Rat
Applications IHC, IHC-P

     1 Review

Cav1.2 Antibody (S57)
NBP1-22439
Western Blot: Cav1.2 Antibody (S57) [NBP1-22439] - Western Blot analysis of Hamster T-CHO cell lysate showing detection of CaV1.2 Calcium Channel protein using Mouse Anti-CaV1.2 Calcium Channel Monoclonal Antibody, Clone S57 (NBP1-22439). Primary Antibody: Mouse Anti-CaV1.2 Calcium Channel Monoclonal Antibody (NBP1-22439) at 1:1000.Immunocytochemistry/Immunofluorescence: Cav1.2 Antibody (S57) [NBP1-22439] - Immunocytochemistry/Immunofluorescence analysis using Mouse Anti-Cav1.2 Monoclonal Antibody, Clone S57 (NBP1-22439). Tissue: Neuroblastoma cells (SH-SY5Y). Species: Human. Fixation: 4% PFA for 15 min. Primary Antibody: Mouse Anti-Cav1.2 Monoclonal Antibody (NBP1-22439) at 1:50 for overnight at 4C with slow rocking. Secondary Antibody: AlexaFluor 488 at 1:1000 for 1 hour at RT. Counterstain: Phalloidin-iFluor 647 (red) F-Actin stain; Hoechst (blue) nuclear stain at 1:800, 1.6mM for 20 min at RT. (A) Hoechst (blue) nuclear stain. (B) Phalloidin-iFluor 647 (red) F-Actin stain. (C) Cav1.2 Antibody (D) Composite.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

3 Publications
GFAP Antibody
NB300-141
Immunohistochemistry: GFAP Antibody [NB300-141] - Analysis of a rat cerebellum section stained with rabbit polyclonal antibody to GFAP, NB300-141, dilution 1:5000 in green and mouse monoclonal antibody to MeCP2, dilution 1:500, in red. The blue is DAPI staining of nuclear DNA. Following transcardial perfusion of rat with 4% paraformaldehyde, brain was post fixed for 1 hour, cut to 45 uM, and free-floating sections were stained with above antibodies. The GFAP antibody stains the network of astrocytic cells and the processes of Bergmann glia in the molecular layer. The MeCP2 antibody specifically labels nuclei of certain neurons.Immunocytochemistry/Immunofluorescence: GFAP Antibody [NB300-141] - Rat neurons stained with Neurofilament Heavy antibody NB300-217 (red) and GFAP antibody NB300-141 (green).

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, ICC/IF

     12 Reviews

108 Publications
p70 S6 Kinase/S6K [p Thr389/412] Antibody
NB600-1049
Western Blot: p70 S6 Kinase/S6K [p Thr389/412] Antibody [NB600-1049] - Abeta facilitates HIF1alpha synthesis and autophagy inhibition via mTOR activation. Cells were incubated with rapamycin (10 nM) for 30 min prior to Abeta treatment for 24 h. Phosphorylation of 4EBP1 (Thr 37/46) and 4EBP1, phosphorylation of p70S6K1 (Thr 389), HIF1alpha and beta-actin were analyzed by western blot. n = 6. Image collected and cropped by CiteAb from the following publication (https://journal.frontiersin.org/article/10.3389/fnmol.2017.00229/full) licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: p70 S6 Kinase/S6K [p Thr389/412] Antibody [NB600-1049] - Analysis of Phospho-p70 S6 Kinase in 293 cells.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

     1 Review

7 Publications
4EBP1 Antibody
NB200-157
Knockout Validated: 4EBP1 Antibody [NB200-157] - Western blot shows lysates of HeLa human cervical epithelial carcinoma parental cell line and 4EBP1 knockout (KO) HeLa cell line. PVDF membrane was probed with 0.5 ug/ml of Rabbit Anti-Human 4EBP1 Polyclonal Antibody (Catalog # NB200-157) followed by HRP-conjugated Anti-Rabbit IgG Secondary Antibody (Catalog #HAF008). Specific band was detected for 4EBP1 at approximately 17-20 kDa (as indicated) in the parental HeLa cell line, but is not detectable in the knockout HeLa cell line. This experiment was conducted under reducing conditions.Western Blot: 4EBP1 Antibody [NB200-157] - Whole cell lysate (100 ug) from RINm5F insulinoma exposed to high or low concentration of leucine. Antibody used at 0.25 ug/ml.

Rabbit Polyclonal
Species Human
Applications WB, IHC, IHC-P

45 Publications

Related Genes

Tuberous Sclerosis has been researched against:

Related Pathways

Tuberous Sclerosis has been linked to:

Related Diseases

Tuberous Sclerosis has been studied in relation to diseases such as:

Related PTMs

Tuberous Sclerosis has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Tuberous Sclerosis is also known as tuberous sclerosis, tuberous sclerosis complex, bourneville phakomatosis, sclerosis tuberosa, tuberous sclerosis syndrome (disorder), bourneville pringle syndrome, bourneville's disease, tuberous sclerosis 1, bourneville syndrome, tuberous sclerosis-1, phakomatosis ts, tsc1.