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Von Hippel-lindau Syndrome: Disease Bioinformatics

Von Hippel-Lindau syndrome is an autosomal dominant genetic condition that causes tumors, called hemangioblastomas, in the brain, spinal cord, and eye. The syndrome is caused by a mutation in the VHL gene, which usually acts as a tumor suppressor. When the VHL gene is mutated, rapid growth is no longer regulated and tumors therefore begin to grow. Von Hippel-Lindau syndrome also increases the risk of developing a specific type of kidney cancer known as clear cell renal cell carcinoma. Symptoms of Von Hippel-Lindau syndrome include multiple hemangioblastomas or cysts in the brain, spinal cord, eye, or kidney. Genetic testing is used to diagnose individuals with the disease. Surgery and targeted cancer treatment is used to treat kidney cancer. The hemangioblastomas are often benign and therefore only need to be removed if the tumor interferes with the function of the organ. There is no cure for Von Hippel-Lindau syndrome yet, but focus on cancer research can help to uncover a cure.

Top Research Reagents

We have 4301 products for the study of Von Hippel-lindau Syndrome that can be applied to Chromatin Immunoprecipitation, Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

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
Carbonic Anhydrase IX/CA9 Antibody - BSA Free
NB100-417
CA9 expressed in hypoxic regions as assessed by pimonidazole staining (A), but also observed in non-pimonidazole areas (B). Most of CA9 expressed in pimonidazole positive regions (C). Proliferation (BrdUrd) & apoptosis (caspase-3) in relation to CA9 expression shown in figure D & E. Red, CA9; Green, pimonidazole (A-B), BrdUrd (D) or caspase-3 (E); Yellow, overlap of CA9 (red) & pimonidazole (green); Light blue, vessels. Magnification 100x. Scale bars represent 100 um. Closed circles represent CA9 expression in pimonidazole positive regions; open circles represent CA9 expression in pimonidazole -ve regions. Image collected & cropped by CiteAb from the following publication (https://dx.plos.org/10.1371/journal.pone.0108068), licensed under a CC-BY license.Formalin-fixed paraffin-embedded tissue sections of human stomach were probed for Carbonic Anhydrase IX/CA9 mRNA (ACD RNAScope Probe, catalog # 559348; Fast Red chromogen, ACD catalog # 322750). Adjacent tissue section was processed for immunohistochemistry using Rabbit Polyclonal (Novus catalog # NB100-417) at 1:1000 dilution with overnight incubation at 4 degrees Celsius followed by incubation with anti-rabbit IgG VisUCyte HRP Polymer Antibody (Catalog # VC003) and DAB chromogen (yellow-brown). Tissue was counterstained with hematoxylin (blue). Specific staining was localized to glandular cells.

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

     7 Reviews

278 Publications
TRIM50 Antibody
NBP1-81988
Immunohistochemistry-Paraffin: TRIM50 Antibody [NBP1-81988] - Staining of human bone marrow shows strong cytoplasmic positivity in a subset of bone marrow poietic cells.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

p53 Antibody (PAb 240) - BSA Free
NB200-103
Western Blot: p53 Antibody (PAb 240) [NB200-103] - Analysis of p53 in MCF7 and HeLa lystates. Image courtesy of anonymous customer product review.Immunocytochemistry/Immunofluorescence: p53 Antibody (PAb 240) [NB200-103] - PC12 cells were fixed in 4% paraformaldehyde for 10 minutes and permeabilized in 0.5% Triton X-100 in PBS for 5 minutes. The cells were incubated with anti-p53 Antibody (PAb 240) NB200-103 at 2 ug/ml overnight at 4C and detected with an anti-mouse Dylight 488 (Green) at a 1:1000 dilution for 60 minutes. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 40X objective.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, ELISA, Flow

     3 Reviews

42 Publications
SDHB Antibody
NBP1-87069
Western Blot: SDHB Antibody [NBP1-87069] - Analysis in RT-4 cells transfected with control siRNA, target specific siRNA probe #1 and #2, using Anti-SDHB antibody. Remaining relative intensity is presented. Loading control: Anti-PPIB.Immunocytochemistry/Immunofluorescence: SDHB Antibody [NBP1-87069] - Staining of human cell line PC-3 shows localization to nucleoplasm, plasma membrane & mitochondria. Antibody staining is shown in green.

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

16 Publications
XRCC1 Antibody
NBP1-87154
Western Blot: XRCC1 Antibody [NBP1-87154] - Analysis in U2OS cells transfected with control siRNA, target specific siRNA probe #1 and #2,. Remaining relative intensity is presentedWestern Blot: XRCC1 Antibody [NBP1-87154] - Analysis in A-549 cells transfected with control siRNA, target specific siRNA probe #1 and #2. Remaining relative intensity is presented. Loading control: Anti-GAPDH.

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

5 Publications
HIF-1 alpha Antibody (H1alpha67)
NB100-105
HIF-1 alpha induction by CoCl2 on Caki-1 cell lysate. WB image submitted by a verified customer review.HIF-1 alpha was detected in immersion fixed DFO treated Hela cells (left) but was not detected in HIF-1 knockout HeLa cells (right) using Mouse Anti-human HIF-1 alpha monoclonal antibody (Catalog # NB100-105) at 25 ug/mL for 3 hours at room temperature. Cells were stained using a NorthernLights (TM) 557-conjugated Donkey Anti-Mouse IgG Secondary Antibody (red; Catalog # NL007) and counterstained with DAPI (blue). Specific staining was localized to nuclei.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, ChIP

     45 Reviews

1038 Publications
ZNF645 Antibody
NBP2-21037
Western Blot: ZNF645 Antibody [NBP2-21037] - Sample (30 ug of whole cell lysate) A: MCF-7 10% SDS PAGE gel, diluted at 1:500.Immunohistochemistry-Paraffin: ZNF645 Antibody [NBP2-21037] - Immunohistochemical analysis of paraffin-embedded GASTRIC CA, using antibody at 1:500 dilution.

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

MUL1 Antibody (5H6.2D5) - BSA Free
NBP2-31361
Western Blot: MUL1 Antibody (5H6.2D5) [NBP2-31361] - WB detection of partial recombinant protein MUL1 by using MUL1 antibody (clone 5H6.2D5) at a concentration of 0.01 ug/ml.Immunohistochemistry-Paraffin: MUL1 Antibody (5H6.2D5) [NBP2-31361] - IHC-P analysis of MUL1 protein in a transverse section of normal skeletal muscle from human using 5 ug/ml concentration of MUL1 antibody (clone 5H6.2D5). The myocytes and blood capillaries depicted strong staining whereas the nuclei were found negative for MUL1.

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

Ret Antibody [Unconjugated]
AF482
Ret was detected in perfusion fixed frozen sections of mouse spinal cord using Goat Anti-Mouse Ret Antigen Affinity-purified Polyclonal Antibody (Catalog # AF482) at 15 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=ERBB-family signaling molecules in rat testis cells. (a) Polypeptides in the EGF super-family signal by activating ERBB-family transmembrane receptor tyrosine kinases. ERBB1 is a receptor for ‘classical’ low molecular weight EGF-like peptides. ERBB2 is the primary transducer for ligand-bound ERBB1, ERBB3 and ERBB4. ERBB2’s extracellular domain does not bind known ligands. ERBB3 is a receptor for Neuregulin-1 (NRG1), NRG2 and Neuroglycan-C (CSPG5). Ligand bound ERBB3 displays poor kinase activity and signals most effectively as a heteromer with ERBB1, ERBB2 and/or ERBB4. ERBB4 is a receptor for NRG1, NRG2, NRG3 and NRG4 plus other EGF-like peptides*. (b) Western blotting analysis of ERBB-family proteins in fractions of testis cells from 23-day-old rats. Lysates of type A spermatogonia after proliferating for ~180 days/15 passages in culture (SgL), freshly isolated laminin-binding type A spermatogonia (Sg), laminin non-binding spermatogenic cells (Scy), tubular somatic cells (SC), interstitial somatic cells (IC), MCF7 human mammary gland cells (MCF) and COS7 monkey kidney cells (COS). Arrowheads: ERBBs 1–4 (~185 kDa), RET (~155 and 170 kDa) and TUBA1a (~55 kDa). (c) Relative abundance (qtPCR) of ERBB-family transcripts in testis cells isolated from 23-day-old rats (n=cells from three different rats; ±S.E.M.). Spermatogonia (Sg), Spermatocytes (Scy; differentiating spermatogonia/early spermatocytes), Tubular somatic cells (SC) and Interstitial somatic cells (IC) are cell types described in panel (b). (d) Testis cross-section from 26-day-old tgGCS-EGFP transgenic rats labeled with anti-ERBB2 (Red) overlaying EGFP fluorescence from germ cells (green). Note, cytoplasmic ERBB2 labeling in germ cells resembling differentiating spermatogonia (white arrows) and spermatocytes (yellow arrow). Scale, 40 μm. (e) Rat seminiferous tubule whole mount from 24-day-old wild-type rat labeled using antibodies to ERBB2 (Red) and ZBTB16 (Green). Scale, 20 μm. Note: nuclear ZBTB16 labeling is more robust in ERBB2-dim spermatogonia (cyan arrows), compared with ERBB2-bright spermatogenic cells (white arrows). (f) Rat seminiferous tubule whole mount from a 24-day-old wild-type rat labeled with antibodies to ERBB2 (Red) and phospho-Histone-3 (pH3, Green). Scale, 40 μm. Note: nuclear pH3 in large mitotic ERBB2+ syncytia. Image collected and cropped by CiteAb from the following open publication (https://www.nature.com/articles/cddiscovery201518), licensed under a CC-BY license. Not internally tested by R&D Systems.

Goat Polyclonal
Species Mouse
Applications WB, IHC

40 Publications
Erythropoietin/EPO [HRP]
MEP00B
N/A Erythropoietin/EPO [HRP]N/A Erythropoietin/EPO [HRP]


Species Mouse
Applications ELISA

104 Publications
VEGF [HRP]
DVE00
N/A VEGF [HRP]N/A VEGF [HRP]


Species Human
Applications ELISA

676 Publications
Von Hippel Lindau Antibody (OTI1E1)
NBP2-45411
Western Blot: Von Hippel Lindau Antibody (1E1) [NBP2-45411] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY Von Hippel Lindau.Immunohistochemistry: Von Hippel Lindau Antibody (1E1) [NBP2-45411] - Analysis of Adenocarcinoma of Human ovary tissue. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 120C for 3min)

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

SDHC Antibody (3E2)
H00006391-M01
Immunohistochemistry-Paraffin: SDHC Antibody (3E2) [H00006391-M01] - Analysis of monoclonal antibody to SDHC on formalin-fixed paraffin-embedded human skeletal muscle. Antibody concentration 3 ug/ml.Immunohistochemistry-Paraffin: SDHC Antibody (3E2) [H00006391-M01] - Analysis of monoclonal antibody to SDHC on formalin-fixed paraffin-embedded human skeletal muscle. Antibody concentration 3 ug/ml.

Mouse Monoclonal
Species Human
Applications WB, ELISA, IHC

4 Publications
p14ARF/CDKN2A Antibody - BSA Free
NB200-111
Knockdown Validated: p14ARF/CDKN2A Antibody [NB200-111] - Inhibition of AKT decreases p53mut stability. T24 cells were transfected with non-targeting control, AKT1, or p14ARF siRNA. Cells were treated with NCS348884 (4 i1/4M), Nutlin3A (5 i1/4M) or DMSO as indicated. Whole cell lysates were probed with the indicated antibodies. Image collected and cropped by Citeab from the following publication (AKT regulates NPM dependent ARF localization and p53mut stability in tumors. <i>Oncotarget</i> (2014)) licensed under a CC-BY license.Immunohistochemistry: p14ARF/CDKN2A Antibody [NB200-111] - Inhibition of AKT modulates p53 stability in-vivo and synergizes with ionizing radiation to inhibit tumor growth( Sections of PSN1 xenografts treated with three consecutive doses of MK-2206 (60 mg/kg). Sections of PSN1 xenografts and in-vitro PSN1 cells fixed and stained with anti-NPM (red) and anti-p14ARF (green). Image collected and cropped by Citeab from the following publication (AKT regulates NPM dependent ARF localization and p53mut stability in tumors. Oncotarget (2014)) licensed under a CC-BY license.

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

     2 Reviews

17 Publications
SDHD Antibody - BSA Free
NBP2-81948
Western Blot: SDHD Antibody [NBP2-81948] - Analysis of SDHD in EL4 cell lysate with SDHD antibody at (A) 1 and (B) 2 ug/ml.Immunocytochemistry/Immunofluorescence: SDHD Antibody [NBP2-81948] - Analysis of SDHD in EL4 cells with SDHD antibody at 20 ug/ml.

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

HYPB Antibody - Azide and BSA Free
NBP3-03807
Immunocytochemistry/Immunofluorescence: HYPB Antibody [NBP3-03807] - Analysis of U-2 OS cells using HYPB antibody at dilution of 1:100 (40x lens). Blue: DAPI for nuclear staining.Immunocytochemistry/Immunofluorescence: HYPB Antibody [NBP3-03807] - Analysis of C6 cells using HYPB antibody at dilution of 1:100 (40x lens). Blue: DAPI for nuclear staining.

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

HIF-2 alpha/EPAS1 Antibody - BSA Free
NB100-122
WNT11 is induced by hypoxia or hypoxic mimetics in different cell types. Immunoblot analyses of HeLa cells under normal air or hypoxia for 24 hrs. Image collected and cropped by CiteAb from the following publication (https://www.nature.com/articles/srep21520) licensed under a CC-BY license.HIF-1alpha is the predominant transcriptional regulator of WNT11 expression during hypoxia. EMSCs isolated from the indicated mouse genotypes were infected with lentivirus expressing GFP or Cre recombinase. Non-infected cells and GFP infected cells served as controls. Immunoblot analyses of EMSCs derived from the indicated genotypes treated with 0.1 mM DMOG for 24 hrs. Attenuated WNT11 expression in Hif-1alpha KO EMSCs (lenti-Cre infected Hif-1af/f). Image collected and cropped by CiteAb from the following publication (https://www.nature.com/articles/srep21520) licensed under a CC-BY license.

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

     37 Reviews

822 Publications

Related Genes

Von Hippel-lindau Syndrome has been researched against:

Related Pathways

Von Hippel-lindau Syndrome has been linked to:

Related Diseases

Von Hippel-lindau Syndrome has been studied in relation to diseases such as:

Related PTMs

Von Hippel-lindau Syndrome has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Von Hippel-lindau Syndrome is also known as Cerebroretinal Angiomatosis, Hippel Lindau Disease, Hippel Lindau Syndrome, Hippel-lindau Disease, Lindau Disease.