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Haploinsufficiency: Disease Bioinformatics

Research of Haploinsufficiency has been linked to Neoplasms, Malignant Neoplasms, Congenital Abnormality, Cell Transformation, Neoplastic, Dwarfism. The study of Haploinsufficiency has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Haploinsufficiency include Pathogenesis, Cell Proliferation, Localization, Cell Cycle, Secretion. These pathways complement our catalog of research reagents for the study of Haploinsufficiency including antibodies and ELISA kits against GRN, TP53, ELN, SHOX, ENG.

Haploinsufficiency Bioinformatics Tool

Laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on co-citations. Explore more on Haploinsufficiency below! For more information on how to use Laverne, please read the How to Guide.
Vizit™, under license from BioVista Inc.

Top Research Reagents

We have 2042 products for the study of Haploinsufficiency that can be applied to Western Blot, Chromatin Immunoprecipitation, Immunocytochemistry/Immunofluorescence, Flow Cytometry, Immunohistochemistry, Chromatin Immunoprecipitation (ChIP) from our catalog of antibodies and ELISA kits.

AF2557
Western blot shows lysates of mouse uterus tissue and J774A.1 mouse reticulum cell sarcoma macrophage cell line. PVDF membrane was probed with 0.5 µg/mL of Sheep Anti-Mouse Progranulin/PGRN Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2557) followed by HRP-conjugated Anti-Sheep IgG Secondary Antibody (Catalog # <A class=NoLineLink href=Progranulin was detected in immersion fixed frozen sections of mouse kidney using Sheep Anti-Mouse Progranulin Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2557) at 15 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Sheep HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

Sheep Polyclonal
Species Mouse
Applications WB, IHC, ICC

     3 Reviews

15 Publications
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] - HeLa cells were fixed for 10 minutes using 10% formalin and then permeabilized for 5 minutes using 1X TBS + 0.5% Triton X-100. The cells were incubated with anti-p53 (PAb 240) [NB200-103] at a 1:200 dilution overnight at 4C and detected with an anti-mouse DyLight 488 (Green) at a 1:500 dilution. Actin was detected with Phalloidin 568 (Red) at a 1:200 dilution. 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

22 Publications
NB100-2076
Western Blot: Elastin Antibody (BA-4) [NB100-2076] - Analysis of tropoelastin using the mAb BA-4 elastin antibody (NB100-2076). A: Western blot of tropoelastin purified from bovine ligamentum nuchae tissue minces. B: Autoradiogram of a gradient SDS-polyacrylamide gel showing [3H] leucine-labeled tropoelasti.Immunohistochemistry-Paraffin: Elastin Antibody (BA-4) [NB100-2076] - Formalin fixed paraffin embedded human kidney stained with Elastin antibody.

Mouse Monoclonal
Species Human, Porcine, Canine
Applications WB, IHC, IHC-Fr

     2 Reviews

3 Publications
NBP2-55181
Immunocytochemistry/Immunofluorescence: SHOX Antibody [NBP2-55181] - Staining of human cell line BJ shows localization to nucleoplasm & vesicles.

Rabbit Polyclonal
Species Human
Applications ICC/IF

AF1320
Endoglin/CD105 was detected in immersion fixed frozen sections of mouse embryo (E13-15) using Goat Anti-Mouse Endoglin/CD105 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1320) 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=NoLineLink href=Endoglin/CD105 was detected in immersion fixed MS-1 mouse pancreatic islet endothelial cell line using Goat Anti-Mouse Endoglin/CD105 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1320) at 10 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Goat IgG Secondary Antibody (yellow; Catalog # <A class=NoLineLink href=

Goat Polyclonal
Species Mouse
Applications WB, Simple Western, Flow

     3 Reviews

14 Publications
NB300-155
Western Blot: Neurofibromin 1 Antibody [NB300-155] - Western Blot of (A, B, C above).Immunohistochemistry: Neurofibromin 1 Antibody [NB300-155] - NF1 protein labeling displays positive signal in the maturing and the hypertrophic cartilages but only faint labeling in the proliferative cartilage.

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

4 Publications
NBP2-46076
Western Blot: TBX1 Antibody (1C2) [NBP2-46076] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY TBX1.Immunohistochemistry: TBX1 Antibody (1C2) [NBP2-46076] - Analysis of Human lymph node tissue. (Heat-induced epitope retrieval by 1 mM EDTA in 10mM Tris, pH8.5, 120C for 3min)

Mouse monoclonal
Species Human
Applications WB, IHC

NBP1-77461
Immunocytochemistry/Immunofluorescence: RUNX2/CBFA1 Antibody [NBP1-77461] - RUNX2 antibody was tested in HeLa cells with FITC (green). Nuclei and alpha-tubulin were counterstained with DAPI (blue) and DyLight 550 (red).Immunohistochemistry: RUNX2/CBFA1 Antibody [NBP1-77461] - Staining of RUNX2 in mouse prostate using DAB with hematoxylin counterstain.

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

7 Publications
NBP1-89105
Immunocytochemistry/Immunofluorescence: RUNX1/CBFA2 Antibody [NBP1-89105] - Staining human cell line A-431 shows localization to nucleoplasm & vesicles. Antibody staining is shown in green.Immunohistochemistry-Paraffin: RUNX1/CBFA2 Antibody [NBP1-89105] - Staining of human bone marrow shows high expression.

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

     1 Review

1 Publication
NB300-750
Western Blot: Pax6 Antibody [NB300-750] - Analysis of sheep retinal extractImmunocytochemistry: Pax6 Antibody [NB300-750] - ARPE-19 monolayer on glass substrate. Fixative Methanol Blocking Goat Serum. Dilution 1:100. Incubation 1h @ RT. This image was submitted via customer Review.

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

     4 Reviews

4 Publications
NBP1-87769
Western Blot: LIS1 Antibody [NBP1-87769] - Lane 1: Marker  [kDa] 230, 130, 95, 72, 56, 36, 28, 17, 11.  Lane 2: Human cell line RT-4.  Lane 3: Human cell line U-251MG spImmunocytochemistry/Immunofluorescence: LIS1 Antibody [NBP1-87769] - Immunofluorescent staining of human cell line U-251 MG shows localization to centrosome.

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

     2 Reviews

NBP2-34260
Immunohistochemistry-Paraffin: Insulin Antibody (E2-E3 (same as INS04)) [NBP2-34260] - Insulin E2E3, human pancreas (FFPE), HIER pH 9 antigen retrieval. Image from verified customer review.Immunohistochemistry-Paraffin: Insulin Antibody (E2-E3 (same as INS04)) [NBP2-34260] - Formalin-fixed, paraffin-embedded human pancreas stained with insulin Monoclonal Antibody (E2-E3)

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

     5 Reviews

NB200-106
Western Blot: p19ARF Antibody [NB200-106] - Analysis of p19ARF in 1. NIH/3T3 and B. MEF cell lysate.Immunocytochemistry/Immunofluorescence: p19ARF Antibody [NB200-106] - Adult mouse kidney (glomerulus). Image from verified customer review.

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

     1 Review

41 Publications
AF847
Western blot shows lysates of mouse and rat brain tissue, A431 human epithelial carcinoma cell line, and MRC-5 human embryonic lung fibroblast cell line. PVDF membrane was probed with 0.1 µg/mL Rabbit Anti-Human/Mouse/Rat PTEN Antigen Affinity-purified Polyclonal Antibody (Catalog # AF847) followed by HRP-conjugated Anti-Rabbit IgG Secondary Antibody (Catalog # <A class=NoLineLink href=PTEN was detected in immersion fixed paraffin-embedded sections of human liver using Rabbit Anti-Human/Mouse/Rat PTEN Antigen Affinity-purified Polyclonal Antibody (Catalog # AF847) at 15 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Rabbit HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <A class=NoLineLink href=

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

     1 Review

5 Publications
1845-SH
1 μg/lane of Recombinant Human Sonic Hedgehog/Shh (C24II), N-Terminus was resolved with SDS-PAGE under reducing (R) conditions and visualized by silver staining, showing a single band at 22 kDa.MALDI-TOF analysis of Recombinant Human Sonic Hedgehog/Shh (C24II), N-Terminus. The major peak corresponds to the calculated molecular mass, 19814 Da. The minor peak at 20029  is a matrix-associated artifact of the MALDI-TOF.


Species Human

     5 Reviews

29 Publications
AF770

Goat Polyclonal
Species Mouse
Applications WB, ELISA(Cap), ELISA(Det)

     1 Review

4 Publications
NBP2-37364
Western Blot: Twist-1 Antibody (10E4E6) [NBP2-37364] - Analysis using TWIST1 mouse mAb against NIH/3T3 (1), JURKAT (2), HELA (3), A549 (4), RAJI (5) and OCM-1 (6) cell lysate.Immunocytochemistry: Twist-1 Antibody (10E4E6) [NBP2-37364] - Analysis of Hela cells using TWIST1 mouse mAb (green). Blue: DRAQ5 fluorescent DNA dye.

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

NBP1-52823
Western Blot: SF-1/NR5A1/Steroidogenic Factor 1 Antibody [NBP1-52823] -  Titration: 0.2-1 ug/ml, Positive Control: THP-1 cell lysate.Immunohistochemistry-Paraffin: SF-1/NR5A1/Steroidogenic Factor 1 Antibody [NBP1-52823] - Human adrenal tissue at an antibody concentration of 4-8ug/ml.

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

2 Publications
MAB97203
    Myoglobin  was detected in immersion fixed paraffin-embedded sections of human heart  using Rabbit Anti-Human Myoglobin Monoclonal Antibody (Catalog # MAB97203) at  3 µg/mL for 1 hour at room temperature followed by  incubation with the Anti-Rabbit IgG VisUCyte™ HRP Polymer Antibody  (Catalog # <a class=    Western  blot shows lysates of human heart tissue, mouse heart tissue, rat heart  tissue, and human liver tissue. PVDF membrane was probed with  0.5 µg/mL of Rabbit Anti-Human Myoglobin Monoclonal Antibody  (Catalog # MAB97203) followed by HRP-conjugated Anti-Rabbit IgG Secondary  Antibody (Catalog # <a class=

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

NBP1-71662
Western Blot: Patched 1/PTCH Antibody [NBP1-71662] -  Analysis of Patched 1 in human skeletal muscle protein.Immunohistochemistry-Paraffin: Patched 1/PTCH Antibody [NBP1-71662] - IHC analysis of formalin fixed paraffin embedded tissue section of mouse lung using 1:50 dilution of PTCH antibody with HRP-DAB detection and hematoxylin counterstaining. The antibody generated a specific membrane-cytoplasmic staining in bronchiolar and alveolar epithelial cells with stronger signal towards the membranes of the cells.

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

3 Publications