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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 2197 products for the study of Haploinsufficiency that can be applied to Western Blot, Chromatin Immunoprecipitation, Flow Cytometry, Immunocytochemistry/Immunofluorescence, Immunohistochemistry, Chromatin Immunoprecipitation (ChIP) from our catalog of antibodies and ELISA kits.

Progranulin/PGRN Antibody [Unconjugated]
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/PGRN was detected in immersion fixed mouse splenocytes using Sheep Anti-Mouse Progranulin/PGRN Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2557) at 5 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Sheep IgG Secondary Antibody (red; Catalog # <a class=

Sheep Polyclonal
Species Mouse
Applications WB, IHC, ICC

     1 Review

21 Publications
p53 Antibody (PAb 240)
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

27 Publications
Elastin Antibody (BA-4)
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] - Presence of ECM proteins collagen, elastin, fibronectin, vitronectin and GAGs following decellularization. Porcine vena cavas were decellularized and analyzed for ECM proteins. Cross-section of paraffin embedded samples were immunostained for collagen type I/III, elastin, fibronectin and vitronectin. Images were taken at identical microscopy settings. Scale bar is 100 um. Image collected and cropped by CiteAb from the following publication (http://dx.plos.org/10.1371/journal.pone.0220743), licensed under a CC-BY licence.

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

     2 Reviews

4 Publications
SHOX Antibody
H00006473-B01P
Western Blot: SHOX Antibody [H00006473-B01P] - Analysis of SHOX expression in human liver.Western Blot: SHOX Antibody [H00006473-B01P] - Analysis of SHOX expression in transfected 293T cell line by SHOX polyclonal antibody. Lane 1: SHOX transfected lysate(24.75 KDa). Lane 2: Non-transfected lysate.

Mouse Polyclonal
Species Human
Applications WB

Endoglin/CD105 Antibody (3A9)
NBP2-22122
Western Blot: Endoglin/CD105 Antibody (3A9) [NBP2-22122] - Whole cell protein from HUVEC was separated on a 7.5% gel polyacrylamide gel and transferred to PVDF membrane. The membrane was probed with anti-CD105 antibody at 2 ug/ml and detected with an anti-mouse HRP labeled secondary antibody using chemiluminescence.Immunocytochemistry/Immunofluorescence: Endoglin/CD105 Antibody (3A9) [NBP2-22122] - HMSC cells stained with anti-CD105 antibody. Image from verified customer review.

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

     1 Review

2 Publications
Neurofibromin 1 Antibody
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
TBX1 Antibody (OTI1C2)
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

RUNX2/CBFA1 Antibody
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

9 Publications
RUNX1/CBFA2 Antibody
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 in human breast and liver tissues using NBP1-89105 antibody. Corresponding RUNX1 RNA-seq data are presented for the same tissues.

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

     1 Review

1 Publication
Pax6 Antibody
NB300-750
Western Blot: Pax6 Antibody [NB300-750] - Analysis of sheep retinal extractImmunocytochemistry/Immunofluorescence: 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
LIS1 Antibody
NBP1-87769
Western Blot: LIS1 Antibody [NBP1-87769] - Analysis of LIS1 in caco-2 whole cell lysate using anti-LIS1 antibody. Image submitted by a verified customer review.Immunocytochemistry/Immunofluorescence: LIS1 Antibody [NBP1-87769] - Staining of human cell line U-251 MG shows localization to centrosome. Antibody staining is shown in green.

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

     2 Reviews

Insulin Antibody (E2-E3 (same as INS04))
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

1 Publication
p14ARF/CDKN2A Antibody
NB200-111
Western Blot: p14ARF/CDKN2A Antibody [NB200-111] - ARF expression levels in OCI/AML3 cells after proteasome treatment. This image was submitted via customer Review.Immunocytochemistry/Immunofluorescence: p14ARF/CDKN2A Antibody [NB200-111] - p14ARF antibody was tested in HeLa cells with Dylight 488 (green). Nuclei were counterstained with DAPI (blue). Tubulin was stained with alpha tubulin (red).

Rabbit Polyclonal
Species Human, Mouse
Applications WB, ELISA, Flow

     2 Reviews

17 Publications
PTEN Antibody (217702) [Unconjugated]
MAB847
Western blot shows lysates of HeLa human cervical epithelial carcinoma cell line and rat and mouse brain tissue. PVDF membrane was probed with 0.5 µg/mL Mouse Anti-Human/Mouse/Rat PTEN Monoclonal Antibody (Catalog # MAB847) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <a class=PTEN was detected in immersion fixed paraffin-embedded sections of human liver array using Mouse Anti-Human/Mouse/Rat PTEN Monoclonal Antibody (Catalog # MAB847) at 25 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Mouse HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, IHC, CyTOF-ready

4 Publications
Sonic Hedgehog/Shh [Unconjugated]
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

35 Publications
ALK-1 Antibody
AF370

Goat Polyclonal
Species Human
Applications WB, IP

     1 Review

9 Publications
Twist-1 Antibody (10E4E6)
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/Immunofluorescence: 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

4 Publications
SF-1/NR5A1/Steroidogenic Factor 1 Antibody
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

3 Publications
Myoglobin Antibody (2269B) [Unconjugated]
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

Patched 1/PTCH Antibody
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