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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 2649 products for the study of Haploinsufficiency 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.

SHOX Antibody
NBP3-15753
Western Blot: SHOX Antibody [NBP3-15753] - Western blot analysis of extracts of various cell lines, using SHOX antibody (NBP3-15753) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit. Exposure time: 10s.Western Blot: SHOX Antibody [NBP3-15753] - Western blot analysis of extracts of various cell lines, using SHOX antibody (NBP3-15753) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit. Exposure time: 60s.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB

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

5 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
Patched 1/PTCH Antibody (OTI5C7)
NBP1-47945
Western Blot: Patched 1/PTCH Antibody (5c7) [NBP1-47945] - HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY Patched 1 (Right lane) cDNA for 48 hrs and lysed. Equivalent amounts of cell lysates (5 ug per lane) were separated by SDS-PAGE and immunoblotted with anti-Patched 1.Immunocytochemistry/Immunofluorescence: Patched 1/PTCH Antibody (OTI5C7) [NBP1-47945] - Staining of COS7 cells transiently transfected by pCMV6-ENTRY Patched 1.

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

4 Publications
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

35 Publications
LIS1 Antibody
NBP1-87769
Immunohistochemistry-Paraffin: LIS1 Antibody [NBP1-87769] - Analysis in human testis and liver tissues using NBP1-87769 antibody. Corresponding PAFAH1B1 RNA-seq data are presented for the same tissues.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.

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

     2 Reviews

RUNX1/CBFA2 Antibody
NBP1-89105
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.Immunocytochemistry/Immunofluorescence: RUNX1/CBFA2 Antibody [NBP1-89105] - Staining human cell line A-431 shows localization to nucleoplasm & vesicles. Antibody staining is shown in green.

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

     1 Review

2 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] - Formalin fixed paraffin embedded human renal cell carcinoma stained with Elastin antibody (NB100-2076)

Mouse Monoclonal
Species Human, Bovine, Feline
Applications WB, ICC/IF, IHC

     2 Reviews

8 Publications
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

29 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=NoLineLink href=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

16 Publications
RUNX2/CBFA1 Antibody (232902) [Unconjugated]
MAB2006
RUNX2/CBFA1 was detected in immersion fixed U2OS human osteosarcoma cell line using Rat Anti-Human RUNX2/CBFA1 Monoclonal Antibody (Catalog # MAB2006) at 10 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Rat IgG Secondary Antibody (red, upper panel; Catalog # <A class=NoLineLink href=

Rat Monoclonal
Species Human
Applications ICC

     1 Review

20 Publications
ALK-1 Antibody
AF370

Goat Polyclonal
Species Human
Applications WB, IP

     1 Review

13 Publications
PTEN Antibody [Unconjugated]
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 pancreas using Rabbit Anti-Human/Mouse/Rat PTEN Antigen Affinity-purified Polyclonal Antibody (Catalog # AF847) at 3 µg/mL for 1 hour at room temperature followed by incubation with the Anti-Rabbit IgG VisUCyte™ HRP Polymer Antibody (<a class=

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

7 Publications
Twist-1 Antibody (10E4E6) - BSA Free
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

     1 Review

6 Publications
Endoglin/CD105 [HRP]
DNDG00
Endoglin/CD105 [HRP] Endoglin/CD105 [HRP]


Species Human
Applications ELISA

37 Publications
Sonic Hedgehog/Shh [Unconjugated]
1845-SH/CF
Recombinant Human Sonic Hedgehog/Shh (C24II), N-Terminus (Catalog #<br>1845-SH/CF) induces alkaline phosphatase production by the C3H10T1/2 mouse embryonic fibroblast cell line. The ED<sub>50</sub> for this effect is 0.1‑0.4 μg/mL.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.


Species Human
Applications BA

57 Publications
TBX1 Antibody (OTI1C2)
NBP2-46076
Western Blot: TBX1 Antibody (OTI1C2) [NBP2-46076] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY TBX1.Immunohistochemistry-Paraffin: TBX1 Antibody (OTI1C2) [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, Mouse, Rat
Applications WB, IHC, IHC-P

1 Publication
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 licence.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 licence.

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

     2 Reviews

17 Publications
Myoglobin Antibody (2269B) [Unconjugated]
MAB97203
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= 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=

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

SF-1/NR5A1/Steroidogenic Factor 1 Antibody (CL9101)
NBP2-88921
Western Blot: SF-1/NR5A1/Steroidogenic Factor 1 Antibody (CL9101) [NBP2-88921] - Analysis in human cell line HEL.Immunocytochemistry/Immunofluorescence: SF-1/NR5A1/Steroidogenic Factor 1 Antibody (CL9101) [NBP2-88921] - Staining of U-2 OS cells using the Anti-NR5A1 monoclonal antibody, showing specific staining in the nucleoplasm in green. Microtubule- and nuclear probes are visualized in red and blue, respectively (where available).

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