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Hereditary Diseases: Disease Bioinformatics

Research of Hereditary Diseases has been linked to Malignant Neoplasms, Genetic Diseases, Inborn, Neoplasms, Fibrosis, Cystic Fibrosis. The study of Hereditary Diseases has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Hereditary Diseases include Pathogenesis, Transport, Localization, Secretion, Dna Repair. These pathways complement our catalog of research reagents for the study of Hereditary Diseases including antibodies and ELISA kits against CFTR, DMD, NF1, NEUROFIBROMATOSIS TYPE 1, LDLR.

Top Research Reagents

We have 4861 products for the study of Hereditary Diseases 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.

Nbs1 Antibody
NB100-143
Knockout Validated: Nbs1 Antibody [NB100-143] - Lysates of HeLa human cervical epithelial carcinoma parental cell line and Nbs1 knockout (KO) HeLa cell line. PVDF membrane was probed with 1:1000 of Rabbit Anti-Human Polyclonal [NB100-143] followed by HRP-conjugated Anti-Rabbit IgG Secondary Antibody (HAF008). Specific band was detected for Nbs1 at approximately 95 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: Nbs1 Antibody [NB100-143] - Western Blot with Nbs1 Antibody [NB100-143]. KSHV LANA recruits MRN (Mre11-Rad50-NBS1) complex. Co-immunoprecipitation of endogenous LANA and MRN proteins in BC3 cells. Cells were lysed using TBS-T buffer and the cell lysate was incubated with benzonase. After centrifugation, supernatant was incubated overnight with anti-LANA or IgG-control beads. The precipitated complexes were analyzed for the presence of endogenous Rad50, Mre11 and NBS1 by SDS-PAGE and immunoblotting. Image collected and cropped by CiteAb from the following publication (https://dx.plos.org/10.1371/journal.ppat.1006335), licensed under a CC-BY license.

Rabbit Polyclonal
Species Human, Mouse, Hamster
Applications WB, ChIP, ELISA

     8 Reviews

203 Publications
PGD Antibody
NBP1-31589
Western Blot: PGD Antibody [NBP1-31589] - Mouse tissue extracts (50 ug) was separated by 10% SDS-PAGE, and the membrane was blotted with PGD antibody [N1N3] diluted at 1:1000.Immunocytochemistry/Immunofluorescence: PGD Antibody [NBP1-31589] - HeLa cells were fixed in ice-cold MeOH for 5 min. Green: PGD protein stained by PGD antibody [N1N3] diluted at 1:500. Blue: Hoechst 33342 staining.

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

4 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
HFE Antibody (1G12)
H00003077-M01
Western Blot: HFE Antibody (1G12) [H00003077-M01] - Analysis of HFE expression in transfected 293T cell line by HFE monoclonal antibody (M01), clone 1G12.Lane 1: HFE transfected lysate(40.1 KDa).Lane 2: Non-transfected lysate.Immunocytochemistry/Immunofluorescence: HFE Antibody (1G12) [H00003077-M01] - Analysis of monoclonal antibody to HFE on HeLa cell. Antibody concentration 10 ug/ml.

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

     2 Reviews

1 Publication
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
PHGDH Antibody
NBP1-87311
Western Blot: PHGDH Antibody [NBP1-87311] - Analysis in human cell lines SK-MEL-30 and A-549. Corresponding RNA-seq data are presented for the same cell lines. Loading control: Anti-COX4I1.Immunocytochemistry/Immunofluorescence: PHGDH Antibody [NBP1-87311] - Staining of human cell line U-2 OS shows localization to plasma membrane & cytosol. Antibody staining is shown in green.

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

7 Publications
Blooms Syndrome Protein Blm Antibody
NBP1-89929
Immunocytochemistry/Immunofluorescence: Blooms Syndrome Protein Blm Antibody [NBP1-89929] - Staining of human cell line A-431 shows positivity in nucleus and cytoplasm. Antibody staining is shown in green.Immunohistochemistry-Paraffin: Blooms Syndrome Protein Blm Antibody [NBP1-89929] - Staining of human stomach shows strong nuclear positivity in glandular cells.

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

     1 Review

4 Publications
Dystrophin Antibody
NBP1-89953
Immunohistochemistry-Paraffin: Dystrophin Antibody [NBP1-89953] - Staining in human skeletal muscle and tonsil tissues . Corresponding DMD RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: Dystrophin Antibody [NBP1-89953] - Staining of human heart muscle shows strong membranous positivity in myocytes.

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

4 Publications
Serpin A3N Antibody [Unconjugated]
AF4709

Goat Polyclonal
Species Mouse
Applications WB, IP

31 Publications
LDLR Antibody [Unconjugated]
AF2255
Western blot shows lysates of mouse liver tissue. PVDF membrane was probed with 0.1 µg/mL of Goat Anti-Mouse LDLR Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2255) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=LDL R was detected in perfusion fixed frozen sections of mouse liver using Mouse LDL R Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2255) 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=

Goat Polyclonal
Species Mouse
Applications WB, Flow, IHC

45 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
CFTR Antibody (24-1) [Unconjugated] - C-terminus
MAB25031
CFTR was detected in immersion fixed paraffin-embedded sections of human placenta using 8 µg/mL Mouse Anti-Human CFTR C-Terminus Monoclonal Antibody (Catalog # MAB25031) overnight at 4 °C. Tissue was stained with the Anti-Mouse HRP-AEC Cell & Tissue Staining Kit (red; Catalog # <a class=CFTR was detected in immersion fixed paraffin-embedded sections of human placenta using Mouse Anti-Human CFTR C-Terminus Monoclonal Antibody (Catalog # MAB25031) 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
Applications WB, IHC, IP

     10 Reviews

75 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
TNF-alpha [Unconjugated]
210-TA
Recombinant Human TNF-alpha (Catalog # 210-TA) has a molecular weight (MW) of 53.1 kDa as analyzed by SEC-MALS, suggesting that this protein is a homotrimer.  MW may differ from predicted MW due to post-translational modifications (PTMs) present (i.e. Glycosylation).Recombinant Human TNF-alpha (Catalog # 210‑TA) induces cytotoxicity in the L-929 mouse fibroblast cell line in the presence of the metabolic inhibitor actinomycin D. The ED<sub>50</sub> for this effect is 25‑100 pg/mL.


Species Human
Applications BA

     3 Reviews

808 Publications
ATM Antibody (2C1)
NB100-309
Immunohistochemistry-Paraffin: ATM Antibody (2C1) [NB100-309] - Human Testis (formalin-fixed, paraffin-embedded) stained with ATM antibody (2C1) [NB100-309] at 5 ug/ml followed by biotinylated anti-mouse IgG secondary antibody, alkaline phosphatase-streptavidin and chromogen.Western Blot: ATM Antibody (2C1) [NB100-309] - Detection of human ATM protein using ATM antibody (2C1) [NB100-309] by western blot or immunoprecipitation. Theoretical molecular weight 351 kDa.

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

     3 Reviews

131 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

Phenylalanine Hydroxylase Antibody
NBP2-48615
Immunohistochemistry-Paraffin: Phenylalanine Hydroxylase Antibody [NBP2-48615] - Analysis in human liver and pancreas tissues. Corresponding Phenylalanine Hydroxylase RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: Phenylalanine Hydroxylase Antibody [NBP2-48615] - Staining of human cerebral cortex, kidney, liver and pancreas using Anti-Phenylalanine Hydroxylase antibody NBP2-48615 (A) shows similar protein distribution across tissues to independent antibody NBP1-80917 (B).

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

1 Publication
APC Antibody - BSA Free
NB100-91662
Western Blot: APC Antibody [NB100-91662] - Lane1:Hela cell lysate. Lane2:HEK293T cell lysate. Lane3:Rat testis tissue lysate. Immunocytochemistry/Immunofluorescence: APC Antibody [NB100-91662] - HeLa cells were fixed for 10 minutes using 10% formalin and then permeabilized for 5 minutes using 1X PBS + 0.05% Triton-X100. The cells were incubated with anti-APC Antibody at 2 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:500 dilution. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 40X objective.

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

2 Publications
Huntingtin Antibody
NBP3-13106
Western Blot: Huntingtin Antibody [NBP3-13106] - Non-transfected (-) and transfected (+) U87-MG whole cell extracts (30 ug) were separated by 5% SDS-PAGE, and the membrane was blotted with Huntingtin antibody (NBP3-13106) diluted at 1:1000.Immunocytochemistry/Immunofluorescence: Huntingtin Antibody [NBP3-13106] - Huntingtin antibody detects Huntingtin protein at cytoplasm by immunofluorescent analysis. Sample: SK-N-SH cells were fixed in 4% paraformaldehyde at RT for 15 min. Green: Huntingtin protein stained by Huntingtin antibody (NBP3-13106) diluted at 1:500. Blue: Hoechst 33342 staining. Scale bar = 10 um.

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