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Marfan Syndrome: Disease Bioinformatics

Marfan syndrome is a genetic disease that affects the connective tissue in the body that provides strength, support, and elasticity to tendons. This effects eyes, bones, skin, lungs, nervous system, and the heart and blood vessels. Marfan syndrome can be deadly if the disease causes damage to the aorta, causing bleeding in the inner walls of the vessel. If this happens surgery to replace the affected part of the aorta is often required. Marfan syndrome is relatively common, 1 in every 5,000 people have this syndrome. There is no cure for Marfan syndrome, however the life expectancy of a person with Marfan syndrome is that of an average person. Clinical trials are promising treatments to cure Marfan syndrome but for now issues are addressed as they arise.

Top Research Reagents

We have 3209 products for the study of Marfan Syndrome that can be applied to Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Bestrophin 1 Antibody (E6-6) - BSA Free
NB300-164
Western Blot: Bestrophin 1 Antibody (E6-6) - BSA Free [NB300-164] - Western blot analysis of the normal and mutant human Best1 protein in transiently transfected MDCK cells. Best1 proteins are detectable as a 68 kDa band in all transfected cells, but not in non-transfected controls (MDCK lane). Actin bands are shown to indicate equal loading of cell lysates. Image collected and cropped by CiteAb from the following publication (https://www.mdpi.com/1422-0067/14/7/15121), licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: Bestrophin 1 Antibody (E6-6) - BSA Free [NB300-164] - X-Z confocal single image scan of transiently transfected cells with different BEST1 cDNA constructs showing mislocalization of mutants Y85H, Q96R, L100R and Y227N. Cells were stained for Best1 (green), beta-catenin (red) and nuclei (blue). Scale bar = 10 um. Image collected and cropped by CiteAb from the following publication (https://www.mdpi.com/1422-0067/14/7/15121), licensed under a CC-BY license.

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

     1 Review

49 Publications
CBS Antibody (3E1)
H00000875-M01
Western Blot: CBS Antibody (3E1) [H00000875-M01] - Analysis of CBS expression in transfected 293T cell line by CBS monoclonal antibody (M01), clone 3E1.Lane 1: CBS transfected lysate(61 KDa).Lane 2: Non-transfected lysate.Immunohistochemistry-Paraffin: CBS Antibody (3E1) [H00000875-M01] - Analysis of monoclonal antibody to CBS on formalin-fixed paraffin-embedded human hepatocellular carcinoma. Antibody concentration 3 ug/ml.

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

     1 Review

57 Publications
Serpin A8/Angiotensinogen Antibody - BSA Free
NBP1-30027
Western Blot: Serpin A8/Angiotensinogen Antibody [NBP1-30027] - Analysis of Angiotensinogen in human kidney lysate.Immunocytochemistry/Immunofluorescence: Serpin A8/Angiotensinogen Antibody [NBP1-30027] - HepG2 cells were fixed for 10 minutes using 10% formalin and then permeabilized for 5 minutes using 1X TBS + 0.5% Triton-X100. The cells were incubated with anti-Angiotensinogen at 10 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:500 dilution. Alpha tubulin (DM1A) NB100-690 was used as a co-stain at a 1:1000 dilution and detected with an anti-mouse Dylight 550 (Red) 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, ICC/IF, IHC

11 Publications
Fibrillin 1 Antibody
NBP1-84722
Immunohistochemistry-Paraffin: Fibrillin 1 Antibody [NBP1-84722] - Staining in human cervix, uterine and cerebral cortex tissues . Corresponding FBN1 RNA-seq data are presented for the same tissues.Immunocytochemistry/Immunofluorescence: Fibrillin 1 Antibody [NBP1-84722] - Staining of human cell line U-251 MG shows localization to cytosol. Antibody staining is shown in green.

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

4 Publications
Fibrillin 2 Antibody
NBP1-88169
Immunohistochemistry-Paraffin: Fibrillin 2 Antibody [NBP1-88169] - Staining in human placenta and prostate tissues using anti-FBN2 antibody. Corresponding FBN2 RNA-seq data are presented for the same tissues.Western Blot: Fibrillin 2 Antibody [NBP1-88169] - Analysis in human cell lines U2OS and A-431. Corresponding RNA-seq data are presented for the same cell lines. Loading control: Anti-PARP1.

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

2 Publications
Androgen R/NR3C4 [p Ser213, p Ser210] Antibody (156C135.2) - BSA Free
NB100-56603
Western Blot: Androgen R/NR3C4 [p Ser213, p Ser210] Antibody (156C135.2) [NB100-56603] - Analysis using Azide Free version of NB100-56603. LNCaP cells (passage number 38) were serum-starved for 2 days. After serum starvation, cells were (A) left untreated, (B) treated with 100 ng/ml IGF-1 for 4h, or (C) incubated with 20 um LY294002 for 30 mi

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

14 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

11 Publications
Decorin Antibody [Unconjugated]
AF143
Western blot shows lysates of human uterus tissue and human heart tissue. PVDF membrane was probed with 0.1 µg/mL of Goat Anti-Human Decorin Antigen Affinity-purified Polyclonal Antibody (Catalog # AF143) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (<a class=Decorin was detected in immersion fixed paraffin-embedded sections of human breast using Goat Anti-Human Decorin Antigen Affinity-purified Polyclonal Antibody (Catalog # AF143) at 15 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; (<a class=

Goat Polyclonal
Species Human
Applications WB, Simple Western, IHC

27 Publications
ACE/CD143 Antibody [Unconjugated]
AF1513
Western blot shows lysates of mouse lung tissue. PVDF membrane was probed with 0.05 µg/mL of Goat Anti-Mouse ACE/CD143 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1513) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=ACE/CD143 was detected in perfusion fixed frozen sections of mouse kidney using 15 µg/mL Goat Anti-Mouse ACE/CD143 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1513) overnight at 4 °C. Tissue was stained (red). View our protocol for <A class=

Goat Polyclonal
Species Mouse
Applications WB, Simple Western, Flow

     1 Review

7 Publications
TGF-beta RII Antibody [Unconjugated]
AF-241-NA
Western blot shows lysates of HepG2 human hepatocellular carcinoma cell line, Hep3B human hepatocellular carcinoma cell line, U-118-MG human glioblastoma/astrocytoma cell line, HT1080 human fibrosarcoma cell line, and DU145 human prostate carcinoma cell line. PVDF membrane was probed with 2 µg/mL of Goat Anti-Human TGF-beta RII Antigen Affinity-purified Polyclonal Antibody (Catalog # AF-241-NA) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (<a class=Human blood-derived lymphocytes were labeled with Goat Anti-Human TGF-beta  RII Antigen Affinity-purified Poly­clonal Antibody (Catalog #<br>AF‑241‑NA, filled histogram) or control antibody (Catalog #<br><a class=

Goat Polyclonal
Species Human
Applications WB, Flow, IHC

38 Publications
TGF-beta RI/ALK-5 Antibody [Unconjugated]
AF3025
Western blot shows lysates of HeLa human cervical epithelial carcinoma cell line, HepG2 human hepatocellular carcinoma cell line, and Raji human Burkitt's lymphoma cell line. PVDF membrane was probed with 0.2 µg/mL of Goat Anti-Human TGF-beta RI/ALK-5 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3025) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=TGF-beta RI/ALK-5 was detected in immersion fixed human peripheral blood mononuclear cells (PBMCs) stimulated with LPS and monensin using Goat Anti-Human TGF-beta RI/ALK-5 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3025) 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=

Goat Polyclonal
Species Human
Applications WB, ELISA, ICC

16 Publications
Smad2/3 Antibody [Unconjugated]
AF3797
Western blot shows lysates of A549 human lung carcinoma cell line, Jurkat human acute T cell leukemia cell line, HEK293 human embryonic kidney cell line, and C2C12 mouse myoblast cell line. PVDF membrane was probed with 0.5 µg/mL Goat Anti-Human/Mouse Smad2/3 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3797) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Jurkat human acute T cell leukemia cell line treated with 50 ng/mL PMA and 200 ng/mL calcium ionomycin for 30 minutes was fixed using formaldehyde, resuspended in lysis buffer, and sonicated to shear chromatin. Smad2/3/DNA complexes were immunoprecipitated using 5 μg Goat Anti-Human/Mouse Smad2/3 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3797) or control antibody (Catalog # <A class=NoLineLink href=

Goat Polyclonal
Species Human, Mouse
Applications WB, Simple Western, IHC

     1 Review

24 Publications
Ferredoxin Reductase Antibody
NBP2-38530
Western Blot: Ferredoxin Reductase Antibody [NBP2-38530] - Analysis in human cell lines A-549 and U-251MG using anti-FDXR antibody. Corresponding FDXR RNA-seq data are presented for the same cell lines. Loading control: anti-GAPDH.Immunohistochemistry-Paraffin: Ferredoxin Reductase Antibody [NBP2-38530] - Staining in human adrenal gland and lymph node tissues using NBP2-38530 antibody. Corresponding FDXR RNA-seq data are presented for the same tissues.

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

TGF-beta 1 [Unconjugated]
7754-BH/CF
Recombinant human TGF-beta 1 (<a class=NoLineLink href=


Species Human
Applications BA

53 Publications
EGF [Unconjugated]
236-EG
Recombinant Human EGF Protein (Catalog # 236-EG) has a molecular weight (MW) of 6.7 kDa as analyzed by SEC-MALS, suggesting that this protein is a monomer.Recombinant Human EGF (Catalog # 236‑EG) stimulates cell proliferation of the Balb/3T3 mouse embryonic fibroblast cell line. The ED<sub>50</sub> for this effect is 20‑100 pg/mL.


Species Human
Applications BA

793 Publications
MMP-2 [HRP]
MMP200
N/A MMP-2 [HRP]N/A MMP-2 [HRP]


Species Human, Mouse, Rat
Applications ELISA

101 Publications
GM-CSF [Unconjugated]
7954-GM/CF
Measured in a cell proliferation assay using TF-1 human erythroleukemic cells. The ED<sub>50</sub> for this effect is 6-30 pg/mL.


Species Human
Applications BA

3 Publications
LAMC2 Antibody (CL2980)
NBP2-42388
Immunohistochemistry-Paraffin: LAMC2 Antibody (CL2980) [NBP2-42388] - Staining in human fallopian tube and liver tissues. Corresponding LAMC2 RNA-seq data are presented for the same tissues.Western Blot: LAMC2 Antibody (CL2980) [NBP2-42388] - Analysis in A-431 cells transfected with control siRNA, target specific siRNA probe #1 and #2, using Anti-LAMC2 antibody. Remaining relative intensity is presented. Loading control: Anti-GAPDH.

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

4 Publications
LOX Antibody
NB100-2527
Western Blot: LOX Antibody [NB100-2527] - LOX secretion and activity in response to tumor cell irradiation. Western blot of LOX zymogen (50 kDa) and active form (32 kDa) in conditioned media derived from irradiated A549 lung carcinoma cells 16-20 h after irradiation and quantification of band intensities from 3 independent experiments. Image collected and cropped by CiteAb from the following publication (https://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-14-532) licensed under a CC-BY license.Immunohistochemistry-Paraffin: LOX Antibody [NB100-2527] - Expression of Lox and Loxl1-Loxl4 mRNAs in orthotopic rat prostate tumours and in the surrounding normal rat prostate tissue. Representative sections from a 10-day orthotopic AT-1 rat prostate tumour (T), tumour-adjacent normal rat prostate tissue (N), and tumour-free control rat prostate tissue stained for LOX (inserts show LOX staining in higher magnifications). Image collected and cropped by CiteAb from the following publication (https://www.nature.com/articles/srep19608), licensed under a CC-BY license.

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

     5 Reviews

38 Publications