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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.

Marfan Syndrome 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 Marfan Syndrome 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 1459 products for the study of Marfan Syndrome that can be applied to Chromatin Immunoprecipitation, Western Blot, Immunocytochemistry/Immunofluorescence, Flow Cytometry, Immunohistochemistry, Chromatin Immunoprecipitation (ChIP) from our catalog of antibodies and ELISA kits.

NB110-8146
Immunocytochemistry/Immunofluorescence: Fibrillin 1 Antibody (11C1.3) [NB110-8146] - Analysis of Fibrillin-1 (green) showing staining in the cytoplasm of SH-SY5Y cells (right) compared to a negative control without primary antibody (left).Immunohistochemistry-Frozen: Fibrillin 1 Antibody (11C1.3) [NB110-8146] - Adult eye (blue) and muscle (red) tissue.  An image was captured using epifluorescent microscope detecting signals from Alexa fluor 568 conjugated secondary antibody. Used at 1:100 dilution. Image from verified customer review.

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

     1 Review

3 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] - 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, ICC/IF, IHC

     2 Reviews

5 Publications
NBP1-88169
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.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.

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

2 Publications
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 (Catalog # <a class=Recombinant Human TGF‑ beta 1 (Catalog # <a class=

Goat Polyclonal
Species Human
Applications WB, Flow, IHC

17 Publications
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=NoLineLink href=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=NoLineLink href=

Goat Polyclonal
Species Human
Applications WB, ELISA, ICC

     2 Reviews

6 Publications
236-EG
1 µg/lane of Recombinant Human EGF was resolved with SDS-PAGE  and visualized by silver staining under reducing (R) conditions, showing a single band at 6 kDa.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

     21 Reviews

458 Publications
NB100-62346
Western Blot: Angiotensin II/III Antibody (Ang II E7 (BGN/KA/4L)) [NB100-62346] - Protein expressions of intrarenal RAS components in two groups of mice. Western blot analysis for protein expressions of intrarenal RAS components in the two groups of mice. Image collected and cropped by CiteAb from the following publication (lipidworld.biomedcentral.com/articles/10.1186/1476-511X-12-49), licensed under a CC-BY licence.Immunohistochemistry: Angiotensin II/III Antibody (Ang II E7 (BGN/KA/4L)) [NB100-62346] - Protein expressions of intrarenal RAS components in two groups of mice. (A) Immunohistochemical analysis of intrarenal RAS expression position in the two groups of mice. AGT immunoreactivity in the proximal tubular cells, Ang II immunoreactivity in both glomerular and tubular cells, renin immunoreactivity in juxtaglomerular apparatus cells, ACE immunoreactivity in brush border membranes of proximal tubules as well as AT1 and AT2 immunoreactivity in the proximal tubules were increased in the HF group when compared to the control group. Image collected and cropped by CiteAb from the following publication (lipidworld.biomedcentral.com/articles/10.1186/1476-511X-12-49), licensed under a CC-BY licence.

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

14 Publications
7754-BH/CF


Species Human

5 Publications
AF1513
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=    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=

Goat Polyclonal
Species Mouse
Applications WB, Simple Western, Flow

     1 Review

3 Publications
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

48 Publications
7954-GM/CF


Species Human

1 Publication
NBP2-42388
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.Immunocytochemistry/Immunofluorescence: LAMC2 Antibody (CL2980) [NBP2-42388] - Staining of A-431 cells using the Anti-LAMC2 monoclonal antibody, showing specific staining in the cytosol in green. Microtubule- and nuclear probes are visualized in red and blue, respectively (where available).

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

2 Publications
MMP200
 MMP-2 [HRP] MMP-2 [HRP]


Species Human, Mouse, Rat

     1 Review

61 Publications
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=NoLineLink href=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, ChIP

     3 Reviews

12 Publications
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

13 Publications
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 (Catalog # <a class=NoLineLink href=  Simple  Western lane view shows lysates of human uterus and human heart tissue, loaded at  0.2 mg/mL. A specific band was detected for Decorin at approximately  140-149 kDa (as indicated) using 5 µg/mL of Goat Anti-Human  Decorin Antigen Affinity-purified Polyclonal Antibody (Catalog # AF143).  This experiment was conducted under reducing conditions and using  the 12-230 kDa separation system.        

Goat Polyclonal
Species Human
Applications WB, Simple Western, IHC

16 Publications
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 (http://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-14-532) licensed under a CC-BY licence.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 (http://www.nature.com/articles/srep19608), licensed under a CC-BY licence.

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

     5 Reviews

27 Publications
NB300-164
Dual RNAscope ISH-IHC: Bestrophin 1 Antibody (E6-6) [NB300-164] - Formalin-fixed paraffin-embedded tissue sections of human duodenum were probed for Bestrophin 1 mRNA (ACD RNAScope Probe, catalog # 433181; Fast Red chromogen, ACD catalog # 322360). Adjacent tissue section was processed for immunohistochemistry using mouse anti-human  (Novus Biologicals catalog # NB300-164) at 0.3ug/mL with overnight incubation at 4 degrees Celsius followed by incubation with anti-mouse IgG VisUCyte HRP Polymer Antibody (Catalog # VC001) and DAB chromogen (yellow-brown). Tissue was counterstained with hematoxylin (blue).  IHC signal is confined to cytoplasm.Immunohistochemistry-Paraffin: Bestrophin 1 Antibody (E6-6) [NB300-164] - Bestrophin 1 was detected in immersion fixed paraffin sections of human small intestine using t Mouse Anti-Human Bestrophin 1 Monoclonal Antibody (Catalog # NB300-164) at 5 ug/mL for 1 hour at room temperature followed by incubation with the Anti-Mouse IgG VisUCyte™ HRP Polymer Antibody (Catalog # VC001). Tissue was stained using DAB (brown) and counterstained with hematoxylin (blue). Specific staining was localized to the cell surface and extracellular.

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

     1 Review

39 Publications
NBP2-38530
Western Blot: Ferredoxin Reductase Antibody [NBP2-38530] - Analysis using Anti-FDXR antibody NBP2-38530 (A) shows similar pattern to independent antibody NBP2-38706 (B).Immunocytochemistry/Immunofluorescence: Ferredoxin Reductase Antibody [NBP2-38530] - Staining  of human cell line U-2 OS shows positivity in mitochondria. Antibody staining is shown in green.

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