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Weill-marchesani Syndrome: Disease Bioinformatics

Weill-Marchesani Syndrome is a rare genetic disorder that causes abnormal features at birth. Weill-Marchesani Syndrome is characterized by a broad head, short stature, hand abnormalities, and eye defects. The defects of the eye vary dramatically from minimal problems to blindness. There is no cure for Weill-Marchesani Syndrome, but eye surgery can be performed to help vision irregularities.

Top Research Reagents

We have 2285 products for the study of Weill-marchesani Syndrome that can be applied to Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

ADAMTS17 Antibody (3B7)
H00170691-M01
Western Blot: ADAMTS17 Antibody (3B7) [H00170691-M01] - ADAMTS17 monoclonal antibody (M01), clone 3B7 Analysis of ADAMTS17 expression in A-431.Immunohistochemistry-Paraffin: ADAMTS17 Antibody (3B7) [H00170691-M01] - Analysis of monoclonal antibody to ADAMTS17 on formalin-fixed paraffin-embedded human placenta. Antibody concentration 1.2 ug/ml.

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

3 Publications
MID1 Antibody
NBP1-26612
Western Blot: MID1 Antibody [NBP1-26612] - Whole cell lysate from HeLa (5, 15 and 50 ug) and 293T (T; 50 ug) cells. Antibody used at 1 ug/ml.

Rabbit Polyclonal
Species Human
Applications IP (-), WB

2 Publications
FBN3 Antibody
NBP3-42357
Western Blot: FBN3 Antibody [NBP3-42357] - Sample: Recombinant protein.Immunohistochemistry-Paraffin: FBN3 Antibody [NBP3-42357] - DAB staining on fromalin fixed paraffin-embedded stomach tissue

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

ADAMTSL4 Antibody
NBP1-84185
Western Blot: ADAMTSL4 Antibody [NBP1-84185] - Analysis in human cell line BEWO.Immunohistochemistry-Paraffin: ADAMTSL4 Antibody [NBP1-84185] - Staining of human placenta shows strong cytoplasmic positivity in trophoblastic cells.

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

2 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
AKR1B1 Antibody
NBP1-89146
Immunocytochemistry/Immunofluorescence: AKR1B1 Antibody [NBP1-89146] - Staining of human cell line A-431 shows localization to nucleoplasm & cytosol. Antibody staining is shown in green.Immunohistochemistry-Paraffin: AKR1B1 Antibody [NBP1-89146] - Staining of human liver shows no positivity in hepatocytes as expected.

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

PP14/Glycodelin Antibody
NBP1-89781
Western Blot: PP14/Glycodelin Antibody [NBP1-89781] - Analysis in human placenta tissue.Immunohistochemistry-Paraffin: PP14/Glycodelin Antibody [NBP1-89781] - Staining of human testis shows no positivity in cells in seminiferous ducts as expected.

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

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
LTBP3 Overexpression Lysate
NBP2-09509
Western Blot: LTBP3 Overexpression Lysate (Adult Normal) [NBP2-09509] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for LTBP3.


Species Human
Applications WB

ADAMTSL2 Antibody
NBP2-14798
Immunocytochemistry/Immunofluorescence: ADAMTSL2 Antibody [NBP2-14798] - Staining of human cell line A-431 shows localization to vesicles. Antibody staining is shown in green.Immunohistochemistry-Paraffin: ADAMTSL2 Antibody [NBP2-14798] - Staining of human skin shows no positivity in squamous epithelial cells as expected.

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

Amphiregulin Antibody
AF262
Western blot shows conditioned media from T47D human breast cancer cell line untreated (-) or treated (+) with PMA and PHA for 3 days. PVDF membrane was probed with 1 µg/mL of Goat Anti-Human Amphiregulin Antigen Affinity-purified Polyclonal Antibody (Catalog # AF262) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Amphiregulin was detected in immersion fixed MCF-7 human breast cancer cell line using Goat Anti-Human Amphiregulin Antigen Affinity-purified Poly-clonal Antibody (Catalog # AF262) 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, IHC, ICC

     1 Review

35 Publications
Catalase Antibody [Unconjugated]
AF3398
Western blot shows lysates of Jurkat human acute T cell leukemia cell line, Raji human Burkitt's lymphoma cell line, HeLa human cervical epithelial carcinoma cell line, NIH-3T3 mouse embryonic fibroblast cell line, A20 mouse B cell lymphoma cell line, and Rat-2 rat embryonic fibroblast cell line. PVDF membrane was probed with 0.5 µg/mL of Goat Anti-Human/Mouse/Rat Catalase Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3398) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Simple Western lane view shows lysates of Jurkat human acute T cell leukemia cell line and Raji human Burkitt's lymphoma cell line, loaded at 0.2 mg/mL. A specific band was detected for Catalase at approximately 62 kDa (as indicated) using 5 µg/mL of Goat Anti-Human/Mouse/Rat Catalase Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3398) followed by 1:50 dilution of HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=

Goat Polyclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, ICC

     3 Reviews

15 Publications
ADAMTS1 Antibody
AF5867
Western blot shows lysates of P19 mouse embryonal carcinoma cell line and OVCAR-3 human ovarian carcinoma cell line. PVDF Membrane was probed with 1 µg/mL of Sheep Anti-Human/Mouse ADAMTS1 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF5867) followed by HRP-conjugated Anti-Sheep IgG Secondary Antibody (Catalog # <a class=ADAMTS1 was detected in immersion fixed frozen sections of mouse embryo (13 d.p.c.) using Sheep Anti-Human/Mouse ADAMTS1 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF5867) at 15 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Sheep HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

Sheep Polyclonal
Species Human, Mouse
Applications WB, IHC, IP

10 Publications
ADAMTS10 Antibody (496708) [Unconjugated]
MAB5270

Mouse Monoclonal
Species Human
Applications WB, IP

Latent TGF-beta bp2/LTBP-2 Antibody
AF3850
Western blot shows lysates of HFL1 human fetal lung fibroblast cell line and human heart tissue. PVDF membrane was probed with 1 µg/mL of Goat Anti-Human Latent TGF-beta bp2/LTBP-2 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3850) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=

Goat Polyclonal
Species Human
Applications WB

     1 Review

2 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

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

817 Publications
Latent TGF-beta bp1 Antibody (35409) [Unconjugated]
MAB388

Mouse Monoclonal
Species Human
Applications WB, AP

11 Publications

Related Genes

Weill-marchesani Syndrome has been researched against:

Related Pathways

Weill-marchesani Syndrome has been linked to:

Related Diseases

Weill-marchesani Syndrome has been studied in relation to diseases such as:

Related PTMs

Weill-marchesani Syndrome has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Weill-marchesani Syndrome is also known as weill-marchesani syndrome, spherophakia-brachymorphia syndrome, weill-marchesani syndrome, autosomal recessive, mesodermal dysmorphodystrophy, congenital, congenital mesodermal dysmorphodystrophy, mesodermal dysmorphodystrophy congenital, spherophakia brachymorphia syndrome, congenital mesodermal dystrophy, neonatal hemochromatosis, marchesani syndrome, wm syndrome.