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Williams Syndrome: Disease Bioinformatics

Williams Syndrome is a very rare genetic disorder that is caused by a random genetic mutation. It is characterized by major cardiovascular issues, high blood pressure, chronic ear infections, kidney problems, and vision problems. The degrees of severity vary dramatically with differences in learning delays, memory and attention problems, slow physical maturation, and decreased motor skills. There is no cure for Williams Syndrome, but each symptom can be watched and treated as well as the use of physical and language therapy.

Williams 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 Williams 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 826 products for the study of Williams Syndrome that can be applied to Western Blot, Chromatin Immunoprecipitation, Immunocytochemistry/Immunofluorescence, Flow Cytometry, Chromatin Immunoprecipitation (ChIP), Immunohistochemistry from our catalog of antibodies and ELISA kits.

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
NBP1-90010
Western Blot: TFII-I Antibody [NBP1-90010] - Analysis in human cell line SH-SY5Y.Immunocytochemistry/Immunofluorescence: TFII-I Antibody [NBP1-90010] - Staining of human cell line A-431 shows localization to nucleoplasm. Antibody staining is shown in green.

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

     1 Review

1 Publication
NBP1-91973
Western Blot: GTF2IRD1 Antibody [NBP1-91973] - Lane 1: Marker [kDa] 250, 130, 95, 72, 55, 36, 28, 17, 10Lane 2: Human cell line RT-4Lane 3: Human cell line U-251MG spImmunocytochemistry/Immunofluorescence: GTF2IRD1 Antibody [NBP1-91973] - Staining of human cell line U-251 MG shows localization to nucleoplasm & cytosol.

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

4 Publications
NBP3-03399
Western Blot: WSTF Antibody [NBP3-03399] - Analysis of extracts of various cell lines, using WSTF antibody 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.Immunocytochemistry/Immunofluorescence: WSTF Antibody [NBP3-03399] - Analysis of HeLa cells using WSTF antibody at dilution of 1:100 (40x lens). Blue: DAPI for nuclear staining.

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

NBP1-89917
Immunohistochemistry-Paraffin: p57 Kip2 Antibody [NBP1-89917] - Staining in human placenta and colon tissues using anti-CDKN1C antibody. Corresponding CDKN1C RNA-seq data are presented for the same tissues.Western Blot: p57 Kip2 Antibody [NBP1-89917] - Analysis in human placenta tissue.

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

1 Publication
H00003984-M01
Western Blot: LIM Kinase 1 Antibody (1A8) [H00003984-M01] - LIMK1 monoclonal antibody (M01), clone 1A8. Analysis of LIMK1 expression in NIH/3T3.Immunohistochemistry-Paraffin: LIM Kinase 1 Antibody (1A8) [H00003984-M01] - Analysis of monoclonal antibody to LIMK1 on formalin-fixed paraffin-embedded human stomach. Antibody concentration 3 ug/ml.

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

NBP1-84443
Western Blot: PDLIM1 Antibody [NBP1-84443] - Analysis in human cell line CACO-2 and human cell line U-251 MG.Immunohistochemistry-Paraffin: PDLIM1 Antibody [NBP1-84443] - Staining of human Placenta shows strong cytoplasmic positivity in decidual cells.

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

NBP1-85569
Western Blot: CYLN2 Antibody [NBP1-85569] - Analysis in human cell lines SK-MEL-30 and HEK293. Corresponding RNA-seq data are presented for the same cell lines. Loading control: Anti-PFN1.Immunohistochemistry-Paraffin: CYLN2 Antibody [NBP1-85569] - Staining in human cerebral cortex and kidney tissues using anti-CLIP2 antibody. Corresponding CLIP2 RNA-seq data are presented for the same tissues.

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

1 Publication
NB100-55310
Western Blot: SMARCA5/SNF2H Antibody [NB100-55310] - SNF2H Antibody [NB100-55310] - Detection of Human SNF2h/ISWI on HeLa whole cell lysate using NB100-55310. SNF2h/ISWI was also immunoprecipitated by rabbit anti-SNF2h/ISWI antibodies BL4495 and NB100-55311.Western Blot: SMARCA5/SNF2H Antibody [NB100-55310] - WB analysis of SNF2H in Mouse Stem Cell lysate. Verified customer review from 1DegreeBio.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, IP

     1 Review

5 Publications
AF7237
Western blot shows lysates of human brain (cerebellum) tissue, mouse brain tissue, and rat brain tissue. PVDF membrane was probed with 0.2 µg/mL of Goat Anti-Human/Mouse/Rat Syntaxin 1A Antigen Affinity-purified Polyclonal Antibody (Catalog # AF7237) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <A class=NoLineLink href=SH-SY5Y human neuroblastoma cells were cultured overnight in the presence of 1 mM Retinoic Acid (Catalog # <A class=NoLineLink href=

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

NBP1-84843
Western Blot: PDLIM5 Antibody [NBP1-84843] - Analysis using Anti-PDLIM5 antibody NBP1-84843 (A) shows similar pattern to independent antibody NBP1-84842 (B).Immunocytochemistry/Immunofluorescence: PDLIM5 Antibody [NBP1-84843] - Immunofluorescent staining of human cell line U-251 MG shows localization to plasma membrane, cytosol & focal adhesion sites.

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

1 Publication
NBP1-87964
Immunohistochemistry-Paraffin: Dehydrodolichyl Diphosphate Synthase Antibody [NBP1-87964] - Staining of human Skeletal muscle shows very weak cytoplasmic positivity in myocytes.Immunohistochemistry-Paraffin: Dehydrodolichyl Diphosphate Synthase Antibody [NBP1-87964] - Staining of human Epididymis shows strong membranous and cytoplasmic positivity in glandular cells.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

1 Publication
NBP1-86687
Western Blot: Peripherin 2/PRPH2 Antibody [NBP1-86687] - Analysis in control (vector only transfected HEK293T lysate) and PRPH2 over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunohistochemistry-Paraffin: Peripherin 2/PRPH2 Antibody [NBP1-86687] - Staining of human liver shows no positivity in hepatocytes as expected.

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

NBP1-82648
Western Blot: DHPS Antibody [NBP1-82648] - Analysis in control (vector only transfected HEK293T lysate) and DHPS over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunocytochemistry/Immunofluorescence: DHPS Antibody [NBP1-82648] - Staining of human cell line U-2 OS shows localization to nucleoplasm, plasma membrane & cytosol. Antibody staining is shown in green.

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

1 Publication
NB100-790
Western Blot: NCF1 Antibody [NB100-790] - Staining of U937 (A), Daudi (B), U251 (C) and negative control A431 (D) cell lysate (35 ug protein in RIPA buffer). Antibody at 0.2, 0.01, and 0.3 ug/mL respectively.  Detected by chemiluminescence.Immunohistochemistry-Paraffin: NCF1 Antibody [NB100-790] - Staining of paraffin embedded Human Colon. Antibody at 5 ug/mL. Steamed antigen retrieval with citrate buffer pH 6, AP-staining.

Goat Polyclonal
Species Human, Mouse, Porcine
Applications WB, Flow, IHC

4 Publications
NB100-61041
Western Blot: ACF1 Antibody [NB100-61041] - Detection of Human ACF1/BAZ1A on HeLa whole cell lysates (5, 15, and 50 microgram for WB; 1 mg for IP, 20% of IP loaded) using NB100-6104. ACF1/BAZ1A was also immunoprecipitated by rabbit anti-ACF1/BAZ1A antibody NB100-61042.

Rabbit Polyclonal
Species Human
Applications WB, IP

2 Publications
NB400-135
Western Blot: CHREBP Antibody [NB400-135] - Detection of ChREBP in liver nuclear extracts from well-fed rats. 7% SDS-PAGE gel, 1:1000 dilution of NB400-135. Photo courtesy of Dr. Uyeda, UT Southwestern University.Immunohistochemistry: CHREBP Antibody [NB400-135] - Analysis of CHREBP in mouse liver using DAB with hematoxylin counterstain.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ChIP, GS

     7 Reviews

117 Publications
NB120-14817

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

     1 Review

6 Publications
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

Related Genes

Williams Syndrome has been researched against:

Related PTMs

Williams Syndrome has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Williams Syndrome is also known as williams syndrome, williams-beuren syndrome, infantile hypercalcemia, wms, wbs, hypercalcemia-supravalvar aortic stenosis, supravalvar aortic stenosis syndrome, elfin facies with hypercalcemia, supravalvular aortic stenosis, supravalvar aortic stenosis, elfin facies syndrome, beuren syndrome, hypercalcemia, ws.