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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 673 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] - Formalin fixed paraffin embedded human kidney stained with Elastin antibody.

Mouse Monoclonal
Species Human, Porcine, Canine
Applications WB, IHC, IHC-Fr

     2 Reviews

4 Publications
NBP1-90010
Western Blot: TFII-I Antibody [NBP1-90010] - Lane 1: Marker  [kDa] 230, 130, 95, 72, 56, 36, 28, 17, 11.  Lane 2: Human cell line RT-578Immunocytochemistry/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, Mouse, Rat
Applications WB, ICC/IF, IHC

     1 Review

1 Publication
NBP1-91973
Immunohistochemistry-Paraffin: GTF2IRD1 Antibody [NBP1-91973] - Staining of human skin shows moderate to strong cytoplasmic and nuclear positivity in squamous epithelial cells.Immunohistochemistry-Paraffin: GTF2IRD1 Antibody [NBP1-91973] - Staining of human kidney shows weak cytoplasmic positivity in cells in tubules.

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

4 Publications
NB600-279
Western Blot: WSTF Antibody [NB600-279] - Whole cell lysate (50 ug) from HCT116, HeLa, 293T, and Jurkat cells prepared using NETN lysis buffer. Antibody: Affinity purified rabbit anti-WSTF antibody used for WB at 0.1 ug/ml. Detection: Chemiluminescence with an exposure time of 3 minutesImmunohistochemistry-Paraffin: WSTF Antibody [NB600-279] - FFPE section of human small cell lung cancer. Antibody: Affinity purified rabbit anti-WSTF used at a dilution of 1:200 (1ug/ml). Detection: DAB

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

2 Publications
NBP1-89917
Western Blot: p57 Kip2 Antibody [NBP1-89917] - Analysis in human placenta tissue.Immunocytochemistry/Immunofluorescence: p57 Kip2 Antibody [NBP1-89917] - Staining of human cell line U-2 OS shows localization to nucleoplasm, nuclear bodies & cytosol.

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

1 Publication
NB100-82021
Western Blot: LIM Kinase 1 [p Thr508] Antibody [NB100-82021] - Lane 1 : Hela treated with PMA; Lane 2 : Mouse brain tissue; Lane 3 : Rat brain tissue; Lane 4 : N-peptide blocked Hela treated with PMA; Lane 5 : N-peptide blocked Mouse brain tissue; Lane 6 : N-peptide blocked Rat brain tissue; Lane 7 : P-peptide blocked Hela treated with PMA; Lane 8 : P-peptide blocked Mouse brain tissue; Lane 9 : P-peptide blocked Rat brain tissue; Lysates/proteins at 40 ug per lane. Predicted band size : 72 kDa Observed band size : 72 kDaImmunocytochemistry/Immunofluorescence: LIM Kinase 1 [p Thr508] Antibody [NB100-82021] - Staining of methanol-fixed Hela cells using LIMK1(Phospho-Thr508) antibody

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

1 Publication
NBP1-51917
Western Blot: PDLIM1 Antibody [NBP1-51917] - (0.1ug/ml) of Human Lung lysate (RIPA buffer, 35ug total protein per lane).  Primary incubated for 1 hour.  Detected by chemiluminescence.Immunohistochemistry-Paraffin: PDLIM1 Antibody [NBP1-51917] - (5ug/ml) staining of paraffin embedded Human Placenta. Steamed antigen retrieval with citrate buffer pH 6, AP-staining.

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

1 Publication
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
MAB7237
Western blot shows lysates of human brain tissue and rat brain tissue. PVDF membrane was probed with 0.1 µg/mL of Mouse Anti-Human Syntaxin 1A Monoclonal Antibody (Catalog # MAB7237) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <A class=NoLineLink href=Syntaxin 1A was detected in immersion fixed paraffin-embedded sections of human brain using Mouse Anti-Human Syntaxin 1A Monoclonal Antibody (Catalog # MAB7237) at 15 µg/mL overnight at 4 °C. Before incubation with the primary antibody, tissue was subjected to heat-induced epitope retrieval using Antigen Retrieval Reagent-Basic (Catalog # <a class=

Mouse Monoclonal
Species Human
Applications WB, IHC

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
NBP1-84975
Immunohistochemistry-Paraffin: Dehydrodolichyl Diphosphate Synthase Antibody [NBP1-84975] - Staining of human stomach shows strong cytoplasmic and membranous 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

2 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 gel, 1:1,000 dilution of NB400-135. Photo courtesy of Dr. Uyeda, UT Southwestern University.Chromatin Immunoprecipitation: CHREBP Antibody [NB400-135] - Effects of glucose on ChREBP binding.HepG2 cells were treated with low (2.7 mM) and high (25 mM) glucose for 8 h. Chromatin was isolated and fragmented, and ChIP was performed with control IgG or anti-ChREBP antibody. Validated primers for each gene were used for quantitative real-time PCR. The data presented as fold increase for the signal from anti-ChREBP relative to control IgG. The negative control, Cyclo, showed no enrichment (data not shown). Values represent the mean +/- S.D. of three independent samples. *p<0.005 vs. IgG, #p<0.0001 vs. 2.7 mM glucose with anti-ChREBP.  Image collected and cropped by CiteAb from the following publication (http://dx.plos.org/10.1371/journal.pone.0022544), licensed under a CC-BY licence.

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

     5 Reviews

101 Publications
NB120-14817

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

     1 Review

3 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

2 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.