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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.

Top Research Reagents

We have 1724 products for the study of Williams Syndrome that can be applied to Chromatin Immunoprecipitation, Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Syntaxin 1A Antibody (2B2F10)
NBP3-15706
Western Blot: Syntaxin 1A Antibody (2B2F10) [NBP3-15706] - Western blot analysis of extracts of Rat brain, using Syntaxin 1A antibody (NBP3-15706) 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. Exposure time: 5s.Immunohistochemistry: Syntaxin 1A Antibody (2B2F10) [NBP3-15706] - Immunofluorescence analysis of mouse brain using Syntaxin 1A Rabbit mAb (NBP3-15706) at dilution of 1:100 (40x lens). Blue: DAPI for nuclear staining.

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

DHPS Antibody
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

2 Publications
PDLIM1 Antibody
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

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
PDLIM5 Antibody
NBP1-84843
Immunohistochemistry-Paraffin: PDLIM5 Antibody [NBP1-84843] - Staining in human heart muscle and testis tissues.. Corresponding PDLIM5 RNA-seq data are presented for the same tissues.Western Blot: PDLIM5 Antibody [NBP1-84843] - Analysis using Anti-PDLIM5 antibody NBP1-84843 (A) shows similar pattern to independent antibody NBP1-84842 (B).

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

1 Publication
CYLN2 Antibody
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
Peripherin 2/PRPH2 Antibody
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

Dehydrodolichyl Diphosphate Synthase Antibody
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
p57 Kip2 Antibody
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
TFII-I Antibody
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
GTF2IRD1 Antibody
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, ICC/IF, IHC

5 Publications
LIM Kinase 1 Antibody (OTI3H6)
NBP2-00748
Western Blot: LIM Kinase 1 Antibody (3H6) [NBP2-00748] Analysis of extracts (35ug) from 9 different cell lines by using anti-LIM Kinase 1 monoclonal antibody.Immunocytochemistry/Immunofluorescence: LIM Kinase 1 Antibody (3H6) [NBP2-00748] - Staining of COS7 cells transiently transfected by pCMV6-ENTRY LIM Kinase 1.

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

1 Publication
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
WSTF Antibody
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

3 Publications
NCF1 Antibody
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, ICC/IF

5 Publications
SMARCA5/SNF2H Antibody
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

7 Publications
ACF1 Antibody
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

4 Publications
Procalcitonin Antibody (44D9)
NB120-14817

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

     1 Review

11 Publications
CHREBP Antibody - BSA Free
NB400-135
Western Blot: CHREBP Antibody - BSA Free [NB400-135] - CHREBP Antibody [NB400-135] - Mouse liver tissue lysate, 10 ug total protein per lane, probed with CHREBP antibody. Specific bands at ~150 kDa (some wells as doublets). Weaker bands at ~45 kDa, very faint bands at ~100 kDa. These bands were absent after exposure to ChREBP blocking peptide, although some faint non-specific banding remained at ~90, ~60, and ~40 kDa. WB image submitted by a verified customer review.Immunocytochemistry/Immunofluorescence: CHREBP Antibody - BSA Free [NB400-135] - CHREBP Antibody [NB400-135] - RetSat depletion prevents the glucose-induced nuclear accumulation of ChREBP independent of 13,14-dihydroretinol generation. Hepatocytes were treated with Control or RetSat siRNA overnight. The next morning, cells were incubated with vehicle (DMSO) or 1 uM 13,14-dhretinol for 24 h at the indicated glucose concentrations and mRNA expression of Txnip determined by qPCR. Data are shown as mean +/- s.d., n = 4. Two-way ANOVA with Bonferroni post test revealed significances between low and high glucose (#P < 0.05) and between siControl and siRetSat (*P < 0.05), treatment with 13,14-dhretinol had no effect. Image collected and cropped by CiteAb from the following publication (https://www.nature.com/articles/s41467-017-00430-w), licensed under a CC-BY license.

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

     7 Reviews

151 Publications

Related Genes

Williams Syndrome has been researched against:

Related Pathways

Williams Syndrome has been linked to:

Related Diseases

Williams Syndrome has been studied in relation to diseases such as:

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.