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Potocki-shaffer Syndrome: Disease Bioinformatics

Research of Potocki-shaffer Syndrome has been linked to Hereditary Multiple Exostoses, Exostoses, Craniofacial Abnormalities, Haploinsufficiency, Developmental Delay (disorder). The study of Potocki-shaffer Syndrome has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Potocki-shaffer Syndrome include Brain Development, Ossification, Localization, Chromatin Remodeling. These pathways complement our catalog of research reagents for the study of Potocki-shaffer Syndrome including antibodies and ELISA kits against EXT2, ALX4, MSX2, PAX6, WT1.

Potocki-shaffer 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 Potocki-shaffer 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 725 products for the study of Potocki-shaffer Syndrome that can be applied to Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

MBD2 Antibody
NB100-81657
Western Blot: MBD2 Antibody [NB100-81657] - Detection of Human and Mouse MBD2 on HeLa whole cell lysate using NB100-81657. MBD2 was also immunoprecipitated by rabbit anti-MBD2 antibody NB100-81656.Immunohistochemistry-Paraffin: MBD2 Antibody [NB100-81657] - Section of human prostate carcinoma. Antibody: Affinity purified rabbit anti-MBD2 used at a dilution of 1:200 (1ug/ml). Detection: DAB

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

3 Publications
WT1 Antibody (6F-H2) - BSA Free
NB110-60011
Western Blot: WT1 Antibody (6F-H2) [NB110-60011] - Hypomethylation of the Intron 1 CpG island results in WT1 expression. RNA was isolated from K562 and U937 cells growing under atmospheric conditions (Normox) and from U937 cells growing in 1% O2 (Hypox) and was analyzed by RT-PCR using primers that span exon 5 of the WT1 mRNA. Ribosomal RNA 36B4 is used as a positive control, and molecular weight markers (MW) are shown. Image collected and cropped by CiteAb from the following publication (http://dx.plos.org/10.1371/journal.pone.0119837), licensed under a CC-BY licence.Immunohistochemistry-Paraffin: WT1 Antibody (6F-H2) [NB110-60011] - Staining of human kidney glomerulus tissue. Heat mediated antigen retrieval was performed by heating in citrate buffer (pH 6) at 95C for 20 minutes. Image from verified customer review.

Mouse Monoclonal
Species Human
Applications WB, Simple Western, ICC/IF

     3 Reviews

8 Publications
Pax6 Antibody
NB300-750
Western Blot: Pax6 Antibody [NB300-750] - Analysis of sheep retinal extractImmunocytochemistry/Immunofluorescence: Pax6 Antibody [NB300-750] - ARPE-19 monolayer on glass substrate. Fixative Methanol Blocking Goat Serum. Dilution 1:100. Incubation 1h @ RT. This image was submitted via customer Review.

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

     4 Reviews

5 Publications
Exosome component 6 Antibody
NBP1-57508
Western Blot: Exosome component 6 Antibody [NBP1-57508] - Jurkat cell lysate, Antibody Titration: 5.0ug/mlImmunohistochemistry-Paraffin: Exosome component 6 Antibody [NBP1-57508] - Human Muscle Tissue, Skeletal muscle cells (Indicated with Arrows) 4-8ug/ml.

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

Ext2 Antibody
NBP1-58297
Western Blot: Ext2 Antibody [NBP1-58297] - Human Hela, Antibody Dilution: 1.0 ug/ml EXT2 is supported by BioGPS gene expression data to be expressed in HeLa.Immunohistochemistry: Ext2 Antibody [NBP1-58297] - Formalin Fixed Paraffin Embedded Tissue: Human heart Tissue Observed Staining: Cytoplasmic Primary Antibody Concentration: N/A Other Working Concentrations: 1:600 Secondary Antibody: Donkey anti-Rabbit-Cy3 Secondary Antibody Concentration: 1:200 Magnification: 20X Exposure Time: 0.5 - 2.0 sec

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

P11 Antibody
NBP1-82458
Immunohistochemistry-Paraffin: P11 Antibody [NBP1-82458] - Staining of human skin shows strong cytoplasmic positivity in squamous epithelial cells.Immunohistochemistry-Paraffin: P11 Antibody [NBP1-82458] - Staining of human endometrium shows no positivity in glandular cells as expected.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

MSX2 Antibody
NBP1-85445
Immunohistochemistry-Paraffin: MSX2 Antibody [NBP1-85445] - Staining of human placenta shows strong nuclear positivity in trophoblastic cells.Immunohistochemistry-Paraffin: MSX2 Antibody [NBP1-85445] - Staining of human urinary bladder shows weak nuclear positivity in urothelial cells.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

3 Publications
PEX16 Antibody
NBP1-85828
Western Blot: PEX16 Antibody [NBP1-85828] - Lane 1: Mouse liver tissue lysate Lane 2: Rat liver tissue lysateStaining of human cerebellum shows moderate membranous positivity in Purkinje cells.

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

MTSS1 Antibody
NBP2-24716
Western Blot: MTSS1 Antibody [NBP2-24716] - Analysis of MTSS1 in human testis lysate in the 1) absence and 2) presence of immunizing peptide, 3) mouse and 4) rat testis lysate using NBP2-24716 at 2 ug/ml, 4 ug/ml and 2 ug/ml, respectively.Immunohistochemistry-Paraffin: MTSS1 Antibody [NBP2-24716] - Analysis of human colon using this antibody at 10 ug/ml.

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

1 Publication
Glycosyltransferase-Like 1B Antibody
NBP2-30370
Western Blot: Glycosyltransferase-Like 1B Antibody [NBP2-30370] - Lane 1: Marker [kDa] 250, 130, 95, 72, 55, 36, 28, 17, 10. Lane 2: Human cell line RT-4. Lane 3: Human cell line U-251MG sp. Lane 4: Human plasma (IgG/HSA depleted). Lane 5: Human liver tissueImmunohistochemistry-Paraffin: Glycosyltransferase-Like 1B Antibody [NBP2-30370] - Staining of human bone marrow shows moderate cytoplasmic positivity in subset of hematopoietic cells.

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

JIP1 Antibody
AF4366
Western blot shows lysates of C2C12 mouse myoblast cell line, Neuro‑2A mouse neuroblastoma cell line, and PC‑12 rat adrenal pheochromocytoma cell line. PVDF membrane was probed with 1 µg/mL of Human/Mouse/Rat JIP1 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF4366) followed by HRP-conjugated Anti-Sheep IgG Secondary Antibody (Catalog # <A class=NoLineLink href=

Sheep Polyclonal
Species Human, Mouse, Rat
Applications WB

1 Publication
MyBPC3 Antibody
AF7439
Western blot shows lysates of human heart tissue. PVDF membrane was probed with 1 µg/mL of Sheep Anti-Human MyBPC3 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF7439) followed by HRP-conjugated Anti-Sheep IgG Secondary Antibody (Catalog # <a class=MyBPC3 was detected in immersion fixed paraffin-embedded sections of human heart using Sheep Anti-Human MyBPC3 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF7439) 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=NoLineLink href=

Sheep Polyclonal
Species Human
Applications WB, IHC

S100A10 Antibody [Unconjugated]
AF2377
Western blot shows lysates of mouse lung and MEF mouse embryonic feeder cells. PVDF membrane was probed with 0.1 µg/mL of Goat Anti-Mouse S100A10 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2377) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=NoLineLink href=S100A10 was detected in perfusion fixed frozen sections of mouse kidney using Goat Anti-Mouse S100A10 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2377) at 15 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

Goat Polyclonal
Species Mouse
Applications WB, Simple Western, IHC

12 Publications
TRPS1 Antibody [Unconjugated]
AF4838
Western blot shows lysates of MDA‑MB‑453 human breast cancer cell line and MCF‑7 human breast cancer cell line. PVDF membrane was probed with 1 µg/mL of Goat Anti-Human TRPS1 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF4838) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <A class=NoLineLink href=Simple Western lane view shows lysates of MCF‑7 human breast cancer cell line, loaded at 0.2 mg/mL. A specific band was detected for TRPS1 at approximately 191 kDa (as indicated) using 10 µg/mL of Goat Anti-Human TRPS1 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF4838) followed by 1:50 dilution of HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <A class=NoLineLink href=

Goat Polyclonal
Species Human
Applications WB, Simple Western

5 Publications
ALX4 Antibody (OTI6B3)
NBP2-45490
Western Blot: ALX4 Antibody (6B3) [NBP2-45490] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY ALX4.Immunocytochemistry/Immunofluorescence: ALX4 Antibody (6B3) [NBP2-45490] - Analysis of COS7 cells transiently transfected by pCMV6-ENTRY ALX4.

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

SLC35C1 Antibody
NBP2-49410
Immunohistochemistry-Paraffin: SLC35C1 Antibody [NBP2-49410] - Analysis in human small intestine and skeletal muscle tissues using NBP2-49410 antibody. Corresponding SLC35C1 RNA-seq data are presented for the same tissues.Immunocytochemistry/Immunofluorescence: SLC35C1 Antibody [NBP2-49410] - Immunofluorescent staining of human cell line A549 shows localization to the Golgi apparatus.

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

PHF21A Antibody
NBP2-88046
Western Blot: PHF21A Antibody [NBP2-88046] - Host: Rabbit. Target Name: PHF21A. Sample Type: Human Fetal Lung. Antibody Dilution: 1.0ug/mlWestern Blot: PHF21A Antibody [NBP2-88046] - WB Suggested Anti-PHF21A Antibody Titration: 0.2-1 ug/ml. ELISA Titer: 1:312500. Positive Control: HT1080 cell lysatePHF21A is supported by BioGPS gene expression data to be expressed in HT1080

Rabbit Polyclonal
Species Human
Applications WB

Recombinant Human SCN3A GST (N-Term) Protein
H00006328-Q01
12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human
Applications WB, ELISA, PA

Exostosin 1 Antibody
NBP3-03736
Western Blot: Exostosin 1 Antibody [NBP3-03736] - Analysis of extracts of various cell lines, using Exostosin 1 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.Immunocytochemistry/Immunofluorescence: Exostosin 1 Antibody [NBP3-03736] -Analysis of HeLa cells using EXT1 Rabbit pAb at dilution of 1:100 (40x lens). Blue: DAPI for nuclear staining.

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


Related Genes

Potocki-shaffer Syndrome has been researched against:

Related Pathways

Potocki-shaffer Syndrome has been linked to:

Related Diseases

Potocki-shaffer Syndrome has been studied in relation to diseases such as:

Alternate Names

Potocki-shaffer Syndrome is also known as potocki-shaffer syndrome, proximal 11p deletion syndrome, 11p11.2 deletion, chromosome 11p11.2 deletion syndrome, deletion of chromosome 11p11.2, deletion abnormality, p11pds, pss.