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Smith-magenis Syndrome: Disease Bioinformatics

Research of Smith-magenis Syndrome has been linked to Sleep Disorders, Haploinsufficiency, Congenital Abnormality, Cytogenetic Abnormality, Loss Of Chromosome 17. The study of Smith-magenis Syndrome has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Smith-magenis Syndrome include Circadian Rhythm, Secretion, Localization, Pathogenesis, Metaphase. These pathways complement our catalog of research reagents for the study of Smith-magenis Syndrome including antibodies and ELISA kits against RAI1, SMS, DOM3Z, ENDOU, S100A10.

Smith-magenis 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 Smith-magenis 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 913 products for the study of Smith-magenis Syndrome that can be applied to Flow Cytometry, Immunocytochemistry/Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

H00051168-Q01
12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human
Applications WB, ELISA, PA

NBP1-28745
Immunohistochemistry-Paraffin: RAI1 Antibody [NBP1-28745] - Human ovarian carcinoma. Antibody: Affinity purified rabbit anti- RAI1 used at a dilution of 1:1,000 (1ug/ml). Detection: DABImmunoprecipitation: RAI1 Antibody [NBP1-28745] - Samples: Whole cell lysate (5, 15 and 50 ug for WB; 1 mg for IP, 20% of IP loaded) from HeLa cells. Antibodies: Affinity purified rabbit anti-RAI1 antibody used for WB at 0.1 ug/ml (A) and 1 ug/ml (B) and used for IP at 10 ug/mg lysate. RAI1 was also immunoprecipitated by rabbit anti-RAI1 antibody BL6549, which recognizes a downstream epitope. Detection: Chemiluminescence with exposure times of 3 minutes (A) and 30 seconds (B).

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

NBP1-31528
Western Blot: GDI1 Antibody [NBP1-31528] - Sample (30 ug of whole cell lysate) A: Hep G2 10% SDS PAGE; antibody diluted at 1:1000.Immunohistochemistry-Paraffin: GDI1 Antibody [NBP1-31528] - Sample: Paraffin-embedded mouse lung. GDI1 antibody dilution: 1:500.

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

NBP1-32421
Western Blot: SRPR alpha Antibody [NBP1-32421] - Sample(30 ug of whole cell lysate) A:293T B:A431 7.5% SDS PAGE diluted at 1:1000Immunohistochemistry-Paraffin: SRPR alpha Antibody [NBP1-32421] - Paraffin-embedded GASTRIC CA, using antibody at 1:100 dilution.

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

NBP1-33509
Western Blot: DXO Antibody [NBP1-33509] - Sample (30 ug of whole cell lysate) A: Molt-4 B: Raji 10% SDS PAGE, antibody diluted at 1:500.Immunocytochemistry/Immunofluorescence: DXO Antibody [NBP1-33509] - Analysis of methanol-fixed HeLa, using antibody at 1:200 dilution.

Rabbit Polyclonal
Species Human
Applications WB, ICC/IF

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

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

NBP1-87925
Western Blot: Flightless I Antibody [NBP1-87925] - Lane 1: Marker  [kDa] 230, 130, 95, 72, 56, 36, 28, 17, 11.  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 tissueImmunocytochemistry/Immunofluorescence: Flightless I Antibody [NBP1-87925] - Staining of human cell line U-2 OS shows localization to nucleoplasm, cytosol & microtubule organizing center.

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

1 Publication
NBP2-00900
Western Blot: Spermine synthase Antibody (OTI3C9) [NBP2-00900] - HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY Spermine synthase (Right lane) cDNA for 48 hrs and lysed. Equivalent amounts of cell lysates (5 ug per lane) were separated by SDS-PAGE and immunoblotted with anti-Spermine synthase.Immunohistochemistry-Paraffin: Spermine synthase Antibody (OTI3C9) [NBP2-00900] - Staining of paraffin-embedded Human tonsil using anti-Spermine synthase mouse monoclonal antibody.

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

H00003996-M01
Western Blot: Lgl1 Antibody (5G2) [H00003996-M01] - Western Blot analysis of LLGL1 expression in Hela NE ( Cat # L013V3 ).ELISA: Lgl1 Antibody (5G2) [H00003996-M01] - Detection limit for recombinant GST tagged LLGL1 is approximately 0.03ng/ml as a capture antibody.

Mouse Monoclonal
Species Human, Mouse
Applications WB, ELISA, ICC/IF

     1 Review

3 Publications
AF5430
Western blot shows lysates of mouse plasma. PVDF membrane was probed with 1 µg/mL of Sheep Anti-Mouse Complement Factor D/Adipsin Antigen Affinity-purified Polyclonal Antibody (Catalog # AF5430) followed by HRP-conjugated Anti-Sheep IgG Secondary Antibody (Catalog # <A class=NoLineLink href=

Sheep Polyclonal
Species Mouse
Applications WB, IP

     1 Review

6 Publications
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

11 Publications
1129-ER
1 μg/lane of Recombinant Human ErbB2 Fc Chimera was resolved with SDS-PAGE under reducing (R) and non-reducing (NR) conditions and visualized by silver staining, showing major bands at 125-130 kDa and  220-250 kDa, respectively.


Species Human
Applications BA

     10 Reviews

53 Publications
MAB9080
Western blot shows lysate of COLO 205 human colorectal adenocarcinoma cell line. PVDF membrane was probed with 0.5 µg/mL of Mouse Anti-Human Desmoplakin Monoclonal Antibody (Catalog # MAB9080) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <A class=NoLineLink href=

Mouse Monoclonal
Species Human
Applications WB

1 Publication
NBP2-80456
Western Blot: COP9 Antibody (JE47-48) [NBP2-80456] - Analysis of COPS3/CSN3 on different lysates. Proteins were transferred to a PVDF membrane and blocked with 5% BSA in PBS for 1 hour at room temperature. The primary antibody (1:500) was used in 5% BSA at room temperature for 2 hours. Goat Anti-Rabbit IgG - HRP Secondary Antibody at 1:5,000 dilution was used for 1 hour at room temperature. Positive control: Lane 1: Human skeletal muscle tissue lysate Lane 2: Rat bone marrow lysate.Immunocytochemistry/Immunofluorescence: COP9 Antibody (JE47-48) [NBP2-80456] - ICC staining of COPS3/CSN3 in HCT116 cells (green). Formalin fixed cells were permeabilized with 0.1% Triton X-100 in TBS for 10 minutes at room temperature and blocked with 1% Blocker BSA for 15 minutes at room temperature. Cells were probed with the primary antibody (1:500) for 1 hour at room temperature, washed with PBS. Alexa Fluor 488 Goat anti-Rabbit IgG was used as the secondary antibody at 1:100 dilution. The nuclear counter stain is DAPI (blue).

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

NBP2-87693
Western Blot: Kir2.2 Antibody [NBP2-87693] - Host: Rabbit. Target Name: KCNJ12. Sample Type: Human Adult Placenta. Antibody Dilution: 1.0ug/mlImmunohistochemistry-Paraffin: Kir2.2 Antibody [NBP2-87693] - Rabbit Anti-KCNJ12 antibody. Formalin Fixed Paraffin Embedded Tissue: Human Adult Skeletal muscle. Observed Staining: Cytoplasm in hepatocytes. Primary Antibody Concentration: 1:600. Secondary Antibody: Donkey anti-Rabbit-Cy3. Se

Rabbit Polyclonal
Species Human
Applications WB, IHC-P

NBP2-93335
Western Blot: ZNF179 Antibody [NBP2-93335] - Western blot analysis of extracts of Rat kidney, using ZNF179 antibody (NBP2-93335) 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: 60s.Immunocytochemistry/Immunofluorescence: ZNF179 Antibody [NBP2-93335] - Analysis of L929 cells using ZNF179 at dilution of 1:100. Blue: DAPI for nuclear staining.

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

NB110-59086
Immunohistochemistry: PMP22 Antibody (Hu1) [NB110-59086] - Staining of PMP22 (brown) in dorsal root ganglion and spinal roots in 20 week fetal spinal cord preparation from rhesus monkey.

Mouse Monoclonal
Species Human, Primate, Bovine (Negative)
Applications WB, IHC, IHC-P

1 Publication
H00005729-B01P
Western Blot: PTGDR Antibody [H00005729-B01P] - Analysis of PTGDR expression in transfected 293T cell line by PTGDR polyclonal antibody.  Lane 1: PTGDR transfected lysate(39.6 KDa). Lane 2: Non-transfected lysate.Flow Cytometry: PTGDR Antibody [H00005729-B01P] - Analysis of negative control 293 cells (Black) and PTGDR expressing 293 cells (Green) using PTGDR purified mouse polyclonal antibody.

Mouse Polyclonal
Species Human
Applications WB, Flow, ICC/IF

2 Publications

Related Genes

Smith-magenis Syndrome has been researched against:

Alternate Names

Smith-magenis Syndrome is also known as smith-magenis syndrome, sms, chromosome 17p11.2 deletion syndrome, chromosome 17p deletion syndrome, deletion 17p syndrome, partial monosomy 17p, deletion abnormality, chromosome deletion, 17p11.2 monosomy, del(17)(p11.2), 17p- syndrome, p11.2, del, 17.