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Shwachman Syndrome: Disease Bioinformatics

Research of Shwachman Syndrome has been linked to Depressive Disorder, Growth Disorders, Neoplasms, Dwarfism, Malignant Neoplasms. The study of Shwachman Syndrome has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Shwachman Syndrome include Secretion, Transport, Proteolysis, Localization, Translation. These pathways complement our catalog of research reagents for the study of Shwachman Syndrome including antibodies and ELISA kits against GROWTH HORMONE, IGF1, GH1, GGH, SLC17A5.

Top Research Reagents

We have 2949 products for the study of Shwachman Syndrome that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Bestrophin 1 Antibody (E6-6) - BSA Free
NB300-164
Western Blot: Bestrophin 1 Antibody (E6-6) - BSA Free [NB300-164] - Western blot analysis of the normal and mutant human Best1 protein in transiently transfected MDCK cells. Best1 proteins are detectable as a 68 kDa band in all transfected cells, but not in non-transfected controls (MDCK lane). Actin bands are shown to indicate equal loading of cell lysates. Image collected and cropped by CiteAb from the following publication (https://www.mdpi.com/1422-0067/14/7/15121), licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: Bestrophin 1 Antibody (E6-6) - BSA Free [NB300-164] - X-Z confocal single image scan of transiently transfected cells with different BEST1 cDNA constructs showing mislocalization of mutants Y85H, Q96R, L100R and Y227N. Cells were stained for Best1 (green), beta-catenin (red) and nuclei (blue). Scale bar = 10 um. Image collected and cropped by CiteAb from the following publication (https://www.mdpi.com/1422-0067/14/7/15121), licensed under a CC-BY license.

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

     1 Review

49 Publications
PRDM10 Antibody
NBP1-81427
Western Blot: PRDM10 Antibody [NBP1-81427] - Analysis in human cell line Daudi.Immunocytochemistry/Immunofluorescence: PRDM10 Antibody [NBP1-81427] - Staining of human cell line A-431 shows localization to nucleoplasm, nucleoli fibrillar center & vesicles. Antibody staining is shown in green.

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

2 Publications
Glutaminyl-peptide Cyclotransferase/QPCT Antibody
NBP1-81838
Immunohistochemistry-Paraffin: Glutaminyl-peptide Cyclotransferase/QPCT Antibody [NBP1-81838] - Staining in human adrenal gland and liver tissues using anti-QPCT antibody. Corresponding QPCT RNA-seq data are presented for the same tissues.Western Blot: Glutaminyl-peptide Cyclotransferase/QPCT Antibody [NBP1-81838] - Analysis in human cell line SK-MEL-30.

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

1 Publication
Dystrophin Antibody
NBP1-89953
Immunohistochemistry-Paraffin: Dystrophin Antibody [NBP1-89953] - Staining in human skeletal muscle and tonsil tissues . Corresponding DMD RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: Dystrophin Antibody [NBP1-89953] - Staining of human heart muscle shows strong membranous positivity in myocytes.

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

4 Publications
gamma-glutamyl hydrolase Antibody
NBP1-90927
Western Blot: gamma-glutamyl hydrolase Antibody [NBP1-90927] - Analysis in control (vector only transfected HEK293T lysate) and GGH over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunohistochemistry-Paraffin: gamma-glutamyl hydrolase Antibody [NBP1-90927] - Staining of human skeletal muscle shows very weak cytoplsmic positivity in myocytes.

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

1 Publication
Fibronectin Antibody - BSA Free
NBP1-91258
Western Blot: Fibronectin Antibody - BSA Free [NBP1-91258] - VSOP observed in perivascular-restricted spinal cord lesions with intact BBB. Immunostaining for laminin (brown) shows vascular endothelium and glia limitans of a perivascular lesion, along with infiltrating cells and VSOP (blue). Image collected and cropped by CiteAb from the following publication (https://asn.sagepub.com/lookup/doi/10.1042/AN20120081), licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: Fibronectin Antibody - BSA Free [NBP1-91258] - NIH3T3 cells were fixed in 4% paraformaldehyde for 10 minutes and permeabilized in 0.05% Triton X-100 in PBS for 5 minutes. The cells were incubated with anti- NBP1-91258 at 1 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:1000 dilution for 60 minutes. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 100X objective and digitally deconvolved.

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

     11 Reviews

56 Publications
RanGAP1 Antibody (OTI1B4)
NBP2-02623
Western Blot: RanGAP1 Antibody (1B4) [NBP2-02623] Analysis of extracts (35ug) from 9 different cell lines by using anti-RanGAP1 monoclonal antibody.Immunocytochemistry/Immunofluorescence: RanGAP1 Antibody (1B4) [NBP2-02623] - Staining of COS7 cells transiently transfected by pCMV6-ENTRY RanGAP1.

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

Sialin/SLC17A5 Antibody
NBP2-20383
Western Blot: SLC17A5 Antibody [NBP2-20383] - Sample (30 ug of whole cell lysate) A: Jurkat 10% SDS PAGE gel, diluted at 1:1000.Immunocytochemistry/Immunofluorescence: SLC17A5 Antibody [NBP2-20383] - Sample: HepG2 cells were fixed in -20C 100% MeOH for 5 min. Green: SLC17A5 protein stained by SLC17A5 antibody diluted at 1:500. Blue: Hoechst 33343 staining.

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

Plasminogen Antibody
NB600-930
Western Blot: Plasminogen Antibody [NB600-930] - Lane 1: Plasminogen. Lane 2: None. Load: 50 ng per lane. Primary antibody: Plasminogen primary antibody at 1:1,000 overnight at 4C. Secondary antibody: Peroxidase goat secondary antibody at 1:40,000 for 60 min at RT. Blocking: incubated with blocking buffer for 30 min at RT. Predicted/Observed size: 91 kDa, 91 kDa for Plasminogen. Other band(s): None.Western Blot: Plasminogen Antibody [NB600-930] - Detection of Plasminogen under reducing (R) and non-reducing (NR) conditions. Reduced samples of purified target proteins contained 4% BME and were boiled for 5 minutes. Samples of 1ug of protein per lane were run by SDS-PAGE. Protein was transferred to nitrocellulose and probed with 1:3000 dilution of primary antibody. Detection shown was using Dylight 649 conjugated Donkey anti goat 1 hr RT.

Goat Polyclonal
Species Human, Rat
Applications WB, ELISA

     2 Reviews

6 Publications
POMC Antibody
NB100-1533
Immunohistochemistry: POMC Antibody [NB100-1533] - Representative confocal images of POMC in POMC-transfected WT and Sel1L-/- N2a cells. White arrows point to POMC-containing secretory granules, while yellow arrows point to perinuclear POMC. KDEL marks the ER. Representative data from at least 2 independent experiments are shown. Image collected and cropped by CiteAb from the following publication (jci.org/articles/view/96420), licensed under a CC-BY license.Flow Cytometry: POMC Antibody [NB100-1533] - Flow cytometric analysis of paraformaldehyde fixed A431 cells (blue line), permeabilized with 0.5% Triton. Primary incubation 1hr (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (1 ug/mL). IgG control: Unimmunized goat IgG (black line) followed by Alexa Fluor 488 secondary antibody.

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

10 Publications
Growth Hormone R Antibody
AF1360
Growth Hormone R/GHR was detected in perfusion fixed frozen sections of mouse liver using Mouse Growth Hormone R/GHR Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1360) 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, IHC

8 Publications
Growth Hormone Antibody [Unconjugated]
AF1067
Western blot shows lysates of human, mouse, and rat pituitary gland tissue. PVDF membrane was probed with 0.5 µg/mL of Goat Anti-Human Growth Hormone Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1067) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Growth Hormone was detected in immersion fixed paraffin-embedded sections of human pituitary using Goat Anti-Human/Mouse/Rat Growth Hormone Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1067) at 10 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 Human, Mouse, Rat
Applications WB, ELISA, IHC

15 Publications
Insulin Antibody (182410) [Unconjugated]
MAB1417
Insulin was detected in immersion fixed beta TC-6 mouse beta cell insulinoma cell line using Human/Mouse/Bovine Insulin Monoclonal Antibody (Catalog # MAB1417) at 10 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Rat IgG Secondary Antibody (red; Catalog # <a class=Insulin was detected in immersion fixed paraffin-embedded sections of human pancreas using Rat Anti-Human/Mouse/Bovine Insulin Monoclonal Antibody (Catalog # MAB1417) at 0.5 µg/mL for 1 hour at room temperature followed by incubation with the Anti-Rat IgG VisUCyte™ HRP Polymer Antibody (<a class=

Rat Monoclonal
Species Human, Mouse, Bovine
Applications IHC, CyTOF-ready, ICC

24 Publications
Myosin Heavy Chain Antibody (MF20) [Unconjugated]
MAB4470
Myosin Heavy Chain was detected in immersion fixed C2C12 mouse myoblast cell line using Mouse Anti-Human Myosin Heavy Chain Monoclonal Antibody (Catalog # MAB4470) at 10 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Mouse IgG Secondary Antibody (red; Catalog # <a class= Myosin Heavy Chain was detected in immersion fixed paraffin-embedded sections of human skeletal muscle using Mouse Anti-Myosin Heavy Chain Monoclonal Antibody (Catalog # MAB4470) at 5 µg/mL for 1 hour at room temperature followed by incubation with the Anti-Mouse IgG VisUCyte™ HRP Polymer Antibody (Catalog # <a class=

Mouse Monoclonal
Species Multi-Species
Applications WB, IHC, ICC

     1 Review

158 Publications
Albumin Antibody (188835) [Unconjugated] - Serum
MAB1455
Western blot shows lysate of human liver tissue. PVDF membrane was probed with 1 µg/mL of Mouse Anti-Human Serum Albumin Monoclonal Antibody (Catalog # MAB1455) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <a class=Albumin was detected in immersion fixed BG01V human embryonic stem cells differentiated to hepatocytes using Mouse Anti-Human Serum Albumin Monoclonal Antibody (Catalog # MAB1455) at 10 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Mouse IgG Secondary Antibody (red; Catalog # <a class=

Mouse Monoclonal
Species Human
Applications WB, Simple Western, IHC

     3 Reviews

54 Publications
IGFBP-3 [HRP]
DGB300
N/A IGFBP-3 [HRP]N/A IGFBP-3 [HRP]


Species Human
Applications ELISA

46 Publications
LIGHT/TNFSF14 [Unconjugated]
664-LI
<P align=left>Recombinant Human LIGHT/TNFSF14 (Catalog # 664-LI) stimulates cell proliferation in HUVEC human umbilical vein endothelial cells. The ED<SUB>50</SUB> is 1-4 ng/mL.</P><p align=


Species Human
Applications BA

21 Publications
IGF-I/IGF-1 [Unconjugated]
291-G1
Recombinant Human IGF-I/IGF-1 (Catalog # 291-G1) stimulates proliferation in the MCF-7 human breast cancer cell line. The ED<sub>50</sub> for this effect is 0.3‑1.5 ng/mL.1 μg/lane of Recombinant Human IGF-I/IGF-1 was resolved with SDS-PAGE under reducing (R) conditions and visualized by silver staining, showing a single band at 7 kDa.


Species Human
Applications BA

217 Publications
Lysozyme Antibody - BSA Free
NBP2-61118
Immunocytochemistry/Immunofluorescence: Lysozyme Antibody [NBP2-61118] - NIH3T3 cells were fixed and permeabilized for 10 minutes using -20C MeOH. The cells were incubated with anti-Lysozyme NBP2-61118 at 2 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:1000 dilution for 60 minutes. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 100X objective and digitally deconvolved.Western Blot: Lysozyme Antibody [NBP2-61118] - Total protein from human cell lines THP-1 and HepG2, human stomach and kidney as well as mouse kidney was separated on a 4-20% gel by SDS-PAGE, transferred to 0.2 um PVDF membrane and blocked in 5% non-fat milk in TBST. The membrane was probed with 2.0 ug/ml anti-Lysozyme in 5% non-fat milk in TBST and detected with an anti-rabbit HRP secondary antibody using chemiluminescence.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, Simple Western, Flow

7 Publications

Related Genes

Shwachman Syndrome has been researched against:

Related Pathways

Shwachman Syndrome has been linked to:

Related Diseases

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

Related PTMs

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

Alternate Names

Shwachman Syndrome is also known as Metaphyseal Chondrodysplasia With Pancreatic Insufficiency And Neutropenia, Pancreatic Insufficiency And Bone Marrow Dysfunction, Schwachman's Syndrome, Schwachman-diamond Syndrome, Sds.