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Muscular Dystrophy, Facioscapulohumeral: Disease Bioinformatics

Facioscapulohumeral muscular dystrophy is a disorder characterized by weakness and atrophy in the muscles of the face, upper arms, and shoulders. Like other forms of muscular dystrophy, individuals with facioscapulohumeral muscular dystrophy usually first exhibit symptoms during infancy or childhood, and the symptoms slowly worsen and spread to other parts of the body. Researchers know that a deletion in the D4Z4 gene on the end of chromosome 4 causes facioscapulohumeral muscular dystrophy, but they also suspect that there are other genetic factors that contribute. Facioscapulohumeral muscular dystrophy has no cure, but most individuals with the disorder have normal life spans.

Top Research Reagents

We have 1538 products for the study of Muscular Dystrophy, Facioscapulohumeral that can be applied to Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Alkaline Phosphatase/ALPP Antibody (8B6) - BSA Free
NB110-3638
Immunocytochemistry/Immunofluorescence: Alkaline Phosphatase/ALPP Antibody (8B6) [NB110-3638] - Representative montage images are shown for control dissociated DRG culture. (B) Dissociated DRGs cultures exposed to conditioned medium from alkaline phosphatase-expressing rat GRPs. Image collected and cropped by CiteAb from the following publication (eneuro.org/content/4/1/ENEURO.0171-16.2017), licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: Alkaline Phosphatase/ALPP Antibody (8B6) [NB110-3638] - analysis of ALPP in MDA-MB-231 cells using an anti-ALPP antibody (blue - cell membrane, green - ALPP). Image from verified customer review.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, ELISA, Flow

     1 Review

15 Publications
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
PDLIM3 Antibody (HL2075) - Azide and BSA Free
NBP3-25358
Immunohistochemistry-Paraffin: PDLIM3 Antibody (HL2075) - Azide and BSA Free [NBP3-25358] - ALP/PDLIM3 antibody [HL2075] detects ALP/PDLIM3 protein at cytoplasm by immunohistochemical analysis. Sample: Paraffin-embedded mouse muscle. ALP/PDLIM3 stained by ALP/PDLIM3 antibody [HL2075] (NBP3-25358) diluted at 1:100. Antigen Retrieval: Citrate buffer, pH 6.0, 15 minImmunohistochemistry-Paraffin: PDLIM3 Antibody (HL2075) - Azide and BSA Free [NBP3-25358] - ALP/PDLIM3 antibody [HL2075] detects ALP/PDLIM3 protein at cytoplasm by immunohistochemical analysis. Sample: Paraffin-embedded rat muscle. ALP/PDLIM3 stained by ALP/PDLIM3 antibody [HL2075] (NBP3-25358) diluted at 1:100. Antigen Retrieval: Citrate buffer, pH 6.0, 15 min

Rabbit Monoclonal
Species Human, Mouse, Rat
Applications WB, IHC, IHC-P

MyoD Antibody (5.8A) - BSA Free
NB100-56511
Immunocytochemistry/Immunofluorescence: MyoD Antibody (5.8A) [NB100-56511] - Human myoblasts were stained with MyoD1 antibody, diluted 1:200. ICC/IF image submitted by a verified customer review.Western Blot: MyoD Antibody (5.8A) [NB100-56511] - Insuline-like growth factor (IGF1) antagonized the effects of miR-106a-5p on myogenic differentiation in C2C12. All data were collected from C2C12 myotubes 5 d post differentiation. Western-blot analysis of myogenic regulatory factors (MyoD, MyoG, MyHC) in cells; (H) The statistical results of Figure 3G. Data were presented as mean +/- SEM. n = 3 per group. * p < 0.05, ** p < 0.01. Image collected and cropped by CiteAb from the following publication (https://www.mdpi.com/2073-4425/9/7/333/htm) licensed under a CC-BY license. anti-MyoG (catalog# NB100-56510)

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

     2 Reviews

27 Publications
PITX1 Antibody (5G4)
H00005307-M01
Western Blot: PITX1 Antibody (5G4) [H00005307-M01] - Analysis of PITX1 expression in transfected 293T cell line by PITX1 monoclonal antibody (M01), clone 5G4.Lane 1: PITX1 transfected lysate(34.1 KDa).Lane 2: Non-transfected lysate.Western Blot: PITX1 Antibody (5G4) [H00005307-M01] - Analysis of PITX1 over-expressed 293 cell line, cotransfected with PITX1 Validated Chimera RNAi ( Cat # H00005307-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with PITX1 monoclonal antibody (M01), clone 5G4 (Cat # H00005307-M01 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.

Mouse Monoclonal
Species Human
Applications WB, ELISA, IHC

3 Publications
BRD2 Antibody
NBP1-30475
Western Blot: BRD2 Antibody [NBP1-30475] - Whole cell lysate (50 ug) from NIH 3T3 and TCMK-1 cells prepared using NETN lysis buffer. Antibody: Affinity purified rabbit anti-BRD2 antibody used for WB at 0.1 ug/ml. Detection:Chemiluminescence with an exposure time of 30 seconds.Immunocytochemistry/Immunofluorescence: BRD2 Antibody [NBP1-30475] - Formaldehyde-fixed asynchronous HeLa cells. Antibody: Affinity purified rabbit anti- BRD2 used at a dilution of 1:100 (2 ug/mL) (left) and rabbit anti-BRD2 recombinant monoclonal used at a dilution of 1:20 (right). Detection: Red-fluorescent goat anti-rabbit IgG cross-adsorbed Antibody DyLight 594 conjugated.

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

     1 Review

3 Publications
Choline kinase alpha Antibody
NBP1-85630
Western Blot: Choline kinase alpha Antibody [NBP1-85630] - Analysis in human cell lines SK-MEL-30 and U-251MG using anti-CHKA antibody. Corresponding CHKA RNA-seq data are presented for the same cell lines. Loading control: anti-HDAC1.Immunohistochemistry-Paraffin: Choline kinase alpha Antibody [NBP1-85630] - Staining of human gastrointestinal shows moderate cytoplasmic positivity in glandular cells.

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

1 Publication
ASRGL1 Antibody
NBP1-89133
Western Blot: ASRGL1 Antibody [NBP1-89133] - Analysis in control (vector only transfected HEK293T lysate) and ASRGL1 over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunocytochemistry/Immunofluorescence: ASRGL1 Antibody [NBP1-89133] - Staining of human cell line U-2 OS shows localization to nucleoplasm & microtubules. Antibody staining is shown in green.

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

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
PRPF6 Antibody
NBP1-92298
Immunohistochemistry-Paraffin: PRPF6 Antibody [NBP1-92298] - Staining in human fallopian tube and pancreas tissues using anti-PRPF6 antibody. Corresponding PRPF6 RNA-seq data are presented for the same tissues.Western Blot: PRPF6 Antibody [NBP1-92298] - 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

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

SOD1/Cu-Zn SOD Antibody
NBP2-24915
Western Blot: SOD1/Cu-Zn SOD Antibody [NBP2-24915] - Bovine ocular fluid. Antibody at 1:1000. Western blot image submitted by a verified customer review.Immunohistochemistry-Paraffin: SOD1/Cu-Zn SOD Antibody [NBP2-24915] - Analysis of Superoxide Dismutase 1 in FFPE human liver tissue using an isotype control (top) and NBP2-24915 (bottom) at 5 ug/ml.

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

     3 Reviews

20 Publications
DMPK Antibody (713931)
MAB6967
Western blot shows lysates of human heart tissue. PVDF membrane was probed with 2 µg/mL of Mouse Anti-Human DMPK Monoclonal Antibody (Catalog # MAB6967) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <a class=

Mouse Monoclonal
Species Human
Applications WB

SLPI [HRP]
DPI00
N/A SLPI [HRP]N/A SLPI [HRP]


Species Human
Applications ELISA

37 Publications
CCL27/CTACK [HRP]
DCC270
N/A CCL27/CTACK [HRP]N/A CCL27/CTACK [HRP]


Species Human
Applications ELISA

10 Publications
FRG2A Antibody
NBP2-46754
Immunohistochemistry: FRG2B Antibody [NBP2-46754] - Staining of human pancreas shows moderate cytoplasmic positivity in exocrine glandular cells.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

FRG1 Antibody (4A5)
H00002483-M01
Western Blot: FRG1 Antibody (4A5) [H00002483-M01] - Analysis of FRG1 expression in transfected 293T cell line by FRG1 monoclonal antibody (M01), clone 4A5.Lane 1: FRG1 transfected lysate(29 KDa).Lane 2: Non-transfected lysate.Immunocytochemistry/Immunofluorescence: FRG1 Antibody (4A5) [H00002483-M01] - Analysis of monoclonal antibody to FRG1 on HeLa cell. Antibody concentration 35 ug/ml.

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

2 Publications
DUX4/DUX4c Antibody (2143C) [Unconjugated]
MAB95351
Western blot shows lysates of C2C12 mouse myoblast cell line transfected with human DUX4 untreated (-) or treated (+) with 100 ng/mL Doxycycline for overnight. PVDF membrane was probed with 1 µg/mL of Rabbit Anti-Human DUX4 Monoclonal Antibody (Catalog # MAB95351) followed by HRP-conjugated Anti-Rabbit IgG Secondary Antibody (Catalog # <a class=

Rabbit Monoclonal
Species Human
Applications WB

5 Publications
Choline Kinase beta [Unconjugated]
8184-CK


Species Human
Applications EnzAct

Adenine Nucleotide Translocase 1 Antibody - Azide and BSA Free
NBP2-92642
Western Blot: Adenine Nucleotide Translocase 1 Antibody [NBP2-92642] - Analysis of extracts of various cell lines, using SLC25A4/ANT1 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.Detection: ECL Basic Kit. Exposure time: 10s.Immunocytochemistry/Immunofluorescence: Adenine Nucleotide Translocase 1 Antibody [NBP2-92642] - Analysis of PC-12 cells using SLC25A4/ANT1 Rabbit pAb at dilution of 1:200 (40x lens). Blue: DAPI for nuclear staining.

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


Related Genes

Muscular Dystrophy, Facioscapulohumeral has been researched against:

Related Pathways

Muscular Dystrophy, Facioscapulohumeral has been linked to:

Related Diseases

Muscular Dystrophy, Facioscapulohumeral has been studied in relation to diseases such as:

Related PTMs

Muscular Dystrophy, Facioscapulohumeral has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Muscular Dystrophy, Facioscapulohumeral is also known as Atrophy, Facioscapulohumeral, Dystrophy, Facioscapulohumeral Muscular, Facioscapulohumeral Muscular Dystrophies, Facioscapulohumeral Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy.