Home » Diseases » X-linked Dyskeratosis Congenita: Disease Bioinformatics
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X-linked Dyskeratosis Congenita: Disease Bioinformatics

X-linked Dyskeratosis Congenita is a rare disease that causes premature aging and is associated with abnormal or lacy skin coloring, poor nail health, lesions in the mucous membranes of the mouth, and bone marrow dysfunction. X-linked Dyskeratosis Congenita is caused by mutations in the genes responsible for making and maintaining telomeres, the ends of the chromosomes that stop the chromosomes from dividing too quickly, destructing, or sticking to other chromosomes. A person who has X-linked Dyskeratosis Congenita is more susceptible to developing leukemia, aplastic anemia, lung problems, bone marrow failure, and other cancers. A person is typically diagnosed with X-Linked Dyskeratosis Congenita as a child, but the severity of the disease has a broad spectrum. Because it is an x-linked disease that is passed down genetically, boys are more likely to have it than girls.

Top Research Reagents

We have 1285 products for the study of X-linked Dyskeratosis Congenita 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.

MPP1 Antibody (1E11-1G11)
H00004354-M01
Western Blot: MPP1 Antibody (1E11-1G11) [H00004354-M01] - Analysis of MPP1 expression in transfected 293T cell line by MPP1 monoclonal antibody (M01), clone 1E11-1G11.Lane 1: MPP1 transfected lysate (Predicted MW: 52.3 KDa).Lane 2: Non-transfected lysate.Immunocytochemistry/Immunofluorescence: MPP1 Antibody (1E11-1G11) [H00004354-M01] - Analysis of monoclonal antibody to MPP1 on HeLa cell . Antibody concentration 10 ug/ml.

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

2 Publications
IFI27 Antibody (CL14627)
NBP3-26876
Staining of human colon shows moderate cytoplasmic positivity in glandular cells.Staining of human skeletal muscle shows no positivity in myocytes as expected.

Mouse Monoclonal
Species Human
Applications IHC

RUVBL2 Antibody
NBP1-40354
Western Blot: RUVBL2 Antibody [NBP1-40354] - Whole cell lysate from HeLa (5, 15 and 50 mcg for WB; 1 mg for IP, 20% of IP loaded), 293T (T; 50 mcg), and mouse NIH3T3 (M; 50 mcg) cells. Antibodies: Affinity purified rabbit anti-RuvBL2 antibody used for WB at 0.1 mcg/ml (A) and 1 mcg/ml (B) and used for IP at 10 mcg/mg lysate. RuvBL2 was also immunoprecipitated by rabbit anti-RuvBL2 antibody NBP1-40355 which recognizes a downstream epitope.Immunohistochemistry-Paraffin: RUVBL2 Antibody [NBP1-40354] - Sample: FFPE section of human breast carcinoma. Antibody: Affinity purified rabbit anti- RuvBL2 used at a dilution of 1:1,000 (1ug/ml). Detection: DAB

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

     1 Review

2 Publications
Doublecortin Antibody
NBP1-72042
Western Blot: Doublecortin Antibody [NBP1-72042] - staining of Mouse fetal Brain lysate (35 ug protein in RIPA buffer). Antibody at 0.01 ug/mL. Primary incubation was 1 hour. Detected by chemiluminescence.Immunocytochemistry/Immunofluorescence: Doublecortin Antibody [NBP1-72042] - Immunofluorescence analysis of paraformaldehyde fixed KNRK cells, permeabilized with 0.15% Triton. Primary incubation 1hr (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (2 ug/mL), showing cytoplasmic staining. The nuclear stain is DAPI (blue). Negative control: Unimmunized goat IgG (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (2 ug/mL).

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

5 Publications
TRUB1 Antibody
NBP1-80866
Western Blot: TRUB1 Antibody [NBP1-80866] - Analysis in control (vector only transfected HEK293T lysate) and TRUB1 over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunocytochemistry/Immunofluorescence: TRUB1 Antibody [NBP1-80866] - Staining of human cell line U-2 OS shows localization to actin filaments. Antibody staining is shown in green.

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

2 Publications
DKC1 Antibody
NBP1-85156
Western Blot: DKC1 Antibody [NBP1-85156] - Lane 1: Marker [kDa] 206, 113, 82, 49, 32, 26, 18 Lane 2: Human cell line RT-4 Lane 3: Human cell line U-251MG sp Lane 4: Human cell line A-431 Lane 5: Human liver tissue Lane 6: Human tonsil tissueImmunohistochemistry-Paraffin: DKC1 Antibody [NBP1-85156] - Staining of human cerebral cortex shows strong nucleolar positivity in neuronal cells.

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

5 Publications
p53 Antibody (PAb 240) - BSA Free
NB200-103
Western Blot: p53 Antibody (PAb 240) [NB200-103] - Analysis of p53 in MCF7 and HeLa lystates. Image courtesy of anonymous customer product review.Immunocytochemistry/Immunofluorescence: p53 Antibody (PAb 240) [NB200-103] - PC12 cells were fixed in 4% paraformaldehyde for 10 minutes and permeabilized in 0.5% Triton X-100 in PBS for 5 minutes. The cells were incubated with anti-p53 Antibody (PAb 240) NB200-103 at 2 ug/ml overnight at 4C and detected with an anti-mouse Dylight 488 (Green) at a 1:1000 dilution for 60 minutes. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 40X objective.

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

     3 Reviews

42 Publications
TNIP1 Antibody
NBP1-89306
Western Blot: TNIP1 Antibody [NBP1-89306] - Analysis in U-87MG ATCC cells transfected with control siRNA, target specific siRNA probe #1 and #2,. Remaining relative intensity is presented. Loading control: Anti-GAPDH.Western Blot: TNIP1 Antibody [NBP1-89306] - Analysis using Anti-TNIP1 antibody NBP1-89306 (A) shows similar pattern to independent antibody NBP2-32705 (B).

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

TMED7 Antibody
NBP1-90949
Western Blot: TMED7 Antibody [NBP1-90949] - Analysis in human cell line CAPAN-2.Immunohistochemistry: Rabbit Polyclonal TMED7 Antibody [NBP1-90949] - Immunohistochemical staining of human liver shows strong cytoplasmic positivity in hepatocytes.

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

1 Publication
SHQ1 Antibody
NBP1-92388
Immunocytochemistry/Immunofluorescence: SHQ1 Antibody [NBP1-92388] - 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

1 Publication
WDR79 Antibody
NB100-68252
Western Blot: WDR79 Antibody [NB100-68252] - Depletion of WDR79 (TCAB1) reduced the cell proliferation in vitro. Protein level also significantly decreased after shWDR79 (TCAB1) lentivirus treatment. Image collected and cropped by CiteAb from the following publication (https://molecular-cancer.biomedcentral.com/articles/10.1186/1476-4598-13-180), licensed under a CC-BY license.Immunohistochemistry: WDR79 Antibody [NB100-68252] - WDR79 (TCAB1) was overexpressed in cell lines and in tissues of head and neck cancers. The typical IHC results (Left: WDR79 (TCAB1) positive, Right: WDR79 (TCAB1) negative) of WDR79 (TCAB1) in human NPC and Npi. Image collected and cropped by CiteAb from the following publication (https://molecular-cancer.biomedcentral.com/articles/10.1186/1476-4598-13-180), licensed under a CC-BY license.

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

     1 Review

10 Publications
TERT Antibody (2C4)
NB100-317
Western Blot: TERT Antibody (2C4) [NB100-317] - Increased levels of IFI16 protein in WI-38 cells reduce hTERT levels and inhibit telomerase activity. Total protein extracts prepared from WI-38 cells, either transfected with control (pCMV) vector (lane 1) or pCMV-IFI16 plasmid (lane 2), were subjected to immunoblotting using antibodies specific to the indicated proteins. Image collected and cropped by CiteAb from the following publication (https://dx.plos.org/10.1371/journal.pone.0008569), licensed under a CC-BY license.Immunohistochemistry-Paraffin: TERT Antibody (2C4) [NB100-317] - Human Pancreatic carcinoma showing strong staining of tumor cells.

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

26 Publications
Polypeptide GalNac Transferase 3/GALNT3 Antibody
AF7174
Western blot shows lysates of COLO 205 human colorectal adenocarcinoma cell line, MCF-7 human breast cancer cell line, and mouse testis tissue. PVDF membrane was probed with 0.5 µg/mL of Sheep Anti-Human Polypeptide GalNac Transferase 3/GALNT3 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF7174) followed by HRP-conjugated Anti-Sheep IgG Secondary Antibody (Catalog # <a class=Polypeptide GalNac Transferase 3/GALNT3 was detected in immersion fixed HeLa human cervical epithelial carcinoma cell line using Sheep Anti-Human Polypeptide GalNac Transferase 3/GALNT3 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF7174) at 15 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Sheep IgG Secondary Antibody (red; Catalog # <a class=

Sheep Polyclonal
Species Human
Applications WB, ICC

3 Publications
XIAP Antibody [Unconjugated]
AF8221
XIAP was detected in immersion fixed paraffin-embedded sections of human lymphoma using 5 µg/mL Goat Anti-Human/Mouse/Rat XIAP Antigen Affinity-purified Polyclonal Antibody (Catalog # AF8221) overnight at 4 °C. Tissue was stained with the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=XIAP was detected in immersion fixed paraffin-embedded sections of human breast cancer tissue using 15 µg/mL Goat Anti-Human/Mouse/Rat XIAP Antigen Affinity-purified Polyclonal Antibody (Catalog # AF8221) overnight at 4 °C. Tissue was stained with the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

Goat Polyclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, IHC

23 Publications
26S proteasome subunit 9 Antibody
NBP2-47560
Immunohistochemistry: 26S proteasome subunit 9 Antibody [NBP2-47560] - Staining of human testis using Anti-PSMD9 antibody NBP2-47560.Immunohistochemistry: 26S proteasome subunit 9 Antibody [NBP2-47560] - Staining of human kidney using Anti-PSMD9 antibody NBP2-47560.

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

Synaptic glycoprotein SC2 Antibody
NBP2-49230
Western Blot: Synaptic glycoprotein SC2 Antibody [NBP2-49230] - Analysis in control (vector only transfected HEK293T lysate) and TECR over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunocytochemistry/Immunofluorescence: Synaptic glycoprotein SC2 Antibody [NBP2-49230] - Immunofluorescent staining of human cell line U-251 MG shows localization to endoplasmic reticulum.

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

APCDD1 Antibody - BSA Free
NB110-92756
Knockdown Validated: APCDD1 Antibody - BSA Free [NB110-92756] - APCDD1 knockdown potently (C) inhibited cell proliferation. Error bars represent mean +/- SD of three replicates (*P < 0.05, **P < 0.01, ***P < 0.001). (E) A673 and SKNMC cells stably expressing shMEIS1 were transiently transfected with plasmid encoding APCDD1, and subjected to immunoblotting and MTT assays. Bars represent mean +/- SD of three replicates (**P < 0.01). Image collected and cropped by CiteAb from the following publication (https://academic.oup.com/nar/article/47/3/1255/5212009) licensed under a CC-BY license.Western Blot: APCDD1 Antibody [NB110-92756] - Detection of APCDD1 in human heart lysate

Rabbit Polyclonal
Species Human, Mouse, Chicken
Applications WB, KD

2 Publications
RNPC3 Antibody - BSA Free
NBP2-93867
Western Blot: RNPC3 Antibody [NBP2-93867] - Analysis of extracts of various cell lines, using RNPC3 . Exposure time: 60s.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB


Related Genes

X-linked Dyskeratosis Congenita has been researched against:

Related Pathways

X-linked Dyskeratosis Congenita has been linked to:

Related Diseases

X-linked Dyskeratosis Congenita has been studied in relation to diseases such as:

Related PTMs

X-linked Dyskeratosis Congenita has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

X-linked Dyskeratosis Congenita is also known as Zinsser-cole-engman Syndrome.