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Bloom Syndrome: Disease Bioinformatics

Bloom Syndrome, otherwise known as Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema, is a hereditary disorder identified by short stature, sun-sensitive skin changes, an increased risk of cancer, and other related health problems. Bloom Syndrome is most commonly seen in people of Central and Eastern European Jewish background, which occurs in about 1 in 50,000 people however Bloom Syndrome can affect men or women and is diagnosed using blood samples. This disorder is not life-threatening itself however the elevated rate of mutation in Bloom Syndrome results in a high risk of cancer in affected individuals.

Top Research Reagents

We have 1794 products for the study of Bloom Syndrome 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.

RECQ1 Antibody
NB100-619
Western Blot: RECQ1 Antibody [NB100-619] - Whole cell lysate (50 ug) from HeLa and 293T cells prepared using NETN lysis buffer. Affinity purified rabbit anti-RecQ1 antibody NB100-619 used for WB at 0.1 ug/mL. Detection: Chemiluminescence with an exposure time of 1 second.Immunohistochemistry: RECQ1 Antibody [NB100-619] - Sample: FFPE section of human ovarian carcinoma. Antibody: Affinity purified rabbit anti- RecQ1 at 1:5000 (0.2 ug/mL). Detection: DAB

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

     3 Reviews

2 Publications
Histone H2AX [p Ser139] Antibody
NB100-384
Detection of Human and Mouse Histone H2AX [p Ser139] by Western Blot. Samples: Nuclear extract (50 ug) from human HEK293, human melanoma (G361), mouse wildtype embryonic fibroblasts (+/+) or mouse H2AX knockout embryonic fibroblasts (-/-). Antibody: Affinity purified rabbit Histone H2AX [p Ser139] antibody NB100-384 used at 0.1 ug/ml. Detection: Chemiluminescence with 30 second exposure. (NCS, neocarzinostatin - 200 ng/ml, 30 min). Bands appear at an observed molecular weight of ~15 kDa.Samples: Neocarzinostatin treated asynchronous HeLa cells (left) and untreated asynchronous HeLa cells (right) . Antibody: Affinity purified rabbit Histone H2AX [p Ser139] used at a dilution of 1:5,000 (0.2ug/ml). Detection: Red fluorescent Anti-rabbit IgG-DyLight 594 used at a dilution of 1:100.

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

     1 Review

162 Publications
MeCP2 Antibody
NB100-56326
Western Blot: MeCP2 Antibody [NB100-56326] - Analysis of MeCP2 in HeLa cell lysate using this antibody.Immunocytochemistry/Immunofluorescence: MeCP2 Antibody [NB100-56326] - This antibody was tested in A431 cells at a 1:200 dilution against Dylight 488 (Green). Alpha tubulin and nuclei were counterstained against Dylight 568 (Red) and DAPI (Blue), respectively.

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

1 Publication
Topoisomerase III alpha Antibody
NBP3-41251
Immunohistochemistry-Paraffin: Topoisomerase III alpha Antibody [NBP3-41251] - DAB staining on IHC-P; Samples: Human Glioma Tissue; Primary Ab: 20ug/ml NBP3-41251; Second Ab: 2ug/mL HRP-Linked Caprine Anti-Rabbit IgG Polyclonal AntibodyWestern Blot: Topoisomerase III alpha Antibody [NBP3-41251] - Sample: Recombinant Topoisomerase III alpha, Human.

Rabbit Polyclonal
Species Human
Applications WB, IHC

Nbs1 Antibody
NB100-143
Knockout Validated: Nbs1 Antibody [NB100-143] - Lysates of HeLa human cervical epithelial carcinoma parental cell line and Nbs1 knockout (KO) HeLa cell line. PVDF membrane was probed with 1:1000 of Rabbit Anti-Human Polyclonal [NB100-143] followed by HRP-conjugated Anti-Rabbit IgG Secondary Antibody (HAF008). Specific band was detected for Nbs1 at approximately 95 kDa (as indicated) in the parental HeLa cell line, but is not detectable in the knockout HeLa cell line. This experiment was conducted under reducing conditions.Western Blot: Nbs1 Antibody [NB100-143] - Western Blot with Nbs1 Antibody [NB100-143]. KSHV LANA recruits MRN (Mre11-Rad50-NBS1) complex. Co-immunoprecipitation of endogenous LANA and MRN proteins in BC3 cells. Cells were lysed using TBS-T buffer and the cell lysate was incubated with benzonase. After centrifugation, supernatant was incubated overnight with anti-LANA or IgG-control beads. The precipitated complexes were analyzed for the presence of endogenous Rad50, Mre11 and NBS1 by SDS-PAGE and immunoblotting. Image collected and cropped by CiteAb from the following publication (https://dx.plos.org/10.1371/journal.ppat.1006335), licensed under a CC-BY license.

Rabbit Polyclonal
Species Human, Mouse, Hamster
Applications WB, ChIP, ELISA

     8 Reviews

204 Publications
PML Protein Antibody - BSA Free
NB100-59787
Immunohistochemistry-Paraffin: PML Protein Antibody [NB100-59787] - IHC analysis of a formalin fixed and paraffin embedded tissue section of human stomach using 1:50 dilution of PML antibody. The signal was developed using HRP-labeled secondary with DAB reagent followed by hematoxylin counterstaining. This antibody generated an expected strong nuclear staining in most of the cells in the glandular as well as the connective tissue. The cells showed some cytoplasmic signal also which was much weaker than the nuclear staining.Immunohistochemistry: PML Protein Antibody [NB100-59787] - Sample: FFPE section of human prostate carcinoma. Antibody: Affinity purified rabbit anti- PML used at a dilution of 1:1,000 (0.2ug/ml). Detection: DAB

Rabbit Polyclonal
Species Human, Mouse
Applications WB, Flow, IB

     1 Review

42 Publications
RECQL5 Antibody
NBP1-83438
Immunocytochemistry/Immunofluorescence: RECQL5 Antibody [NBP1-83438] - Staining of human cell line A-431 shows localization to nucleus & cytosol. Antibody staining is shown in green.Immunohistochemistry-Paraffin: RECQL5 Antibody [NBP1-83438] - Staining of human placenta shows no positivity in stromal cells as expected.

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

2 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
Blooms Syndrome Protein Blm Antibody
NBP1-89929
Immunocytochemistry/Immunofluorescence: Blooms Syndrome Protein Blm Antibody [NBP1-89929] - Staining of human cell line A-431 shows positivity in nucleus and cytoplasm. Antibody staining is shown in green.Immunohistochemistry-Paraffin: Blooms Syndrome Protein Blm Antibody [NBP1-89929] - Staining of human stomach shows strong nuclear positivity in glandular cells.

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

     1 Review

4 Publications
ENOSF1 Antibody
NBP2-13962
Western Blot: ENOSF1 Antibody [NBP2-13962] - 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: ENOSF1 Antibody [NBP2-13962] - Staining in human kidney and ovary tissues using anti-ENOSF1 antibody. Corresponding ENOSF1 RNA-seq data are presented for the same tissues.

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

BRCA2 Antibody (234403) [Unconjugated]
MAB2476
Western blot shows lysates of Capan-1 human pancreatic adenocarcinoma cell line, HeLa human cervical epithelial carcinoma cell line, and U2OS human osteosarcoma cell line. PVDF membrane was probed with 0.2 µg/mL of Human BRCA2 Monoclonal Antibody (Catalog # MAB2476) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <a class=BRCA2 was detected in immersion fixed paraffin-embedded sections of human breast cancer tissue using Mouse Anti-Human BRCA2 Monoclonal Antibody (Catalog # MAB2476) at 5 µg/mL for 1 hour at room temperature followed by incubation with the Anti-Mouse IgG VisUCyte™ HRP Polymer Antibody (<a class=

Mouse Monoclonal
Species Human
Applications WB, IHC

13 Publications
XPD Antibody
AF3296
Western blot shows lysates of K562 human chronic myelogenous leukemia cell line, CH-1 mouse B cell lymphoma cell line, and Rat-2 rat embryonic fibroblast cell line. PVDF membrane was probed with 0.5 µg/mL of Human/Mouse/Rat XPD Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3296) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=

Goat Polyclonal
Species Human, Mouse, Rat
Applications WB

1 Publication
FACA/FANCA Antibody
NB100-2564
Western Blot: FACA/FANCA Antibody [NB100-2564] - Detection of FANC A in transfected COS1 cell lysate.

Rabbit Polyclonal
Species Human
Applications WB

1 Publication
WRN Antibody
NB100-471
Western Blot: WRN Antibody [NB100-471] - Human colon cancer cells with siRNA Control, siRNA pool of siWrn and 3 different sets of siRNA Wrn. GAPDH laoding control. Western blot image submitted by a verified customer review.Immunocytochemistry/Immunofluorescence: WRN Antibody [NB100-471] - Analysis of WRN in untreated, asynchronous HeLa cells using anti-WRN antibody. The primary antibody was used at a dilution of 1:100, incubated for 1 hour at room temperature in 1XPBS. Image from verified customer review.

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

     2 Reviews

13 Publications
ATM Antibody (2C1)
NB100-309
Immunohistochemistry-Paraffin: ATM Antibody (2C1) [NB100-309] - Human Testis (formalin-fixed, paraffin-embedded) stained with ATM antibody (2C1) [NB100-309] at 5 ug/ml followed by biotinylated anti-mouse IgG secondary antibody, alkaline phosphatase-streptavidin and chromogen.Western Blot: ATM Antibody (2C1) [NB100-309] - Detection of human ATM protein using ATM antibody (2C1) [NB100-309] by western blot or immunoprecipitation. Theoretical molecular weight 351 kDa.

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

     3 Reviews

131 Publications
RECQL4 Antibody
NBP2-47310
Western Blot: RECQL4 Antibody [NBP2-47310] - Analysis in human cell line U-2 OS.Immunocytochemistry/Immunofluorescence: RECQL4 Antibody [NBP2-47310] - 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, IHC

BLAP75 Antibody
NB100-1720
Western Blot: BLAP75 Antibody [NB100-1720] - Whole cell lysate (50 ug) from U2OS, HeLa, MCF-7, andLNCaP cells prepared using NETN lysis buffer. Antibody:Affinity purified rabbit anti-BLAP75 antibody used for WB at 0.1 ug/ml. Detection:Chemiluminescence with an exposure time of 3 minutes.Immunohistochemistry-Paraffin: BLAP75 Antibody [NB100-1720] - Section of human ovarian carcinoma. Antibody: Affinity purified rabbit anti-BLAP75 used at a dilution of 1:200 (1ug/ml). Detection: DAB

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

6 Publications
Rad51 Antibody (14B4)
NB100-148
Western Blot: Rad51 Antibody (14B4) [NB100-148] - eIF3f facilitates hMSH4 stabilization. Western blotting analysis of the levels of HDAC3, hRad51, and VBP1 expression in 293T, 293T/eIF3f, and 293T/eIF3f-hMSH4 cells. 293T/eIF3f-hMSH4 cells treated with 1 or 10 Gy IR were fractionated at 6 hrs post-treatment and the levels of hMSH4 and eIF3f in the nuclear and cytoplasmic fractions were determined by immunoblotting. Alpha-tubulin was used as a marker for the cytoplasmic fraction. Image collected and cropped by CiteAb from the following publication (https://molecular-cancer.biomedcentral.com/articles/10.1186/1476-4598-12-51) licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: Rad51 Antibody (14B4) [NB100-148] - HCC1937 (human immortalized breast cancer) cells treated with PARPi for 96 h. Nuclei are stained in blue (DAPI) and RAD51 in red. ICC/IF image submitted by a verified customer review.

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

     5 Reviews

66 Publications

Related Genes

Bloom Syndrome has been researched against:

Related Pathways

Bloom Syndrome has been linked to:

Related Diseases

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

Related PTMs

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

Alternate Names

Bloom Syndrome is also known as bloom syndrome, congenital telangiectatic erythema, growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability, congenital telangiectatic erythema syndrome, neonatal hemochromatosis, bls, blm, bs.