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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.

Bloom 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 Bloom 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 1002 products for the study of Bloom Syndrome that can be applied to Chromatin Immunoprecipitation, Western Blot, Flow Cytometry, Immunocytochemistry/Immunofluorescence, Chromatin Immunoprecipitation (ChIP), Immunohistochemistry from our catalog of antibodies and ELISA kits.

NB100-214
Western Blot: Blooms Syndrome Protein Blm Antibody [NB100-214] - Samples: Whole cell lysate (15 ug) from HEK293T, K-562, Jurkat, HeLa, and A-549 cells prepared using NETN lysis buffer. Antibody: Affinity purified rabbit anti-BLM antibody NB100-214 (lot 4) used for WB at 0.1 ug/ml. Detection: Chemiluminescence with an exposure time of 30 seconds.Western Blot: Blooms Syndrome Protein Blm Antibody [NB100-214] - Samples: Whole cell lysate (50 ug) from TCMK-1 and BIH 3T3 cells prepared using NETN lysis buffer. Antibody: Affinity purified rabbit anti-BLM antibody NB100-214 (lot 4) used for WB at 0.1 ug/ml. Detection: Chemiluminescence with an exposure time of 75 seconds.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, IP

6 Publications
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, ICC/IF, IHC

     2 Reviews

11 Publications
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
NB100-148
Western Blot: Rad51 Antibody (14B4) [NB100-148] - Various whole cell extracts (70 ug) were separated by 12% SDS-PAGE, and the membrane was blotted with Rad51 antibody [14B4] diluted at 1:500. The HRP-conjugated anti-mouse IgG antibody (NBP2-19382) was used to detect the primary antibody.Immunocytochemistry/Immunofluorescence: Rad51 Antibody (14B4) [NB100-148] - Staining of RAD51 nuclear foci in U2OS cells using RAD51 14B4 antibody. Cells were pre-extracted with CSK buffer before fixation with 4% PFA. RAD51 14B4 was used at 1:1000 dultion. DAPI was used to counterstain the nucleus. Scale bar, 10 mciro-meter.

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

     4 Reviews

45 Publications
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] - HeLa cells were fixed for 10 minutes using 10% formalin and then permeabilized for 5 minutes using 1X TBS + 0.5% Triton X-100. The cells were incubated with anti-p53 (PAb 240) [NB200-103] at a 1:200 dilution overnight at 4C and detected with an anti-mouse DyLight 488 (Green) at a 1:500 dilution. Actin was detected with Phalloidin 568 (Red) at a 1:200 dilution. 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

25 Publications
NBP2-47310
Western Blot: RECQL4 Antibody [NBP2-47310] - Analysis in human cell line RT-4 and human cell line U-251 MG.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

NB100-1720
Western Blot: BLAP75 Antibody [NB100-1720] - Samples: Whole cell lysate (5, 15 and 50 mcg for WB; 1 mg for IP, 20% of IP loaded) from HeLa cells.  Affinity purified rabbit anti-BLAP75 antibody NB100-1720 used for WB at 0.04 mcg/ml (A) and 1 mcg/ml (B) and used for IP at 3 mcg/mg lysate (B).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 staining using Immunohistochemistry Accessory Kit.

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

NB100-104
Western Blot: ATM Antibody [NB100-104] - Detection of ATM in HeLa nuclear extract using NB100-104.Immunohistochemistry-Paraffin: ATM Antibody [NB100-104] - Staining of human tonsil, germinal center and mantle zone.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ELISA, Flow

     2 Reviews

87 Publications
NB100-59787
Western Blot: PML Protein Antibody [NB100-59787] - Detection of Human PML on HeLa whole cell lysate using NB100-59787. PML was also immunoprecipitated by rabbit anti-PML antibodies NB100-59788 and another CDC16/APC6 Ab.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.

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

     1 Review

24 Publications
NBP1-83438
Western Blot: RECQL5 Antibody [NBP1-83438] - Analysis in A-549 cells transfected with control siRNA, target specific siRNA probe #1 and #2, using Anti-RECQL5 antibody. Remaining relative intensity is presented. Loading control: Anti-GAPDH.Immunocytochemistry/Immunofluorescence: RECQL5 Antibody [NBP1-83438] - Staining of human cell line A-431 shows localization to nucleus & cytosol. Antibody staining is shown in green.

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

2 Publications
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
NBP1-88361
Immunocytochemistry/Immunofluorescence: BRCA2 Antibody [NBP1-88361] - Staining of human cell line U-251 MG shows localization to nucleoplasm & cytosol. Antibody staining is shown in green.

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

2 Publications
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 Nbs1 Polyclonal Antibody (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] - 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 (http://dx.plos.org/10.1371/journal.ppat.1006335), licensed under a CC-BY licence.

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

     8 Reviews

173 Publications
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
NBP2-16338
Western Blot: ENOSF1 Antibody [NBP2-16338] - Sample (30 ug of whole cell lysate) A: Hela 10% SDS PAGE gel, diluted at 1:1000.Immunocytochemistry/Immunofluorescence: ENOSF1 Antibody [NBP2-16338] - Immunofluorescence analysis of methanol-fixed HeLa, using antibody at 1:500 dilution.

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

NB600-1101
Western Blot: MeCP2 Antibody [NB600-1101] - Analysis of HeLa cell extract.Immunocytochemistry/Immunofluorescence: MeCP2 Antibody [NB600-1101] - Analysis of Methyl CpG Binding Protein 2 (green) showing staining in the nucleus of C2C12 cells (right) compared to a negative control without primary antibody (left).

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

4 Publications
NBP2-67219
Immunocytochemistry/Immunofluorescence: Topoisomerase III alpha Antibody [NBP2-67219] - Staining TOP3A in A431 cells (green). Cells were fixed in paraformaldehyde, permeabilised with 0.25% Triton X100/PBS and counterstained with DAPI in order to highlight the nucleus (blue).Immunohistochemistry-Paraffin: Topoisomerase III alpha Antibody [NBP2-67219] - Analysis of paraffin-embedded mouse testis tissue using anti- TOP3A rabbit polyclonal antibody.

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

NB100-384
Immunocytochemistry/Immunofluorescence: gamma H2AX [p Ser139] Antibody [NB100-384] - Samples: Neocarzinostatin treated asynchronous HeLa cells (left) and untreated asynchronous HeLa cells (right). Antibody: Affinity purified rabbit anti-gamma-H2AX 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.Flow Cytometry: gamma H2AX [p Ser139] Antibody [NB100-384] - Analysis of gamma-H2AX in EPE Treated Jurkat Cells. Cells were treated for 3 hrs in 5ug/ml etoposide, fixed in 1.5% PFA, and permeabilized in 90% Methanol. 1 million cells were stained with 0.5 ug anti-KLH or anti-H2AX NB100-384 and secondary FITC-conjugated goat anti-rabbit (in a 150ul reaction). Black- etosposide treated, anti-KLH; Red- untreated, anti-gamma H2AX; Blue- etoposide treated, anti-gamma H2AX.

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

     1 Review

89 Publications

Related Genes

Bloom Syndrome has been researched against:

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.