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De Novo Mutation: Disease Bioinformatics

Research of De Novo Mutation has been linked to Neoplasms, Embryonic Mosaic, Dystrophy, Malignant Neoplasms, Hereditary Diseases. The study of De Novo Mutation has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to De Novo Mutation include Pathogenesis, Translation, Transport, Secretion, Localization. These pathways complement our catalog of research reagents for the study of De Novo Mutation including antibodies and ELISA kits against HB, DMD, MPZ, GJB2, HBB.

De Novo Mutation 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 De Novo Mutation 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 2417 products for the study of De Novo Mutation that can be applied to Chromatin Immunoprecipitation, Flow Cytometry, Immunocytochemistry/Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Glucose 6 Phosphate Dehydrogenase Antibody
NB100-236
Western Blot: Glucose 6 Phosphate Dehydrogenase Antibody [NB100-236] - Immunoblot analyses of protein expression for Nrf2 and antioxidant enzymes. Representative immunoblots of cytosolic extracts from the hearts of young and old mice under basal conditions and following EES. Protein blots were probed with anti-HO1, NQO1, GCLM, GCLC, Catalase, SOD1, SOD2, GSR, G6PD, GPX1 and GAPDH. Individual lanes indicate a single animal. Densitometry analysis of respective protein signals was performed using Image-J and expressed as relative intensity units calculated as mean values of young and old, *p<0.05. Individual lanes indicate each animal (n?=?6). #p<0.05-between basal and EES. Image collected and cropped by CiteAb from the following publication (http://dx.plos.org/10.1371/journal.pone.0045697), licensed under a CC-BY licence.Western Blot: Glucose 6 Phosphate Dehydrogenase Antibody [NB100-236] - Detection of Human and Mouse G6PD by Western Blot. Samples: Whole cell lysate (50 ug) from HeLa, 293T, and mouse NIH3T3 cells prepared using NETN lysis buffer. Antibody: Affinity purified rabbit anti-G6PD antibody NB100-236 used for WB at 1 ug/ml. Detection: Chemiluminescence with an exposure time of 30 seconds.

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

17 Publications
LDLR Antibody (C7)
NBP1-78159
Western Blot: LDL R Antibody (C7) [NBP1-78159] - Total protein from human HeLa and HepG2 cells was separated on a 7.5% gel by SDS-PAGE, transferred to PVDF membrane and blocked in 5% non-fat milk in TBST. The membrane was probed with 0.5 ug/mL anti-LDL receptor in 1% non-fat milk in TBST and detected with an anti-mouse HRP secondary antibody using chemiluminescence.Immunocytochemistry/Immunofluorescence: LDLR Antibody (C7) [NBP1-78159] - Immunocytochemistry of LA-6 and intact MPEFs (used as positive control) using anti-LDLR antibody. The parental MPEFs reactive to the secondary antibody (fluorescein-labeled anti-mouse IgG) alone are designated as negative control. All cells were counterstained with DAPI upon reaction with the secondary antibody. Bar = 30 um. Image collected and cropped by CiteAb from the following publication (www.mdpi.com/1422-0067/18/12/2610) licensed under a CC-BY licence.

Mouse Monoclonal
Species Human, Rat, Porcine
Applications WB, EM, ELISA

     1 Review

22 Publications
Ornithine Carbamoyltransferase Antibody
NBP1-87408
Immunohistochemistry-Paraffin: Ornithine Carbamoyltransferase Antibody [NBP1-87408] - Staining in human liver and kidney tissues . Corresponding OTC RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: Ornithine Carbamoyltransferase Antibody [NBP1-87408] - Staining of human cerebral cortex, kidney, liver and small intestine using Anti-OTC antibody NBP1-87408 (A) shows similar protein distribution across tissues to independent antibody NBP1-88121 (B).

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

4 Publications
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
Androgen R/NR3C4 [p Ser213, p Ser210] Antibody (156C135.2) - BSA Free
NB100-56603
Western Blot: Androgen R/NR3C4 [p Ser213, p Ser210] Antibody (156C135.2) [NB100-56603] - Analysis using Azide Free version of NB100-56603. LNCaP cells (passage number 38) were serum-starved for 2 days. After serum starvation, cells were (A) left untreated, (B) treated with 100 ng/ml IGF-1 for 4h, or (C) incubated with 20 um LY294002 for 30 mi

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

14 Publications
CYP21A2 Antibody
NBP2-13893
Western Blot: CYP21A2 Antibody [NBP2-13893] - Analysis in human adrenal gland tissue.Immunohistochemistry-Paraffin: CYP21A2 Antibody [NBP2-13893] - Staining of human pancreas shows no positivity in exocrine glandular cells as expected.

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

Hemoglobin beta Antibody
NBP2-14081
Immunocytochemistry/Immunofluorescence: Hemoglobin beta Antibody [NBP2-14081] - Staining of human cell line Hep G2 shows localization to vesicles. Antibody staining is shown in green.Immunohistochemistry-Paraffin: Hemoglobin beta Antibody [NBP2-14081] - Staining of human placenta shows erythrocyte positivity in vessels.

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

     1 Review

Myelin Protein Zero Antibody
NB100-1607
Immunocytochemistry/Immunofluorescence: Myelin Protein Zero Antibody [NB100-1607] - Immunohistochemical staining of P-zero on a 4.0% paraformaldehyde-fixed, paraffin-embedded tissue section through the sciatic nerve of an adult mouse. (Green) P0 concentration was 1:1000 dilution, followed by fluorescein-labeled goat anti-chicken IgY (1:500 dilution). Red is actin. Blue is DAPI nuclear counterstain. Immunohistochemistry: Myelin Protein Zero Antibody [NB100-1607] - In the image (a lower power tissue section through an adult sciatic nerve), Myelin Protein Zero (brown staining) can be seen in all of the myelinating Schwann cells.

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

9 Publications
Lamin A + C Antibody (4C4)
NBP2-25151
Western Blot: Lamin A + C Antibody (4C4) [NBP2-25151] - Analysis of different cell lysates using mouse mAb to lamin A/C, NBP2-25151, dilution 1:1,000 in green: [1] protein standard (red), [2] HeLa, [3] HEK293 [4] C6, and [5] NIH-3T3 cell lysates. Two strong bands at 74 and 65kDa correspond to the lamin A and lamin C proteins respectively, detected only in the cells of human origin. NBP2-25151 antibody failed to recognize rat or mouse proteins.Immunocytochemistry/Immunofluorescence: Lamin A + C Antibody (4C4) [NBP2-25151] - Analysis of HeLa cells stained with mouse mAb to lamin A/C, NBP2-25151, dilution 1:2,000 in red, and costained with rabbit pAb to HSP60, dilution 1:5,000, in green. The blue is Hoechst staining of nuclear DNA. NBP2-25151 antibody specifically labels the nuclear lamina, while the HSP60 antibody reveals protein expressed in mitochondria.

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

2 Publications
Von Willebrand Factor Antibody
NB600-586
Dual RNAscope ISH-IHC: Von Willebrand Factor Antibody [NB600-586] - Formalin-fixed paraffin-embedded tissue sections of human metastatic tonsil were probed for vWF mRNA (ACD RNAScope probe, catalog # 5860461; Fast Red chromogen, ACD catalog # 322500). Adjacent tissue section was processed for immunohistochemistry using rabbit polyclonal (Novus catalog # NB600-586) at 1:500 dilution for 1 hour at room temperature followed by incubation with the anti-rabbit IgG VisUCyte HRP Polymer Antibody (Catalog # VC003) and DAB chromogen (yellow-brown). Tissue was counterstained with hematoxylin (blue).Immunohistochemistry: Von Willebrand Factor Antibody [NB600-586] - Formalin fixed paraffin embedded human tonsil stained with Factor VIII antibody.

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

     3 Reviews

7 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=NoLineLink href=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

16 Publications
CFTR Antibody (24-1) [Unconjugated] - C-terminus
MAB25031
CFTR was detected in immersion fixed paraffin-embedded sections of human placenta using 8 µg/mL Mouse Anti-Human CFTR C‑Terminus Monoclonal Antibody (Catalog # MAB25031) overnight at 4 °C. Tissue was stained with the Anti-Mouse HRP-AEC Cell & Tissue Staining Kit (red; Catalog # <A class=NoLineLink href=CFTR was detected in immersion fixed paraffin-embedded sections of human placenta using Mouse Anti-Human CFTR C-Terminus Monoclonal Antibody (Catalog # MAB25031) at 25 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Mouse HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <A class=NoLineLink href=

Mouse Monoclonal
Species Human
Applications WB, IHC, IP

     10 Reviews

45 Publications
Connexin 26/GJB2 Antibody - BSA Free
NBP2-41304
Western Blot: Connexin 26/GJB2 Antibody [NBP2-41304] - Western blotting analysis detects Cx26 using R(alpha)Cx26-Ct or R(alpha)Cx26-cl antibodies. (a) R(alpha)Cx26-Ct (A) and R(alpha)Cx26-cl (B) antibodies detected a specific 26kDa band on pig heart tissue lysates (lanes A and B are cropped blots obtained from the same gel). R(alpha)Cx26-cl recognized the 26kDa band on human and rat heart (H) lysates and on rat liver (L) sample (positive control) although two unspecific bands at molecular weights lower than 26kDa were detected. No bands were detected on smooth muscle (SM) tissue lysates (negative control) by R(alpha)Cx26-cl. R(alpha)GAPDH was used as protein loading control for rat tissue samples run on the same gel. Image collected and cropped by CiteAb from the following publication (nature.com/articles/s41598-018-32405-2), licensed under a CC-BY licence.Immunocytochemistry/Immunofluorescence: Connexin 26/GJB2 Antibody [NBP2-41304] - Cx26 distribution at level of the cardiomyocyte cytoplasm. Confocal laser scanning microscopy: representative images of rat and pig heart sections. Double immunofluorescence analysis for Cx26 (red) and Cx43 (green) show a distinct cell localization of the two Cxs. (a) Three dimensional picture of the maximum intensity projection of the raw images of longitudinal rat heart section treated with R(alpha)Cx26-cl and M(alpha)Cx43. Scale bar: 20um. Image collected and cropped by CiteAb from the following publication (nature.com/articles/s41598-018-32405-2), licensed under a CC-BY licence.

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

3 Publications
PrPC Antibody
NB100-56605
Western Blot: PrPC Antibody [NB100-56605] - Analysis of BSE in (A) recombinant fusion protein containing amino acids 162-170 and (B) fusion partner without these amino acids, using this antibody at 5 ug/ml.

Rabbit Polyclonal
Species Avian, Bovine, Sheep
Applications WB

Phenylalanine Hydroxylase Antibody
NBP2-48615
Immunohistochemistry-Paraffin: Phenylalanine Hydroxylase Antibody [NBP2-48615] - Analysis in human liver and pancreas tissues. Corresponding Phenylalanine Hydroxylase RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: Phenylalanine Hydroxylase Antibody [NBP2-48615] - Staining of human cerebral cortex, kidney, liver and pancreas using Anti-Phenylalanine Hydroxylase antibody NBP2-48615 (A) shows similar protein distribution across tissues to independent antibody NBP1-80917 (B).

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

Connexin 32/GJB1 Antibody (M12.13)
NBP2-53381
Western Blot: Connexin 32/GJB1 Antibody (M12.13) [NBP2-53381] - Western Blot Analysis of human stomach lysate using Connexin 32/GJB1 Antibody (M12.13).

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

1 Publication
APC Antibody - BSA Free
NB100-91662
Western Blot: APC Antibody [NB100-91662] - Lane1:Hela cell lysate. Lane2:HEK293T cell lysate. Lane3:Rat testis tissue lysate. Immunocytochemistry/Immunofluorescence: APC Antibody [NB100-91662] - HeLa cells were fixed for 10 minutes using 10% formalin and then permeabilized for 5 minutes using 1X PBS + 0.05% Triton-X100. The cells were incubated with anti-APC Antibody at 2 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:500 dilution. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 40X objective.

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

1 Publication
PMP22 Antibody (Hu1)
NB110-59086
Immunohistochemistry: PMP22 Antibody (Hu1) [NB110-59086] - Staining of PMP22 (brown) in dorsal root ganglion and spinal roots in 20 week fetal spinal cord preparation from rhesus monkey.

Mouse Monoclonal
Species Human, Primate, Bovine (Negative)
Applications WB, IHC, IHC-P

1 Publication