
OBJECTIVE
Usher syndrome is an autosomal recessive disorder characterized by hearing and vision loss. Usher syndrome is clinically divided into three subclasses (type 1, type 2 and type 3), which differ in terms of severity and development of hearing loss and the presence or absence of vestibular symptoms. Usher syndrome is defined by a significant genetic heterogeneity, with at least 12 different loci described and 9 genes were identified. This study aims to provide molecular epidemiological report Usher syndrome in Italy.
METHOD
molecular data have been obtained in 75 patients Italy does not relate to use up-to-date technology that is most available to screen for gene mutations syndrome, Usher, namely genotyping microarray was developed by Asper Biotech (Tartu, Estonia), which also investigated the 612 positions of different markers using arrayed a well-established methodology primer extension (APEX).
RESULTS
By using this method, we found that 12% of the cases (9 of 75) harbored a homozygous or compound heterozygous mutations in the gene position are analyzed, whereas 20% (15 of 75) of patients were characterized by the presence of only one mutated allele based on the position analyzed. One patient was found to compound heterozygous mutations in two different genes, and it is for example possible inheritance digenic on Usher syndrome. A total of 66.6% of the cases (50 of 75) were found to be completely negative for the presence of Usher syndrome gene mutations in position is detected. Mutations detected by the array was confirmed by direct sequencing.
CONCLUSION
These findings highlight the effectiveness of the APEX-based genotyping approach in the assessment of patients molecule Usher, showed allele have not been identified and / or the involvement of additional putative genes that could explain the pathogenesis of Usher syndrome.

MICA-A4 triplet repeat polymorphism in the transmembrane regions confer additional risk for the development of psoriatic arthritis in the population of Croatia.
The purpose of this study was to investigate the possible differences in the frequency of alleles at the HLA locus and at microsatellite loci within the HLA region between patients with psoriatic arthritis (PsA) and healthy controls. Fifty-eight Croatian PsA patients (28 men and 30 women) and 157 unrelated healthy controls typed for HLA alleles (A, B, Cw and DRB1) by the polymerase chain reaction – sequence specific primer (PCR-SSP) method , while microsatellite allele (D6S265, D6S273, MHC class I-related chain gene (MICA) and MIB) were analyzed by electrophoresis in ALFexpress sequencer (Pharmacia Biotech, Uppsala, Sweden).
The findings of this study are: (1) the frequency of B * 39 and B * 57 increased significantly in patients with PsA; (2) differences in the frequency of B * 13 and B * 27 were not statistically significant after correction; (3) B * 0702, B * 18 and B * 38 allele decreased in patients just before correction; (4) there is no other alleles at the HLA loci tested was associated with PsA in Croatia; (5) polymorphism at D6S265, D6S273, and MIB microsatellite patients showed no statistically significant difference when compared with controls; (6) increase in MICA-A4 allele frequency in patients with PsA is independent of B * 39 and B * 57 allele.
PPQ-102 |
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HY-14179 | MedChemExpress | 100mg | EUR 1221 |
BGB-102 |
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HY-15732 | MedChemExpress | 10mg | EUR 6041 |
EL-102 |
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HY-16187 | MedChemExpress | 10mM/1mL | EUR 376 |
MM-102 |
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B1582-2 | ApexBio | 2 mg | EUR 128 |
Description: MM-102 is an antagonist of MLL1 with IC50 value of 2.4nM [1].Mixed lineage leukemia 1 (MLL1) is a histone H3 lysine 4 (H3K4) methyltransferase. |
MM-102 |
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B1582-20 | ApexBio | 20 mg | EUR 593 |
Description: MM-102 is an antagonist of MLL1 with IC50 value of 2.4nM [1].Mixed lineage leukemia 1 (MLL1) is a histone H3 lysine 4 (H3K4) methyltransferase. |
PPQ-102 |
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B3504-10 | ApexBio | 10 mg | EUR 242 |
PPQ-102 |
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B3504-5 | ApexBio | 5 mg | EUR 151 |
PPQ-102 |
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B3504-50 | ApexBio | 50 mg | EUR 863 |
PM 102 |
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B5517-1 | ApexBio | 1 mg | EUR 601 |
MM-102 |
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B2364-25 | Biovision | EUR 588 |
MM-102 |
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B2364-5 | Biovision | EUR 185 |
p38 protein |
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E20-80078 | EnoGene | 20ug | EUR 408 |
p38 protein |
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E20-80079 | EnoGene | 20ug | EUR 408 |
p38 Antibody |
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20-abx133223 | Abbexa |
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p38 Antibody |
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20-abx007541 | Abbexa |
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p38 Antibody |
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abx236076-100ug | Abbexa | 100 ug | EUR 481 |
p38 Antibody |
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20-abx141038 | Abbexa |
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p38 Antibody |
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35478-100ul | SAB | 100ul | EUR 390 |
p38 Antibody |
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48644-100ul | SAB | 100ul | EUR 333 |
p38 Antibody |
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48644-50ul | SAB | 50ul | EUR 239 |
anti-p38 |
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YF-PA11120 | Abfrontier | 50 ug | EUR 363 |
Description: Mouse polyclonal to p38 |
anti-p38 |
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YF-PA11121 | Abfrontier | 100 ug | EUR 403 |
Description: Rabbit polyclonal to p38 |
anti-p38 |
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YF-PA23519 | Abfrontier | 50 ul | EUR 334 |
Description: Mouse polyclonal to p38 |
anti-p38 |
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YF-PA23520 | Abfrontier | 50 ul | EUR 334 |
Description: Mouse polyclonal to p38 |
anti-p38 |
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YF-PA23521 | Abfrontier | 50 ul | EUR 334 |
Description: Mouse polyclonal to p38 |
p38 antibody |
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70R-51505 | Fitzgerald | 100 ul | EUR 268 |
Description: Purified Polyclonal p38 antibody |
p38 antibody |
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70R-51506 | Fitzgerald | 100 ul | EUR 287 |
Description: Purified Polyclonal p38 antibody |
LB (Lennox) |
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102 | AthenaES | 500 g | EUR 101 |
BP-1-102 |
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HY-100493 | MedChemExpress | 100mg | EUR 1345 |
MM-102 (TFA) |
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HY-12220A | MedChemExpress | 10mM/1mL | EUR 263 |
SB-203580 p38 MAPK(p38 MAP kinase) Inhibitor |
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E1B1863 | EnoGene | 1mg | EUR 161 |
p38 Polyclonal Antibody |
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ES4837-100ul | ELK Biotech | 100ul | EUR 279 |
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA |
p38 Polyclonal Antibody |
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ES4837-50ul | ELK Biotech | 50ul | EUR 207 |
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA |
p38 Polyclonal Antibody |
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ES4838-100ul | ELK Biotech | 100ul | EUR 279 |
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, WB, ELISA |
p38 Polyclonal Antibody |
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ES4838-50ul | ELK Biotech | 50ul | EUR 207 |
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, WB, ELISA |
p38 Polyclonal Antibody |
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ES8347-100ul | ELK Biotech | 100ul | EUR 279 |
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat/Chicken. This antibody is tested and validated for WB, ELISA, WB, ELISA |
p38 Polyclonal Antibody |
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ES8347-50ul | ELK Biotech | 50ul | EUR 207 |
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat/Chicken. This antibody is tested and validated for WB, ELISA, WB, ELISA |
p38 Polyclonal Antibody |
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ES3111-50ul | ELK Biotech | 50ul | EUR 207 |
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, WB, ELISA |
p38 Polyclonal Antibody |
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ES3112-50ul | ELK Biotech | 50ul | EUR 207 |
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA |
p38 Polyclonal Antibody |
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ES3111-100ul | ELK Biotech | 100ul | EUR 279 |
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, WB, ELISA |
p38 Polyclonal Antibody |
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ES3112-100ul | ELK Biotech | 100ul | EUR 279 |
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA |
p38 (pY323) Antibody |
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20-abx133058 | Abbexa |
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p38 (pY182) Antibody |
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20-abx134951 | Abbexa |
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p38 Polyclonal Antibody |
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ABP53838-003ml | Abbkine | 0.03ml | EUR 158 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180 |
p38 Polyclonal Antibody |
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ABP53838-01ml | Abbkine | 0.1ml | EUR 289 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180 |
p38 Polyclonal Antibody |
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ABP53838-02ml | Abbkine | 0.2ml | EUR 414 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180 |
p38 Polyclonal Antibody |
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ABP53839-003ml | Abbkine | 0.03ml | EUR 158 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IF, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y182 |
p38 Polyclonal Antibody |
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ABP53839-01ml | Abbkine | 0.1ml | EUR 289 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IF, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y182 |
p38 Polyclonal Antibody |
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ABP53839-02ml | Abbkine | 0.2ml | EUR 414 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IF, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y182 |
Anti-p38 Antibody |
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A00176 | BosterBio | 100ul | EUR 397 |
Description: Rabbit Polyclonal Antibody for p38 Antibody (MAPK14) detection.tested for WB in Human, Mouse, Rat. |
p38 Polyclonal Antibody |
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ABP52112-003ml | Abbkine | 0.03ml | EUR 158 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180/Y182 |
p38 Polyclonal Antibody |
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ABP52112-01ml | Abbkine | 0.1ml | EUR 289 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180/Y182 |
p38 Polyclonal Antibody |
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ABP52112-02ml | Abbkine | 0.2ml | EUR 414 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180/Y182 |
p38 Polyclonal Antibody |
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ABP52113-003ml | Abbkine | 0.03ml | EUR 158 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y323 |
p38 Polyclonal Antibody |
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ABP52113-01ml | Abbkine | 0.1ml | EUR 289 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y323 |
p38 Polyclonal Antibody |
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ABP52113-02ml | Abbkine | 0.2ml | EUR 414 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y323 |
p38 Blocking Peptide |
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20-abx061736 | Abbexa |
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p38 Blocking Peptide |
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20-abx062080 | Abbexa |
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p38 (pT180) Antibody |
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20-abx009863 | Abbexa |
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p38 MAPK Antibody |
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20-abx012798 | Abbexa |
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p38 MAPK Antibody |
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20-abx012875 | Abbexa |
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p38 Polyclonal Antibody |
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ABP57354-003ml | Abbkine | 0.03ml | EUR 158 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat, Chicken. This p38 antibody is for WB, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from the C-terminal region of human p38 |
p38 Polyclonal Antibody |
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ABP57354-01ml | Abbkine | 0.1ml | EUR 289 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat, Chicken. This p38 antibody is for WB, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from the C-terminal region of human p38 |
p38 Polyclonal Antibody |
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ABP57354-02ml | Abbkine | 0.2ml | EUR 414 |
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat, Chicken. This p38 antibody is for WB, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from the C-terminal region of human p38 |
p38 MAPK Antibody |
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abx236077-100ug | Abbexa | 100 ug | EUR 481 |
p38 Blocking Peptide |
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20-abx161932 | Abbexa |
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Anti-p38 antibody |
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STJ94876 | St John's Laboratory | 200 µl | EUR 197 |
Description: Rabbit polyclonal to p38. |
Anti-p38 antibody |
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STJ94877 | St John's Laboratory | 200 µl | EUR 197 |
Description: Rabbit polyclonal to p38. |
Anti-p38 antibody |
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STJ94878 | St John's Laboratory | 200 µl | EUR 197 |
Description: p38 is a protein encoded by the MAPK14 gene which is approximately 41,2 kDa. p38 is localised to the cytoplasm and nucleus. It is involved in activated TLR4 signalling, the IL-2 pathway, toll-like receptor signalling pathways, the VEGF signalling pathway and 4-1BB pathway. This protein falls under the MAP kinase family. It acts as an integration point for multiple biochemical signals, and is involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. p38 is expressed in the brain, heart, placenta, pancreas and skeletal muscle. Mutations in the MAPK14 gene may result in patellar tendinitis and lumbosacral lipoma. STJ94878 was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. This polyclonal antibody detects endogenous levels of p38 protein. |
Anti-p38 antibody |
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STJ94879 | St John's Laboratory | 200 µl | EUR 197 |
Description: Rabbit polyclonal to p38. |
Anti-P38 antibody |
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STJ98898 | St John's Laboratory | 200 µl | EUR 197 |
Description: Mouse monoclonal to P38. |
Anti-P38 antibody |
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STJ98899 | St John's Laboratory | 200 µl | EUR 197 |
Description: Mouse monoclonal to P38. |
Anti-p38 antibody |
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STJ97615 | St John's Laboratory | 200 µl | EUR 197 |
Description: Rabbit polyclonal to p38. |
p38 Polyclonal Antibody |
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41305-100ul | SAB | 100ul | EUR 252 |
p38 Polyclonal Antibody |
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41305-50ul | SAB | 50ul | EUR 187 |
p38 Polyclonal Antibody |
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41306-100ul | SAB | 100ul | EUR 252 |
p38 Polyclonal Antibody |
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41306-50ul | SAB | 50ul | EUR 187 |
p38 alpha-MAPK14 |
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RA15053 | Neuromics | 100 ug | EUR 526 |
anti- p38 antibody |
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FNab06076 | FN Test | 100µg | EUR 505.25 |
Description: Antibody raised against p38 |
p38 MAPK Antibody |
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49379-100ul | SAB | 100ul | EUR 333 |
p38 MAPK Antibody |
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49379-50ul | SAB | 50ul | EUR 239 |
p38 MAPK Antibody |
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AF6455 | Affbiotech | 200ul | EUR 304 |
Description: p38 MAPK Antibody detects endogenous levels of total p38 MAPK. |
p38 MAPK Antibody |
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AF6456 | Affbiotech | 200ul | EUR 304 |
Description: p38 MAPK Antibody detects endogenous levels of total p38 MAPK. |
p38 MAPK Antibody |
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AF6457 | Affbiotech | 200ul | EUR 304 |
Description: p38 MAPK Antibody detects endogenous levels of total p38 MAPK. |
anti-p38 MAPK |
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LF-PA0160 | Abfrontier | 100 ul | EUR 334 |
Description: Rabbit polyclonal to p38 MAPK |
Anti-p38 alpha |
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DB-1039 | DB Biotech | 100 tests | EUR 474 |
Anti-p38 beta |
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DB-1040 | DB Biotech | 100 tests | EUR 474 |
Anti-p38 gamma |
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DB-1041 | DB Biotech | 100 tests | EUR 474 |
Anti-p38 delta |
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DB-1042 | DB Biotech | 100 tests | EUR 474 |
Anti-p38-a |
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DB-161-0.05 | DB Biotech | 50 μl | EUR 269 |
Anti-p38-a |
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DB-161-0.1 | DB Biotech | 100 μl | EUR 422 |
Anti-p38-b |
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DB-162-0.05 | DB Biotech | 50 μl | EUR 269 |
Anti-p38-b |
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DB-162-0.1 | DB Biotech | 100 μl | EUR 422 |
Anti-p38-g |
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DB-163-0.05 | DB Biotech | 50 μl | EUR 269 |
Anti-p38-g |
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DB-163-0.1 | DB Biotech | 100 μl | EUR 422 |
Anti-p38-d |
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DB-164-0.05 | DB Biotech | 50 μl | EUR 269 |
The presence of JAK2 V617F mutation is now part of clinical diagnostic algorithm, and the status of JAK2 routinely assessed when the BCR / ABL- chronic myeloproliferative neoplasms (MPNs) are suspected. The purpose of this study was to evaluate the performance of three screening and one quantitative method for the detection of JAK2 V617F. For this study, 43 samples (27, 16 bone marrow aspirate and peripheral blood samples) were selected.