Molecular epidemiology of Usher syndrome in Italy.

Molecular epidemiology of Usher syndrome in Italy.

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.

 Molecular epidemiology of Usher syndrome in Italy.
Molecular epidemiology of Usher syndrome in Italy.

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

HY-14179 100mg
EUR 1221

BGB-102

HY-15732 10mg
EUR 6041

EL-102

HY-16187 10mM/1mL
EUR 376

MM-102

B1582-2 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

B1582-20 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

B3504-10 10 mg
EUR 242

PPQ-102

B3504-5 5 mg
EUR 151

PPQ-102

B3504-50 50 mg
EUR 863

PM 102

B5517-1 1 mg
EUR 601

MM-102

B2364-25
EUR 588

MM-102

B2364-5
EUR 185

p38 protein

E20-80078 20ug
EUR 408

p38 protein

E20-80079 20ug
EUR 408

p38 Antibody

20-abx133223
  • EUR 300.00
  • EUR 439.00
  • EUR 189.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 Antibody

20-abx007541
  • EUR 300.00
  • EUR 439.00
  • EUR 189.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 Antibody

abx236076-100ug 100 ug
EUR 481

p38 Antibody

20-abx141038
  • EUR 356.00
  • EUR 537.00
  • EUR 217.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 Antibody

35478-100ul 100ul
EUR 390

p38 Antibody

48644-100ul 100ul
EUR 333

p38 Antibody

48644-50ul 50ul
EUR 239

anti-p38

YF-PA11120 50 ug
EUR 363
Description: Mouse polyclonal to p38

anti-p38

YF-PA11121 100 ug
EUR 403
Description: Rabbit polyclonal to p38

anti-p38

YF-PA23519 50 ul
EUR 334
Description: Mouse polyclonal to p38

anti-p38

YF-PA23520 50 ul
EUR 334
Description: Mouse polyclonal to p38

anti-p38

YF-PA23521 50 ul
EUR 334
Description: Mouse polyclonal to p38

p38 antibody

70R-51505 100 ul
EUR 268
Description: Purified Polyclonal p38 antibody

p38 antibody

70R-51506 100 ul
EUR 287
Description: Purified Polyclonal p38 antibody

LB (Lennox)

102 500 g
EUR 101

BP-1-102

HY-100493 100mg
EUR 1345

MM-102 (TFA)

HY-12220A 10mM/1mL
EUR 263

SB-203580 p38 MAPK(p38 MAP kinase) Inhibitor

E1B1863 1mg
EUR 161

p38 Polyclonal Antibody

ES4837-100ul 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

ES4837-50ul 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

ES4838-100ul 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

ES4838-50ul 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

ES8347-100ul 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

ES8347-50ul 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

ES3111-50ul 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

ES3112-50ul 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

ES3111-100ul 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

ES3112-100ul 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

20-abx133058
  • EUR 314.00
  • EUR 467.00
  • EUR 203.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 (pY182) Antibody

20-abx134951
  • EUR 384.00
  • EUR 606.00
  • EUR 230.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 Polyclonal Antibody

ABP53838-003ml 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

ABP53838-01ml 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

ABP53838-02ml 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

ABP53839-003ml 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

ABP53839-01ml 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

ABP53839-02ml 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

A00176 100ul
EUR 397
Description: Rabbit Polyclonal Antibody for p38 Antibody (MAPK14) detection.tested for WB in Human, Mouse, Rat.

p38 Polyclonal Antibody

ABP52112-003ml 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

ABP52112-01ml 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

ABP52112-02ml 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

ABP52113-003ml 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

ABP52113-01ml 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

ABP52113-02ml 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

20-abx061736
  • EUR 258.00
  • EUR 384.00
  • 1 mg
  • 5 mg

p38 Blocking Peptide

20-abx062080
  • EUR 272.00
  • EUR 411.00
  • 1 mg
  • 5 mg

p38 (pT180) Antibody

20-abx009863
  • EUR 314.00
  • EUR 467.00
  • EUR 203.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 MAPK Antibody

20-abx012798
  • EUR 314.00
  • EUR 98.00
  • EUR 398.00
  • EUR 495.00
  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg

p38 MAPK Antibody

20-abx012875
  • EUR 314.00
  • EUR 98.00
  • EUR 398.00
  • EUR 495.00
  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg

p38 Polyclonal Antibody

ABP57354-003ml 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

ABP57354-01ml 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

ABP57354-02ml 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

abx236077-100ug 100 ug
EUR 481

p38 Blocking Peptide

20-abx161932
  • EUR 272.00
  • EUR 411.00
  • 1 mg
  • 5 mg

Anti-p38 antibody

STJ94876 200 µl
EUR 197
Description: Rabbit polyclonal to p38.

Anti-p38 antibody

STJ94877 200 µl
EUR 197
Description: Rabbit polyclonal to p38.

Anti-p38 antibody

STJ94878 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

STJ94879 200 µl
EUR 197
Description: Rabbit polyclonal to p38.

Anti-P38 antibody

STJ98898 200 µl
EUR 197
Description: Mouse monoclonal to P38.

Anti-P38 antibody

STJ98899 200 µl
EUR 197
Description: Mouse monoclonal to P38.

Anti-p38 antibody

STJ97615 200 µl
EUR 197
Description: Rabbit polyclonal to p38.

p38 Polyclonal Antibody

41305-100ul 100ul
EUR 252

p38 Polyclonal Antibody

41305-50ul 50ul
EUR 187

p38 Polyclonal Antibody

41306-100ul 100ul
EUR 252

p38 Polyclonal Antibody

41306-50ul 50ul
EUR 187

p38 alpha-MAPK14

RA15053 100 ug
EUR 526

anti- p38 antibody

FNab06076 100µg
EUR 505.25
Description: Antibody raised against p38

p38 MAPK Antibody

49379-100ul 100ul
EUR 333

p38 MAPK Antibody

49379-50ul 50ul
EUR 239

p38 MAPK Antibody

AF6455 200ul
EUR 304
Description: p38 MAPK Antibody detects endogenous levels of total p38 MAPK.

p38 MAPK Antibody

AF6456 200ul
EUR 304
Description: p38 MAPK Antibody detects endogenous levels of total p38 MAPK.

p38 MAPK Antibody

AF6457 200ul
EUR 304
Description: p38 MAPK Antibody detects endogenous levels of total p38 MAPK.

anti-p38 MAPK

LF-PA0160 100 ul
EUR 334
Description: Rabbit polyclonal to p38 MAPK

Anti-p38 alpha

DB-1039 100 tests
EUR 474

Anti-p38 beta

DB-1040 100 tests
EUR 474

Anti-p38 gamma

DB-1041 100 tests
EUR 474

Anti-p38 delta

DB-1042 100 tests
EUR 474

Anti-p38-a

DB-161-0.05 50 μl
EUR 269

Anti-p38-a

DB-161-0.1 100 μl
EUR 422

Anti-p38-b

DB-162-0.05 50 μl
EUR 269

Anti-p38-b

DB-162-0.1 100 μl
EUR 422

Anti-p38-g

DB-163-0.05 50 μl
EUR 269

Anti-p38-g

DB-163-0.1 100 μl
EUR 422

Anti-p38-d

DB-164-0.05 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.

Leave a Reply

Your email address will not be published.