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.

p38

MBS8533658-01mLAF405S 0.1mL(AF405S)
EUR 565

p38

MBS8533658-01mLAF610 0.1mL(AF610)
EUR 565

p38

MBS8533658-01mLAF635 0.1mL(AF635)
EUR 565

P38 mAb

MBS435304-005mL 0.05mL
EUR 415

P38 mAb

MBS435304-01mL 0.1mL
EUR 660

P38 mAb

MBS435304-5x01mL 5x0.1mL
EUR 2655

p38 MAPK

E8ET1702-65 100ul
EUR 275
Description: Available in various conjugation types.

Mxi2, p38

MBS603655-01mg 0.1mg
EUR 820

Mxi2, p38

MBS603655-5x01mg 5x0.1mg
EUR 3530

p38 MAPK

MBS8534372-01mL 0.1mL
EUR 345

p38 MAPK

MBS8534372-01mLAF405L 0.1mL(AF405L)
EUR 565

p38 MAPK

MBS8534372-01mLAF405S 0.1mL(AF405S)
EUR 565

p38 MAPK

MBS8534372-01mLAF610 0.1mL(AF610)
EUR 565

p38 MAPK

MBS8534372-01mLAF635 0.1mL(AF635)
EUR 565

p38 protein

E20-80078 20ug
EUR 275
Description: N/A

p38 protein

E20-80079 20ug
EUR 275
Description: N/A

p38 protein

MBS8526800-002mg 0.02mg
EUR 345

p38 protein

MBS8526800-5x002mg 5x0.02mg
EUR 1410

p38 protein

MBS8526801-002mg 0.02mg
EUR 345

p38 protein

MBS8526801-5x002mg 5x0.02mg
EUR 1410

p38 Antibody

20-abx141038
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  • 100 ul
  • 200 ul
  • 30 ul

p38 Antibody

20-abx133223
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  • 100 ul
  • 200 ul
  • 30 ul

p38 Antibody

20-abx007541
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  • 100 ul
  • 200 ul
  • 30 ul

p38 Antibody

48644 100ul
EUR 499

p38 Antibody

48644-100ul 100ul
EUR 399.6

p38 Antibody

48644-50ul 50ul
EUR 286.8

p38 Antibody

35478 100ul
EUR 479

p38 Antibody

35478-100ul 100ul
EUR 468

p38 Antibody

abx236076-100ug 100 ug
EUR 577.2

p38 Antibody

E38PA4721 100ul
EUR 225
Description: Available in various conjugation types.

p38 Antibody

E38PA5060 100ul
EUR 225
Description: Available in various conjugation types.

p38 Antibody

E38PA5094 100ul
EUR 225
Description: Available in various conjugation types.

p38 Antibody

E38PA7126 100ul
EUR 225
Description: Available in various conjugation types.

p38 Antibody

E38PA3186 100ul
EUR 225
Description: Available in various conjugation types.

p38 antibody

70R-51505 100 ul
EUR 242
Description: Purified Polyclonal p38 antibody

p38 antibody

70R-51506 100 ul
EUR 286
Description: Purified Polyclonal p38 antibody

p38 Antibody

abx236076-100g 100 µg
EUR 350

p38 Antibody

MBS9409774-01mL 0.1mL
EUR 420

p38 Antibody

MBS9409774-5x01mL 5x0.1mL
EUR 1740

p38 Antibody

MBS806203-0025mL 0.025mL
EUR 320

p38 Antibody

MBS8002013-0025mL 0.025mL
EUR 315

p38 Antibody

MBS8002013-5x0025mL 5x0.025mL
EUR 890

p38 Antibody

MBS805089-01mL 0.1mL
EUR 425

p38 Antibody

MBS805089-5x01mL 5x0.1mL
EUR 1350

p38 Antibody

MBS8584173-01mL 0.1mL
EUR 305

p38 Antibody

MBS8584173-01mLAF405L 0.1mL(AF405L)
EUR 465

p38 Antibody

MBS8584173-01mLAF405S 0.1mL(AF405S)
EUR 465

p38 Antibody

MBS8584173-01mLAF610 0.1mL(AF610)
EUR 465

p38 Antibody

MBS8584173-01mLAF635 0.1mL(AF635)
EUR 465

p38 Antibody

MBS8582665-01mL 0.1mL
EUR 305

p38 Antibody

MBS8582665-01mLAF405L 0.1mL(AF405L)
EUR 465

p38 Antibody

MBS8582665-01mLAF405S 0.1mL(AF405S)
EUR 465

p38 Antibody

MBS8582665-01mLAF610 0.1mL(AF610)
EUR 465

p38 Antibody

MBS8582665-01mLAF635 0.1mL(AF635)
EUR 465

p38 Antibody

MBS8582905-01mL 0.1mL
EUR 305

p38 Antibody

MBS8582905-01mLAF405L 0.1mL(AF405L)
EUR 465

p38 Antibody

MBS8582905-01mLAF405S 0.1mL(AF405S)
EUR 465

p38 Antibody

MBS8582905-01mLAF610 0.1mL(AF610)
EUR 465

p38 Antibody

MBS8582905-01mLAF635 0.1mL(AF635)
EUR 465

p38 Antibody

MBS8582923-01mL 0.1mL
EUR 305

p38 Antibody

MBS8582923-01mLAF405L 0.1mL(AF405L)
EUR 465

p38 Antibody

MBS8582923-01mLAF405S 0.1mL(AF405S)
EUR 465

p38 Antibody

MBS8582923-01mLAF610 0.1mL(AF610)
EUR 465

p38 Antibody

MBS8582923-01mLAF635 0.1mL(AF635)
EUR 465

p38 Antibody

MBS8581787-01mL 0.1mL
EUR 305

p38 Antibody

MBS8581787-01mLAF405L 0.1mL(AF405L)
EUR 465

p38 Antibody

MBS8581787-01mLAF405S 0.1mL(AF405S)
EUR 465

p38 Antibody

MBS8581787-01mLAF610 0.1mL(AF610)
EUR 465

p38 Antibody

MBS8581787-01mLAF635 0.1mL(AF635)
EUR 465

p38 Antibody

MBS5316121-01mL 0.1mL
EUR 460

p38 Antibody

MBS5316121-5x01mL 5x0.1mL
EUR 1920

p38 Antibody

MBS5316122-01mL 0.1mL
EUR 535

p38 Antibody

MBS5316122-5x01mL 5x0.1mL
EUR 2270

p38 Antibody

MBS9435492-005mL 0.05mL
EUR 325

p38 Antibody

MBS9435492-01mL 0.1mL
EUR 435

p38 Antibody

MBS9435492-5x01mL 5x0.1mL
EUR 1810

p38 Antibody

MBS9508977-005mL 0.05mL
EUR 285

p38 Antibody

MBS9508977-01mL 0.1mL
EUR 385

p38 Antibody

MBS9508977-5x01mL 5x0.1mL
EUR 1590

p38 Antibody

B0798-100ul 100μl
EUR 217
Description: p38 Rabbit Polyclonal Antibody

p38 Antibody

B0798-50ul 50μl
EUR 143.5
Description: p38 Rabbit Polyclonal Antibody

p38 Antibody

B0799-100ul 100μl
EUR 217
Description: p38 Rabbit Polyclonal Antibody

p38 Antibody

B0799-50ul 50μl
EUR 143.5
Description: p38 Rabbit Polyclonal Antibody

p38 Antibody

B7178-100ul 100μl
EUR 217
Description: p38 Rabbit Polyclonal Antibody

p38 Antibody

B7178-50ul 50μl
EUR 143.5
Description: p38 Rabbit Polyclonal Antibody

p38 Substrate

MBS517838-1mg 1mg
EUR 205

p38 Substrate

MBS517838-5x1mg 5x1mg
EUR 675

MAP Kinase p38, Control Cell Extracts (Mitogen Activated Protein Kinase p38, MAPK p38)

MBS657552-10Blots 10Blots
EUR 430

MAP Kinase p38, Control Cell Extracts (Mitogen Activated Protein Kinase p38, MAPK p38)

MBS657552-5x10Blots 5x10Blots
EUR 1785

MAP Kinase p38, phosphorylated (Thr180, Tyr182) (Mitogen Activated Protein Kinase p38, MAPK p38)

MBS630803-02mL 0.2mL
EUR 650

MAP Kinase p38, phosphorylated (Thr180, Tyr182) (Mitogen Activated Protein Kinase p38, MAPK p38)

MBS630803-06mL 0.6mL
EUR 1175

MAP Kinase p38, phosphorylated (Thr180, Tyr182) (Mitogen Activated Protein Kinase p38, MAPK p38)

MBS630803-5x06mL 5x0.6mL
EUR 5140

MAP Kinase p38, phosphorylated (Thr180, Ty182) (Mitogen Activated Protein Kinase p38, MAPK p38)

MBS632290-02mL 0.2mL
EUR 660

MAP Kinase p38, phosphorylated (Thr180, Ty182) (Mitogen Activated Protein Kinase p38, MAPK p38)

MBS632290-5x02mL 5x0.2mL
EUR 2810

MAP Kinase p38, phosphorylated (Thr180, Ty182) (Mitogen Activated Protein Kinase p38, MAPK p38)

MBS633592-01mL 0.1mL
EUR 695

MAP Kinase p38, phosphorylated (Thr180, Ty182) (Mitogen Activated Protein Kinase p38, MAPK p38)

MBS633592-5x01mL 5x0.1mL
EUR 2985

MAP Kinase p38, phosphorylated (Thr180, Tyr182) (Mitogen Activated Protein Kinase p38, MAPK p38)

MBS627818-10Blots 10Blots
EUR 875

MAP Kinase p38, phosphorylated (Thr180, Tyr182) (Mitogen Activated Protein Kinase p38, MAPK p38)

MBS627818-5x10Blots 5x10Blots
EUR 3785

SB-203580 p38 MAPK(p38 MAP kinase) Inhibitor

E1B1863 1mg
EUR 85

SB-203580 p38 MAPK (p38 MAP kinase) Inhibitor

MBS8579825-1mg 1mg
EUR 180

SB-203580 p38 MAPK (p38 MAP kinase) Inhibitor

MBS8579825-5x1mg 5x1mg
EUR 660

p38 (411-425) M.leprae

MBS8246858-10mg 10mg
EUR 675

p38 (411-425) M.leprae

MBS8246858-1mg 1mg
EUR 255

p38 (411-425) M.leprae

MBS8246858-5mg 5mg
EUR 480

p38 (411-425) M.leprae

MBS8246858-5x10mg 5x10mg
EUR 2955

MAP Kinase p38, phosphorylated (Thr180, Ty182) (Mitogen Activated Protein Kinase p38, MAPK p38) (Agarose)

MBS631660-04mL 0.4mL
EUR 670

MAP Kinase p38, phosphorylated (Thr180, Ty182) (Mitogen Activated Protein Kinase p38, MAPK p38) (Agarose)

MBS631660-5x04mL 5x0.4mL
EUR 2870

Anti - p38-a

MBS684252-002mL 0.02mL
EUR 270

Anti - p38-a

MBS684252-005mL 0.05mL
EUR 485

Anti - p38-a

MBS684252-01mL 0.1mL
EUR 720

Anti - p38-a

MBS684252-5x01mL 5x0.1mL
EUR 2925

Anti - p38-b

MBS684253-002mL 0.02mL
EUR 270

Anti - p38-b

MBS684253-005mL 0.05mL
EUR 485

Anti - p38-b

MBS684253-01mL 0.1mL
EUR 720

Anti - p38-b

MBS684253-5x01mL 5x0.1mL
EUR 2925

Anti - p38-g

MBS684254-002mL 0.02mL
EUR 270

Anti - p38-g

MBS684254-005mL 0.05mL
EUR 485

Anti - p38-g

MBS684254-01mL 0.1mL
EUR 720

Anti - p38-g

MBS684254-5x01mL 5x0.1mL
EUR 2925

Anti - p38-d

MBS684255-002mL 0.02mL
EUR 270

Anti - p38-d

MBS684255-005mL 0.05mL
EUR 485

Anti - p38-d

MBS684255-01mL 0.1mL
EUR 720

Anti - p38-d

MBS684255-5x01mL 5x0.1mL
EUR 2925

p38 Mouse mAb

E2220879 100ul
EUR 225
Description: Available in various conjugation types.

p38 Mouse mAb

E2222580 100ul
EUR 255
Description: Biotin-Conjugated, FITC-Conjugated , AF350 Conjugated , AF405M-Conjugated ,AF488-Conjugated, AF514-Conjugated ,AF532-Conjugated, AF555-Conjugated ,AF568-Conjugated , HRP-Conjugated, AF405S-Conjugated, AF405L-Conjugated , AF546-Conjugated, AF594-Conjugated , AF610-Conjugated, AF635-Conjugated , AF647-Conjugated , AF680-Conjugated , AF700-Conjugated , AF750-Conjugated , AF790-Conjugated , APC-Conjugated , PE-Conjugated , Cy3-Conjugated , Cy5-Conjugated , Cy5.5-Conjugated , Cy7-Conjugated Antibody

p38 Mouse mAb

MBS8539086-01mL 0.1mL
EUR 305

p38 Mouse mAb

MBS8539086-01mLAF405L 0.1mL(AF405L)
EUR 565

p38 Mouse mAb

MBS8539086-01mLAF405S 0.1mL(AF405S)
EUR 565

p38 Mouse mAb

MBS8539086-01mLAF610 0.1mL(AF610)
EUR 565

p38 Mouse mAb

MBS8539086-01mLAF635 0.1mL(AF635)
EUR 565

p38 Rabbit pAb

E2340697 100ul
EUR 225
Description: Available in various conjugation types.

p38 Rabbit pAb

E2380881 100ul
EUR 225
Description: Available in various conjugation types.

p38 Rabbit pAb

E2381051 100ul
EUR 225
Description: Available in various conjugation types.

p38 Rabbit mAb

E2R25239 100μl
EUR 225
Description: Available in various conjugation types.

p38 Rabbit mAb

E2R27123 100μl
EUR 225
Description: Available in various conjugation types.

p38 Rabbit pAb

E2251338 100ul
EUR 225
Description: Available in various conjugation types.

p38 Rabbit pAb

E2251719 100ul
EUR 225
Description: Available in various conjugation types.

anti-Crk p38

YF-PA11088 50 ul
EUR 435.6
Description: Mouse polyclonal to Crk p38

anti-Crk p38

YF-PA11089 50 ug
EUR 435.6
Description: Mouse polyclonal to Crk p38

anti-Crk p38

YF-PA11090 100 ug
EUR 483.6
Description: Rabbit polyclonal to Crk p38

anti-Crk p38

YF-PA23509 50 ul
EUR 400.8
Description: Mouse polyclonal to Crk p38

p38 Rabbit pAb

MBS8539985-01mL 0.1mL
EUR 305

p38 Rabbit pAb

MBS8539985-01mLAF405L 0.1mL(AF405L)
EUR 565

p38 Rabbit pAb

MBS8539985-01mLAF405S 0.1mL(AF405S)
EUR 565

p38 Rabbit pAb

MBS8539985-01mLAF610 0.1mL(AF610)
EUR 565

p38 Rabbit pAb

MBS8539985-01mLAF635 0.1mL(AF635)
EUR 565

p38 Rabbit pAb

MBS8540327-01mL 0.1mL
EUR 305

p38 Rabbit pAb

MBS8540327-01mLAF405L 0.1mL(AF405L)
EUR 565

p38 Rabbit pAb

MBS8540327-01mLAF405S 0.1mL(AF405S)
EUR 565

p38 Rabbit pAb

MBS8540327-01mLAF610 0.1mL(AF610)
EUR 565

p38 Rabbit pAb

MBS8540327-01mLAF635 0.1mL(AF635)
EUR 565

p38 Rabbit pAb

MBS8541727-01mL 0.1mL
EUR 305

p38 Rabbit pAb

MBS8541727-01mLAF405L 0.1mL(AF405L)
EUR 565

p38 Rabbit pAb

MBS8541727-01mLAF405S 0.1mL(AF405S)
EUR 565

p38 Rabbit pAb

MBS8541727-01mLAF610 0.1mL(AF610)
EUR 565

p38 Rabbit pAb

MBS8541727-01mLAF635 0.1mL(AF635)
EUR 565

p38 Rabbit pAb

MBS8542346-01mL 0.1mL
EUR 305

p38 Rabbit pAb

MBS8542346-01mLAF405L 0.1mL(AF405L)
EUR 565

p38 Rabbit pAb

MBS8542346-01mLAF405S 0.1mL(AF405S)
EUR 565

p38 Rabbit pAb

MBS8542346-01mLAF610 0.1mL(AF610)
EUR 565

p38 Rabbit pAb

MBS8542346-01mLAF635 0.1mL(AF635)
EUR 565

p38 Rabbit pAb

MBS8542516-01mL 0.1mL
EUR 305

p38 Rabbit pAb

MBS8542516-01mLAF405L 0.1mL(AF405L)
EUR 565

p38 Rabbit pAb

MBS8542516-01mLAF405S 0.1mL(AF405S)
EUR 565

p38 Rabbit pAb

MBS8542516-01mLAF610 0.1mL(AF610)
EUR 565

p38 Rabbit pAb

MBS8542516-01mLAF635 0.1mL(AF635)
EUR 565

p38 HOG Kinase

MBS395428-025mg 0.25mg
EUR 425

p38 HOG Kinase

MBS395428-5x025mg 5x0.25mg
EUR 1760

p38 Rabbit mAb

MBS4752931-01mL 0.1mL
EUR 450

p38 Rabbit mAb

MBS4752931-5x01mL 5x0.1mL
EUR 1540

p38 Rabbit mAb

MBS4754198-01mL 0.1mL
EUR 450

p38 Rabbit mAb

MBS4754198-5x01mL 5x0.1mL
EUR 1540

p38 beta, Active

7763-100 each
EUR 5214

p38 beta, Active

7763-5 each
EUR 444

p38 beta protein

30R-2875 5 ug
EUR 425
Description: Purified recombinant Human p38 beta protein

Crk p38 Antibody

AF6323 200ul
EUR 420

Crk p38 Antibody

AF6323-100ul 100ul
EUR 280

Crk p38 Antibody

AF6323-200ul 200ul
EUR 350

anti-AIMP2/p38

YF-PA15507 50 ug
EUR 435.6
Description: Mouse polyclonal to AIMP2/p38

Crk Antibody p38

R31526 100 ug
EUR 356.15
Description: CRK, also known as p38, is a protein that in humans is encoded by the CRK gene. This gene is a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. It is mapped to 17p13.3. The protein participates in the Reelin signaling cascade downstream of DAB1. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of Crk functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity have been described.

p38 Hog Antibody

P9809 100ug
EUR 259

p38 Antibody: HRP

MBS805179-01mL 0.1mL
EUR 455

p38 Antibody: HRP

MBS805179-5x01mL 5x0.1mL
EUR 1505

p38 Antibody: RPE

MBS805299-01mL 0.1mL
EUR 465

p38 Antibody: RPE

MBS805299-5x01mL 5x0.1mL
EUR 1535

p38 (C20) Antibody

MBS440021-02mg 0.2mg
EUR 285

p38 (C20) Antibody

MBS440021-5x02mg 5x0.2mg
EUR 1185

p38 MAPK Antibody

20-abx012798
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  • Ask for price
  • Ask for price
  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg

p38 MAPK Antibody

20-abx012875
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  • Ask for price
  • Ask for price
  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg

p38 MAPK antibody

10R-8422 100 ul
EUR 471.6
Description: Mouse monoclonal p38 MAPK antibody


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.

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