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.

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	MedChemExpress	100mg	EUR 1221

BGB-102
HY-15732	MedChemExpress	10mg	EUR 6041

EL-102
HY-16187	MedChemExpress	10mM/1mL	EUR 376

MM-102
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
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
B3504-10	ApexBio	10 mg	EUR 242

PPQ-102
B3504-5	ApexBio	5 mg	EUR 151

PPQ-102
B3504-50	ApexBio	50 mg	EUR 863

PM 102
B5517-1	ApexBio	1 mg	EUR 601

MM-102
B2364-25	Biovision		EUR 588

MM-102
B2364-5	Biovision		EUR 185

p38 protein
E20-80078	EnoGene	20ug	EUR 408

p38 protein
E20-80079	EnoGene	20ug	EUR 408

p38 Antibody
20-abx133223	Abbexa	EUR 300.00 EUR 439.00 EUR 189.00	100 ul 200 ul 30 ul

p38 Antibody
20-abx007541	Abbexa	EUR 300.00 EUR 439.00 EUR 189.00	100 ul 200 ul 30 ul

p38 Antibody
abx236076-100ug	Abbexa	100 ug	EUR 481

p38 Antibody
20-abx141038	Abbexa	EUR 356.00 EUR 537.00 EUR 217.00	100 ul 200 ul 30 ul

p38 Antibody
35478-100ul	SAB	100ul	EUR 390

p38 Antibody
48644-100ul	SAB	100ul	EUR 333

p38 Antibody
48644-50ul	SAB	50ul	EUR 239

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

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

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

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

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

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

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

LB (Lennox)
102	AthenaES	500 g	EUR 101

BP-1-102
HY-100493	MedChemExpress	100mg	EUR 1345

MM-102 (TFA)
HY-12220A	MedChemExpress	10mM/1mL	EUR 263

SB-203580 p38 MAPK(p38 MAP kinase) Inhibitor
E1B1863	EnoGene	1mg	EUR 161

p38 Polyclonal Antibody
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
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
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
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
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
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
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
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
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
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
20-abx133058	Abbexa	EUR 314.00 EUR 467.00 EUR 203.00	100 ul 200 ul 30 ul

p38 (pY182) Antibody
20-abx134951	Abbexa	EUR 384.00 EUR 606.00 EUR 230.00	100 ul 200 ul 30 ul

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

p38 Polyclonal Antibody
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
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
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
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
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
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
20-abx061736	Abbexa	EUR 258.00 EUR 384.00	1 mg 5 mg

p38 Blocking Peptide
20-abx062080	Abbexa	EUR 272.00 EUR 411.00	1 mg 5 mg

p38 (pT180) Antibody
20-abx009863	Abbexa	EUR 314.00 EUR 467.00 EUR 203.00	100 ul 200 ul 30 ul

p38 MAPK Antibody
20-abx012798	Abbexa	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	Abbexa	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	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
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
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
abx236077-100ug	Abbexa	100 ug	EUR 481

p38 Blocking Peptide
20-abx161932	Abbexa	EUR 272.00 EUR 411.00	1 mg 5 mg

Anti-p38 antibody
STJ94876	St John's Laboratory	200 µl	EUR 197
Description: Rabbit polyclonal to p38.

Anti-p38 antibody
STJ94877	St John's Laboratory	200 µl	EUR 197
Description: Rabbit polyclonal to p38.

Anti-p38 antibody
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
STJ94879	St John's Laboratory	200 µl	EUR 197
Description: Rabbit polyclonal to p38.

Anti-P38 antibody
STJ98898	St John's Laboratory	200 µl	EUR 197
Description: Mouse monoclonal to P38.

Anti-P38 antibody
STJ98899	St John's Laboratory	200 µl	EUR 197
Description: Mouse monoclonal to P38.

Anti-p38 antibody
STJ97615	St John's Laboratory	200 µl	EUR 197
Description: Rabbit polyclonal to p38.

p38 Polyclonal Antibody
41305-100ul	SAB	100ul	EUR 252

p38 Polyclonal Antibody
41305-50ul	SAB	50ul	EUR 187

p38 Polyclonal Antibody
41306-100ul	SAB	100ul	EUR 252

p38 Polyclonal Antibody
41306-50ul	SAB	50ul	EUR 187

p38 alpha-MAPK14
RA15053	Neuromics	100 ug	EUR 526

anti- p38 antibody
FNab06076	FN Test	100µg	EUR 505.25
Description: Antibody raised against p38

p38 MAPK Antibody
49379-100ul	SAB	100ul	EUR 333

p38 MAPK Antibody
49379-50ul	SAB	50ul	EUR 239

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

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

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

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

Anti-p38 alpha
DB-1039	DB Biotech	100 tests	EUR 474

Anti-p38 beta
DB-1040	DB Biotech	100 tests	EUR 474

Anti-p38 gamma
DB-1041	DB Biotech	100 tests	EUR 474

Anti-p38 delta
DB-1042	DB Biotech	100 tests	EUR 474

Anti-p38-a
DB-161-0.05	DB Biotech	50 μl	EUR 269

Anti-p38-a
DB-161-0.1	DB Biotech	100 μl	EUR 422

Anti-p38-b
DB-162-0.05	DB Biotech	50 μl	EUR 269

Anti-p38-b
DB-162-0.1	DB Biotech	100 μl	EUR 422

Anti-p38-g
DB-163-0.05	DB Biotech	50 μl	EUR 269

Anti-p38-g
DB-163-0.1	DB Biotech	100 μl	EUR 422

Anti-p38-d
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.