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Genotype and phenotype-based subgroups in geographic atrophy secondary to age-related macular degeneration. The EYE-RISK Consortium.
geographic atrophy secondary to age-related macular degeneration (GA) is considered one unit. This study aims to determine whether there is a subgroup of GA that can be defined by the genotype and phenotype.
Retrospective analysis of cross-sectional data.Individuals (196 eyes of 196 patients) 50 years or older with a GA of database.Participants EYE-RISK assessed for the presence of of each of the following features on a color fundus fundus photography: large soft drusen, reticular pseudodrusen (RPD), drusen refractile, hyperpigmentation, atrophy location (foveal vs. extrafoveal) and multifocal lesions.
Genotype thirty-three single nucleotide polymorphisms that were previously assigned to complement, lipid metabolism or extracellular matrix (ECM) pathway, and ARMS2, are also included, and the genetic risk score (GRS) for each of the three lines is calculated. hierarchical cluster analysis is used to determine a subgroup of participants defined by this feature. Discriminatory ability of the genotype, phenotype, or both for each subgroup defined by 10-fold cross-validated in the area under the curve (cvAUC) and subgroup membership agreement between predicted and actual assessed plots.Identification calibration and characterization GA subgroups based on their phenotype and genotype .Cluster analysis identified three subgroups of GA.
Subgroup 1 characterized by high complementary GRS, often associated with large soft drusen and foveal atrophy; subgroup 2 generally indicates a low GRS, foveal atrophy and some drusen (all types); and subgroup 3 ARMS2 presented high and ECM GRS, RPD and atrophy extrafoveal. There is a high discriminating ability between subgroups for genotype (cvAUC≥0.94) and simple to phenotype (cvAUC <0.65), with both calibration.We identified three distinct subgroups GA mostly by their genotype. Atrophy of the location and type of drusen is the most relevant phenotypic features.
Genotype and phenotype-based subgroups in geographic atrophy secondary to age-related macular degeneration. The EYE-RISK Consortium.
CRB1 retinal degeneration associated with new mutations.
To describe a new genetic mutations and genes not previously reported in CRB1 in patients with retinal dystrophy. To improve understanding of the genotype-phenotype-related retinal degenerative diseases CRB1 and describe the patient’s response to therapy.Patient evaluated for progressive loss of central vision and peripheral . Fundus photography, fundus autofluorescence (FAF), fluorescein angiography (FA), and eye-coherence tomography (OCT) used in the evaluation.
Genetic screening is done to explore the underlying mutation. Genetics reveals previously reported, pathogenic variants in genes CRB1 (c.2842 + 5G> A), and a new mutation (c.4014T> A) which is clinically uncertain because of the lack of conclusive evidence. This case is unique phenotype CME is refractory to therapy, while CME in CRB1 related maculopathy usually responds well to study the phenotypic treatment.
CD16/CD56
16F256PE-50T
ImmunoStep
50 test
EUR 420.36
CD16 PE
MBS396527-100Tests
MyBiosource
100Tests
EUR 345
CD16 PE
MBS396527-5x100Tests
MyBiosource
5x100Tests
EUR 1410
human CD16
mab-SF-C048
Antagene
0.2mg
EUR 180
CD16 Biotin
MBS396601-100Tests
MyBiosource
100Tests
EUR 310
CD16 Biotin
MBS396601-5x100Tests
MyBiosource
5x100Tests
EUR 1250
CD16 antibody
10R-CD16bHU
Fitzgerald
100 ug
EUR 1544
Description: Mouse monoclonal CD16 antibody
CD16 antibody
10R-CD16cHU
Fitzgerald
100 ug
EUR 333
Description: Mouse monoclonal CD16 antibody
CD16 antibody
10R-CD16DHU-S
Fitzgerald
100 ug
EUR 147
Description: Mouse anti-Human Monoclonal CD16 antibody
CD16 antibody
10R-CD16gMS
Fitzgerald
500 ug
EUR 315
Description: Rat monoclonal CD16 antibody
CD16 antibody
10R-6359
Fitzgerald
100 ug
EUR 258
Description: Mouse monoclonal CD16 antibody
CD16 Antibody
C30330-100ul
Assay Biotech
100μl
EUR 217
Description: CD16 Rabbit Polyclonal Antibody
CD16 Antibody
C30330-50ul
Assay Biotech
50μl
EUR 143.5
Description: CD16 Rabbit Polyclonal Antibody
CD16 Antibody
abx228135-100g
Abbexa
100 µg
EUR 106.25
CD16 Antibody
E38PA9135
EnoGene
100ul
EUR 225
Description: Available in various conjugation types.
CD16 Antibody
E10-31387
EnoGene
100ul
EUR 225
Description: Available in various conjugation types.
CD16 antibody
MBS530474-5x01mg
MyBiosource
5x0.1mg
EUR 2775
CD16 antibody
MBS531530-5x05mg
MyBiosource
5x0.5mg
EUR 2500
CD16 antibody
MBS531983-01mg
MyBiosource
0.1mg
EUR 2225
CD16 antibody
MBS531983-5x01mg
MyBiosource
5x0.1mg
EUR 9870
CD16 antibody
MBS531500-INQUIRE
MyBiosource
INQUIRE
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CD16 Antibody
MBS8584306-01mL
MyBiosource
0.1mL
EUR 305
CD16 Antibody
MBS8584306-01mLAF405L
MyBiosource
0.1mL(AF405L)
EUR 465
CD16 Antibody
MBS8584306-01mLAF405S
MyBiosource
0.1mL(AF405S)
EUR 465
CD16 Antibody
MBS8584306-01mLAF610
MyBiosource
0.1mL(AF610)
EUR 465
CD16 Antibody
MBS8584306-01mLAF635
MyBiosource
0.1mL(AF635)
EUR 465
CD16+CD32 Antibody
20-abx200727
Abbexa
Ask for price
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CD16 Mouse mAb
E2222478
EnoGene
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
CD16 (FcRIII) (PE)
MBS6251457-01mL
MyBiosource
0.1(mL
EUR 865
CD16 (FcRIII) (PE)
MBS6251457-5x01mL
MyBiosource
5x0.1mL
EUR 3750
CD16 (FcRIII) (AP)
MBS6247499-01mL
MyBiosource
0.1(mL
EUR 865
CD16 (FcRIII) (AP)
MBS6247499-5x01mL
MyBiosource
5x0.1mL
EUR 3750
CD16 Mouse mAb
MBS4753718-01mL
MyBiosource
0.1mL
EUR 450
CD16 Mouse mAb
MBS4753718-5x01mL
MyBiosource
5x0.1mL
EUR 1540
CD16 Mouse mAb
MBS8808553-005mL
MyBiosource
0.05mL
EUR 175
CD16 Mouse mAb
MBS8808553-01mL
MyBiosource
0.1mL
EUR 240
CD16 Mouse mAb
MBS8808553-5x01mL
MyBiosource
5x0.1mL
EUR 1060
CD16 Rabbit pAb
A18701
Abclonal
50μL
EUR 173.58
CD16 Rabbit mAb
56554
SAB
100ul
EUR 339
CD16 Rabbit mAb
A23540
Abclonal
200μL
EUR 343.62
Description: Recombinant fusion protein containing a sequence corresponding to amino acids 504-685 of human DNA Ligase IV (P49917).
CD16 Rabbit mAb
A23541
Abclonal
20μL
EUR 88.56
Description: Recombinant fusion protein containing a sequence corresponding to amino acids 39-162 of human TNFRSF14/HVEM(NP_003811.2)
CD16 Rabbit pAb
E2382483
EnoGene
100ul
EUR 225
Description: Available in various conjugation types.
CD16 Rabbit mAb
E2R383296
EnoGene
100ul
EUR 275
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
CD16 Rabbit pAb
E2251758
EnoGene
100ul
EUR 225
Description: Available in various conjugation types.
CD16 Rabbit pAb
E47R6028
EnoGene
100ul
EUR 295
CD16 (FcRIII) (HRP)
MBS6250439-01mL
MyBiosource
0.1(mL
EUR 865
CD16 (FcRIII) (HRP)
MBS6250439-5x01mL
MyBiosource
5x0.1mL
EUR 3750
CD16 (FcRIII) (APC)
MBS6268357-01mL
MyBiosource
0.1mL
EUR 865
CD16 (FcRIII) (APC)
MBS6268357-5x01mL
MyBiosource
5x0.1mL
EUR 3750
CD16 Rabbit pAb
MBS8540363-01mL
MyBiosource
0.1mL
EUR 305
CD16 Rabbit pAb
MBS8540363-01mLAF405L
MyBiosource
0.1mL(AF405L)
EUR 565
CD16 Rabbit pAb
MBS8540363-01mLAF405S
MyBiosource
0.1mL(AF405S)
EUR 565
CD16 Rabbit pAb
MBS8540363-01mLAF610
MyBiosource
0.1mL(AF610)
EUR 565
CD16 Rabbit pAb
MBS8540363-01mLAF635
MyBiosource
0.1mL(AF635)
EUR 565
CD16 Rabbit pAb
MBS8575667-01mL
MyBiosource
0.1mL
EUR 305
CD16 Rabbit pAb
MBS8575667-01mLAF405L
MyBiosource
0.1mL(AF405L)
EUR 565
CD16 Rabbit pAb
MBS8575667-01mLAF405S
MyBiosource
0.1mL(AF405S)
EUR 565
CD16 Rabbit pAb
MBS8575667-01mLAF610
MyBiosource
0.1mL(AF610)
EUR 565
CD16 Rabbit pAb
MBS8575667-01mLAF635
MyBiosource
0.1mL(AF635)
EUR 565
CD16 antibody (PE)
61R-CD16cHUPE
Fitzgerald
120 tests
EUR 556
Description: Mouse monoclonal CD16 antibody (PE)
CD16 antibody (PE)
61R-CD16gMSPE
Fitzgerald
200 ug
EUR 279
Description: Rat monoclonal CD16 antibody (PE)
CD16/32 antibody
10R-6358
Fitzgerald
100 ug
EUR 147
Description: Rat monoclonal CD16/32 antibody
CD16/32 Antibody
abx228093-100g
Abbexa
100 µg
EUR 100
CD16/32 Antibody
abx228094-100g
Abbexa
100 µg
EUR 50
CD16 Antibody (PE)
abx228138-100g
Abbexa
100 µg
EUR 93.75
Mouse Human CD16
E2790143
EnoGene
100ul
EUR 225
Description: Available in various conjugation types.
CD16 (FcRIII) (FITC)
MBS6249525-01mL
MyBiosource
0.1(mL
EUR 865
CD16 (FcRIII) (FITC)
MBS6249525-5x01mL
MyBiosource
5x0.1mL
EUR 3750
CD16 antibody (PE)
MBS531183-120Tests
MyBiosource
120Tests
EUR 940
CD16 antibody (PE)
MBS531183-5x120Tests
MyBiosource
5x120Tests
EUR 4085
CD16 antibody (PE)
MBS531231-01mg
MyBiosource
0.1mg
EUR 540
CD16 antibody (PE)
MBS531231-02mg
MyBiosource
0.2mg
EUR 715
CD16 antibody (PE)
MBS531231-5x02mg
MyBiosource
5x0.2mg
EUR 3060
CD16/32 antibody
MBS833542-005mg
MyBiosource
0.05mg
EUR 300
CD16/32 antibody
MBS833542-01mg
MyBiosource
0.1mg
EUR 405
CD16/32 antibody
MBS833542-5x01mg
MyBiosource
5x0.1mg
EUR 1665
Mouse Human CD16
MBS8559190-01mL
MyBiosource
0.1mL
EUR 305
Mouse Human CD16
MBS8559190-01mLAF405L
MyBiosource
0.1mL(AF405L)
EUR 565
Mouse Human CD16
MBS8559190-01mLAF405S
MyBiosource
0.1mL(AF405S)
EUR 565
Mouse Human CD16
MBS8559190-01mLAF610
MyBiosource
0.1mL(AF610)
EUR 565
Mouse Human CD16
MBS8559190-01mLAF635
MyBiosource
0.1mL(AF635)
EUR 565
CD16 Antibody (APC)
abx228139-100g
Abbexa
100 µg
EUR 93.75
CD16 antibody (FITC)
61R-CD16aHUFT
Fitzgerald
100 tests
EUR 481
Description: Mouse monoclonal CD16 antibody (FITC)
CD16 antibody (FITC)
61R-CD16gMSFT
Fitzgerald
500 ug
EUR 395
Description: Rat monoclonal CD16 antibody (FITC)
CD16 Antibody (FITC)
abx133973-100Assays
Abbexa
100 Assays
EUR 526.8
CD16 Antibody (FITC)
abx133973-50Assays
Abbexa
50 Assays
EUR 410.4
CD16 Antibody (FITC)
abx139438-100l
Abbexa
100 µl
EUR 350
CD16 Antibody (FITC)
abx139438-100tests
Abbexa
100 tests
EUR 510
CD16 Antibody (FITC)
abx139438-500l
Abbexa
500 µl
Ask for price
CD16 Antibody (FITC)
abx139440-100l
Abbexa
100 µl
EUR 350
CD16 Antibody (FITC)
abx139440-100tests
Abbexa
100 tests
EUR 510
CD16 Antibody (FITC)
abx139440-500l
Abbexa
500 µl
Ask for price
CD16 Antibody (FITC)
abx139446-100l
Abbexa
100 µl
EUR 350
CD16 Antibody (FITC)
abx139446-100tests
Abbexa
100 tests
EUR 510
CD16 Antibody (FITC)
abx139446-500l
Abbexa
500 µl
Ask for price
CD16 Antibody (FITC)
abx228137-100g
Abbexa
100 µg
EUR 93.75
CD16 Antibody (FITC)
abx200144-100tests
Abbexa
100 tests
EUR 493.2
CD16 Antibody (FITC)
abx200152-100tests
Abbexa
100 tests
EUR 477.6
CD16(HO80) Antibody
BNC801056-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against CD16(HO80), CF680 conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNC801056-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against CD16(HO80), CF680 conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNC811056-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against CD16(HO80), CF680R conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNC811056-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against CD16(HO80), CF680R conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNC431056-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against CD16(HO80), CF543 conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNC431056-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against CD16(HO80), CF543 conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNC051056-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against CD16(HO80), CF405M conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNC051056-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against CD16(HO80), CF405M conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNC611056-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against CD16(HO80), CF660R conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNC611056-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against CD16(HO80), CF660R conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNCA1056-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against CD16(HO80), APC conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNC701056-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against CD16(HO80), CF770 conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNC701056-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against CD16(HO80), CF770 conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNCH1056-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against CD16(HO80), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNCH1056-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against CD16(HO80), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL
CD16(HO80) Antibody
BNCP1056-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against CD16(HO80), PerCP conjugate, Concentration: 0.1mg/mL
This add breadth of understanding of genetic analysis in retinal degenerative conditions associated CRB1. The newly described variant mutation CRB1 c.4014T> A may predict a poor prognosis for CME responsive to therapy. Genetic testing in the event of unexplained CME might be useful to identify the underlying CRB1 variants and revealed the genotype-phenotype correlations, which can alter the treatment plan and prognosis.
Dave
