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.
Description: Low affinity immunoglobulin gamma Fc region receptor III-A is a protein that in humans is encoded by the FCGR3A gene. This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other other antibody-dependent responses. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Description: Low affinity immunoglobulin gamma Fc region receptor III-A is a protein that in humans is encoded by the FCGR3A gene. This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other other antibody-dependent responses. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Description: Fc receptors bind the most common class of antibody, IgG, are called Fc gamma receptors (FcgR). FcgR is divided into three classes, Fc gamma RI (CD64), Fc gamma RII (CD32), and Fc gamma RIII (CD16). CD16 protein is a multifunctional, low/intermediate affinity receptor, which belongs to the immunoglobulin superfamily. It is found on the surface of natural killer cells, neutrophil polymorphonuclear leukocytes, monocytes and macrophages. Mouse CD16 is encoded by a single gene, while, human CD16 is expressed as two distinct forms (CD16a/FcgRIIIa and CD16b/FcgRIIIb) encoded by two different highly homologous genes in a cell type-specific manner. CD16 is involved in phagocytosis, secretion of enzymes, inflammatory mediators, antibody-dependent cellular cytotoxicity (ADCC), and clearance of immune complexes.
Description: It recognizes CD16 (Fc gamma RIII), the low-affinity receptor for IgG with an apparent molecular weight of 50-80kDa. Two similar genes represent CD16, CD16A (Fc gamma RIIIA), which exists as a hetero-oligomeric polypeptide-anchored form in macrophages and NK cells and CD16B (Fc gamma RIIIB), which exist as a monomeric GPI-anchored form in neutrophils. Furthermore, there are two known polymorphisms of CD16B, NA-1 and NA-2. Individuals homozygous for NA-2 show a lower phagocytic capacity compared with NA-1. CD16 binds IgG in the form of immune complexes and shows preferential binding of IgG1 and IgG3 isotypes and minimal binding of IgG2 and IgG4. Upon IgG binding, both CD16 isoforms initiate signal transduction cascades that lead to a variety of responses including antibody-dependent cell-mediated cytotoxicity (ADCC), phagocytosis, degranulation and proliferation.
Description: It recognizes CD16 (Fc gamma RIII), the low-affinity receptor for IgG with an apparent molecular weight of 50-80kDa. Two similar genes represent CD16, CD16A (Fc gamma RIIIA), which exists as a hetero-oligomeric polypeptide-anchored form in macrophages and NK cells and CD16B (Fc gamma RIIIB), which exist as a monomeric GPI-anchored form in neutrophils. Furthermore, there are two known polymorphisms of CD16B, NA-1 and NA-2. Individuals homozygous for NA-2 show a lower phagocytic capacity compared with NA-1. CD16 binds IgG in the form of immune complexes and shows preferential binding of IgG1 and IgG3 isotypes and minimal binding of IgG2 and IgG4. Upon IgG binding, both CD16 isoforms initiate signal transduction cascades that lead to a variety of responses including antibody-dependent cell-mediated cytotoxicity (ADCC), phagocytosis, degranulation and proliferation.
Description: It recognizes CD16 (Fc gamma RIII), the low-affinity receptor for IgG with an apparent molecular weight of 50-80kDa. Two similar genes represent CD16, CD16A (Fc gamma RIIIA), which exists as a hetero-oligomeric polypeptide-anchored form in macrophages and NK cells and CD16B (Fc gamma RIIIB), which exist as a monomeric GPI-anchored form in neutrophils. Furthermore, there are two known polymorphisms of CD16B, NA-1 and NA-2. Individuals homozygous for NA-2 show a lower phagocytic capacity compared with NA-1. CD16 binds IgG in the form of immune complexes and shows preferential binding of IgG1 and IgG3 isotypes and minimal binding of IgG2 and IgG4. Upon IgG binding, both CD16 isoforms initiate signal transduction cascades that lead to a variety of responses including antibody-dependent cell-mediated cytotoxicity (ADCC), phagocytosis, degranulation and proliferation.
Description: Recognizes a protein of 50-65 kDa, identified as CD16 (Workshop IV; Code N39 ) (also known low affinity Fc receptor III for IgG (FcRIII) or Leu 11). CD16 exists as a polypepetide-anchored from (FCRIIIA or CD16A) on human natural killer (NK) cells and monocytes/ macrophages and as a glycosylphosphatidylinositol (GPI)-anchored form (FcRIIIB or CD16B) on neutrophils. CD16B is polymorphic and the two alleles are termed NA1 and NA2.3 CD16 plays a role in signal transduction, NK cell activation and antibody-dependent cellular cytotoxicity. This mAb has been showed to inhibit the binding of immune complex to NK cells, inhibit cytotoxicity of NK cells, and induce calcium fluxes in NK cells and neutrophils.
Description: Recognizes a protein of 50-65 kDa, identified as CD16 (Workshop IV; Code N39 ) (also known low affinity Fc receptor III for IgG (FcRIII) or Leu 11). CD16 exists as a polypepetide-anchored from (FCRIIIA or CD16A) on human natural killer (NK) cells and monocytes/ macrophages and as a glycosylphosphatidylinositol (GPI)-anchored form (FcRIIIB or CD16B) on neutrophils. CD16B is polymorphic and the two alleles are termed NA1 and NA2.3 CD16 plays a role in signal transduction, NK cell activation and antibody-dependent cellular cytotoxicity. This mAb has been showed to inhibit the binding of immune complex to NK cells, inhibit cytotoxicity of NK cells, and induce calcium fluxes in NK cells and neutrophils.
Description: Recognizes a protein of 50-65 kDa, identified as CD16 (Workshop IV; Code N39 ) (also known low affinity Fc receptor III for IgG (FcRIII) or Leu 11). CD16 exists as a polypepetide-anchored from (FCRIIIA or CD16A) on human natural killer (NK) cells and monocytes/ macrophages and as a glycosylphosphatidylinositol (GPI)-anchored form (FcRIIIB or CD16B) on neutrophils. CD16B is polymorphic and the two alleles are termed NA1 and NA2.3 CD16 plays a role in signal transduction, NK cell activation and antibody-dependent cellular cytotoxicity. This mAb has been showed to inhibit the binding of immune complex to NK cells, inhibit cytotoxicity of NK cells, and induce calcium fluxes in NK cells and neutrophils.
Description: It recognizes CD16 (Fcgamma;RIII), the low-affinity receptor for IgG with an apparent molecular weight of 50-80kDa. Two similar genes represent CD16, CD16A (Fcgamma;RIIIA), which exists as a hetero-oligomeric polypeptide-anchored form in macrophages and NK cells and CD16B (Fcgamma;RIIIB), which exist as a monomeric GPI-anchored form in neutrophils. Furthermore, there are two known polymorphisms of CD16B, NA-1 and NA-2. Individuals homozygous for NA-2 show a lower phagocytic capacity compared with NA-1. CD16 binds IgG in the form of immune complexes and shows preferential binding of IgG1 and IgG3 isotypes and minimal binding of IgG2 and IgG4. Upon IgG binding, both CD16 isoforms initiate signal transduction cascades that lead to a variety of responses including antibody-dependent cell-mediated cytotoxicity (ADCC), phagocytosis, degranulation and proliferation.
Description: It recognizes CD16 (Fcgamma;RIII), the low-affinity receptor for IgG with an apparent molecular weight of 50-80kDa. Two similar genes represent CD16, CD16A (Fcgamma;RIIIA), which exists as a hetero-oligomeric polypeptide-anchored form in macrophages and NK cells and CD16B (Fcgamma;RIIIB), which exist as a monomeric GPI-anchored form in neutrophils. Furthermore, there are two known polymorphisms of CD16B, NA-1 and NA-2. Individuals homozygous for NA-2 show a lower phagocytic capacity compared with NA-1. CD16 binds IgG in the form of immune complexes and shows preferential binding of IgG1 and IgG3 isotypes and minimal binding of IgG2 and IgG4. Upon IgG binding, both CD16 isoforms initiate signal transduction cascades that lead to a variety of responses including antibody-dependent cell-mediated cytotoxicity (ADCC), phagocytosis, degranulation and proliferation.
Description: It recognizes CD16 (Fcgamma;RIII), the low-affinity receptor for IgG with an apparent molecular weight of 50-80kDa. Two similar genes represent CD16, CD16A (Fcgamma;RIIIA), which exists as a hetero-oligomeric polypeptide-anchored form in macrophages and NK cells and CD16B (Fcgamma;RIIIB), which exist as a monomeric GPI-anchored form in neutrophils. Furthermore, there are two known polymorphisms of CD16B, NA-1 and NA-2. Individuals homozygous for NA-2 show a lower phagocytic capacity compared with NA-1. CD16 binds IgG in the form of immune complexes and shows preferential binding of IgG1 and IgG3 isotypes and minimal binding of IgG2 and IgG4. Upon IgG binding, both CD16 isoforms initiate signal transduction cascades that lead to a variety of responses including antibody-dependent cell-mediated cytotoxicity (ADCC), phagocytosis, degranulation and proliferation.
Description: It recognizes CD16 (Fcgamma;RIII), the low-affinity receptor for IgG with an apparent molecular weight of 50-80kDa. Two similar genes represent CD16, CD16A (Fcgamma;RIIIA), which exists as a hetero-oligomeric polypeptide-anchored form in macrophages and NK cells and CD16B (Fcgamma;RIIIB), which exist as a monomeric GPI-anchored form in neutrophils. Furthermore, there are two known polymorphisms of CD16B, NA-1 and NA-2. Individuals homozygous for NA-2 show a lower phagocytic capacity compared with NA-1. CD16 binds IgG in the form of immune complexes and shows preferential binding of IgG1 and IgG3 isotypes and minimal binding of IgG2 and IgG4. Upon IgG binding, both CD16 isoforms initiate signal transduction cascades that lead to a variety of responses including antibody-dependent cell-mediated cytotoxicity (ADCC), phagocytosis, degranulation and proliferation.
Description: It recognizes CD16 (Fcgamma;RIII), the low-affinity receptor for IgG with an apparent molecular weight of 50-80kDa. Two similar genes represent CD16, CD16A (Fcgamma;RIIIA), which exists as a hetero-oligomeric polypeptide-anchored form in macrophages and NK cells and CD16B (Fcgamma;RIIIB), which exist as a monomeric GPI-anchored form in neutrophils. Furthermore, there are two known polymorphisms of CD16B, NA-1 and NA-2. Individuals homozygous for NA-2 show a lower phagocytic capacity compared with NA-1. CD16 binds IgG in the form of immune complexes and shows preferential binding of IgG1 and IgG3 isotypes and minimal binding of IgG2 and IgG4. Upon IgG binding, both CD16 isoforms initiate signal transduction cascades that lead to a variety of responses including antibody-dependent cell-mediated cytotoxicity (ADCC), phagocytosis, degranulation and proliferation.
Description: It recognizes CD16 (Fcgamma;RIII), the low-affinity receptor for IgG with an apparent molecular weight of 50-80kDa. Two similar genes represent CD16, CD16A (Fcgamma;RIIIA), which exists as a hetero-oligomeric polypeptide-anchored form in macrophages and NK cells and CD16B (Fcgamma;RIIIB), which exist as a monomeric GPI-anchored form in neutrophils. Furthermore, there are two known polymorphisms of CD16B, NA-1 and NA-2. Individuals homozygous for NA-2 show a lower phagocytic capacity compared with NA-1. CD16 binds IgG in the form of immune complexes and shows preferential binding of IgG1 and IgG3 isotypes and minimal binding of IgG2 and IgG4. Upon IgG binding, both CD16 isoforms initiate signal transduction cascades that lead to a variety of responses including antibody-dependent cell-mediated cytotoxicity (ADCC), phagocytosis, degranulation and proliferation.
Description: A monoclonal antibody for detection of CD16 from Human. This CD16 antibody is for WB, IHC-P. It is affinity-purified from mouse ascites by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in mouse by using as an immunogen synthetic peptide
Description: A monoclonal antibody for detection of CD16 from Human. This CD16 antibody is for WB, IHC-P. It is affinity-purified from mouse ascites by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in mouse by using as an immunogen synthetic peptide
Description: A monoclonal antibody for detection of CD16 from Human. This CD16 antibody is for WB, IHC-P. It is affinity-purified from mouse ascites by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in mouse by using as an immunogen synthetic peptide
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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
