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p(HGNC:CD59, var("p.Cys89Tyr"))

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Entity

Name
CD59
Namespace
hgnc
Namespace Version
20180906
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/b46b65c3da259b6e86026514dfececab7c22a11b/external/hgnc-names.belns

Appears in Networks 1

Heme Curation v0.0.1-dev

Mechanistic knowledge surrounding heme

In-Edges 10

a(MESH:"Complement Membrane Attack Complex") positiveCorrelation p(HGNC:CD59, var("p.Cys89Tyr")) View Subject | View Object

As shown in Fig. 1, significantly increased MAC deposition is seen on RBCs (p < 0.0003), neutrophils (p < 0.009), and platelets (p < 0.0003), but not on monocytes (p=0.5, not shown). PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

act(a(MESH:"Complement Membrane Attack Complex")) positiveCorrelation p(HGNC:CD59, var("p.Cys89Tyr")) View Subject | View Object

However, in primary Cys89Tyr CD59 deficiency and not in PNH, the endothelial cells are exposed to MACmediated injury. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
platelet
MeSH
Endothelium
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Discussion

bp(HM:"Monocyte-platelet aggregation") positiveCorrelation p(HGNC:CD59, var("p.Cys89Tyr")) View Subject | View Object

Although aggregation has not been investigated in PNH, we clearly show here that in primary Cys89Tyr CD59 mutation there is a significant increase in coaggregation with high numbers of activated platelets adhering to a single monocyte, and granulocytes to monocytes, that may lead to nonendothelial-bound arterial occlusion, among other effects [36]. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Endothelium
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Discussion

p(HGNC:CD59) hasVariant p(HGNC:CD59, var("p.Cys89Tyr")) View Subject | View Object

Appears in Networks:

path(MESH:"Guillain-Barre Syndrome") positiveCorrelation p(HGNC:CD59, var("p.Cys89Tyr")) View Subject | View Object

The Cys89Tyr mutation in CD59 was initially described with manifestation in infancy by chronic hemolysis and relapsing peripheral demyelinating disease resembling recurrent Guillain- Barre syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP). PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

path(MESH:"Polyradiculoneuropathy, Chronic Inflammatory Demyelinating") positiveCorrelation p(HGNC:CD59, var("p.Cys89Tyr")) View Subject | View Object

The Cys89Tyr mutation in CD59 was initially described with manifestation in infancy by chronic hemolysis and relapsing peripheral demyelinating disease resembling recurrent Guillain- Barre syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP). PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

path(MESH:Hemolysis) positiveCorrelation p(HGNC:CD59, var("p.Cys89Tyr")) View Subject | View Object

The Cys89Tyr mutation in CD59 was initially described with manifestation in infancy by chronic hemolysis and relapsing peripheral demyelinating disease resembling recurrent Guillain- Barre syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP). PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

path(MESH:Stroke) positiveCorrelation p(HGNC:CD59, var("p.Cys89Tyr")) View Subject | View Object

More recently, we have described two infants carrying the mutation who manifested with recurrent strokes [8], establishing the concept that primary Cys89Tyr mutation in CD59 leads to a thrombophilic state. PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

path(MESH:Thrombosis) positiveCorrelation p(HGNC:CD59, var("p.Cys89Tyr")) View Subject | View Object

More recently, we have described two infants carrying the mutation who manifested with recurrent strokes [8], establishing the concept that primary Cys89Tyr mutation in CD59 leads to a thrombophilic state. PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

path(MESH:Thrombosis) positiveCorrelation p(HGNC:CD59, var("p.Cys89Tyr")) View Subject | View Object

In summary, thrombosis is an extremely important prognostic factor both in PNH and in primary Cys89Tyr nonfunctioning CD59. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Coronary Vessels
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Discussion

Out-Edges 19

p(HGNC:CD59, var("p.Cys89Tyr")) increases path(MESH:Stroke) View Subject | View Object

Nonfunctioning CD59 is a major risk factor for stroke and hypercoagulability. PubMed:29929138

Appears in Networks:
Annotations
Text Location
Abstract

p(HGNC:CD59, var("p.Cys89Tyr")) positiveCorrelation path(MESH:Stroke) View Subject | View Object

More recently, we have described two infants carrying the mutation who manifested with recurrent strokes [8], establishing the concept that primary Cys89Tyr mutation in CD59 leads to a thrombophilic state. PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

p(HGNC:CD59, var("p.Cys89Tyr")) increases path(MESH:Stroke) View Subject | View Object

We recently encountered patients with recurrent strokes leading to premature death in 2/7 young children with primary Cys89Tyr CD59 deficiency [8]. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Coronary Vessels
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Discussion

p(HGNC:CD59, var("p.Cys89Tyr")) increases path(HP:Hypercoagulability) View Subject | View Object

Nonfunctioning CD59 is a major risk factor for stroke and hypercoagulability. PubMed:29929138

Appears in Networks:
Annotations
Text Location
Abstract

p(HGNC:CD59, var("p.Cys89Tyr")) positiveCorrelation path(MESH:Hemolysis) View Subject | View Object

The Cys89Tyr mutation in CD59 was initially described with manifestation in infancy by chronic hemolysis and relapsing peripheral demyelinating disease resembling recurrent Guillain- Barre syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP). PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

p(HGNC:CD59, var("p.Cys89Tyr")) positiveCorrelation path(MESH:"Guillain-Barre Syndrome") View Subject | View Object

The Cys89Tyr mutation in CD59 was initially described with manifestation in infancy by chronic hemolysis and relapsing peripheral demyelinating disease resembling recurrent Guillain- Barre syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP). PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

p(HGNC:CD59, var("p.Cys89Tyr")) positiveCorrelation path(MESH:"Polyradiculoneuropathy, Chronic Inflammatory Demyelinating") View Subject | View Object

The Cys89Tyr mutation in CD59 was initially described with manifestation in infancy by chronic hemolysis and relapsing peripheral demyelinating disease resembling recurrent Guillain- Barre syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP). PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

p(HGNC:CD59, var("p.Cys89Tyr")) positiveCorrelation path(MESH:Thrombosis) View Subject | View Object

More recently, we have described two infants carrying the mutation who manifested with recurrent strokes [8], establishing the concept that primary Cys89Tyr mutation in CD59 leads to a thrombophilic state. PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

p(HGNC:CD59, var("p.Cys89Tyr")) positiveCorrelation path(MESH:Thrombosis) View Subject | View Object

In summary, thrombosis is an extremely important prognostic factor both in PNH and in primary Cys89Tyr nonfunctioning CD59. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Coronary Vessels
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Discussion

p(HGNC:CD59, var("p.Cys89Tyr")) positiveCorrelation a(MESH:"Complement Membrane Attack Complex") View Subject | View Object

As shown in Fig. 1, significantly increased MAC deposition is seen on RBCs (p < 0.0003), neutrophils (p < 0.009), and platelets (p < 0.0003), but not on monocytes (p=0.5, not shown). PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

p(HGNC:CD59, var("p.Cys89Tyr")) causesNoChange a(MESH:"Complement Membrane Attack Complex") View Subject | View Object

As shown in Fig. 1, significantly increased MAC deposition is seen on RBCs (p < 0.0003), neutrophils (p < 0.009), and platelets (p < 0.0003), but not on monocytes (p=0.5, not shown). PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
monocyte
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

p(HGNC:CD59, var("p.Cys89Tyr")) positiveCorrelation act(a(MESH:"Complement Membrane Attack Complex")) View Subject | View Object

However, in primary Cys89Tyr CD59 deficiency and not in PNH, the endothelial cells are exposed to MACmediated injury. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
platelet
MeSH
Endothelium
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Discussion

p(HGNC:CD59, var("p.Cys89Tyr")) increases a(MESH:"Cell-Derived Microparticles") View Subject | View Object

We have assessed the presence of MPs in four patients with primary Cys89Tyr mutation in CD59 and two PNH patients, as well as in four healthy donors. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

p(HGNC:CD59, var("p.Cys89Tyr")) increases a(MESH:"Cell-Derived Microparticles") View Subject | View Object

In summary, patients with primary Cys89Tyr mutation in CD59 showed about 9–10-fold increase in the number of MPs compared to controls and slightly but significantly increased numbers when com pared to PNH patients. The origin of MPs was primarily RBCs and to a much lesser extent platelets and neutrophils. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

p(HGNC:CD59, var("p.Cys89Tyr")) increases bp(GO:"platelet activation") View Subject | View Object

The average mean fluorescence (MF) for CD61 staining of was slightly reduced in patients with primary Cys89Tyr CD59 deficiency and PNH as compared to controls. However, the average MF for CD62P expression in the healthy individuals was 38.3 ± 3.1 compared to 48.5 ± 4.7 in patients with primary Cys89Tyr CD59 deficiency (p < 0.0085) and 54.0 ± 4.2 in patients with PNH (p < 0.0013), indicating a significantly more activated platelet phenotype in both the patients with PNH and those with primary Cys89Tyr CD59 deficiency. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

p(HGNC:CD59, var("p.Cys89Tyr")) increases bp(GO:"platelet activation") View Subject | View Object

It is thus plausible to suggest that the increased monocyte-platelet interaction in patients with primary Cys89Tyr mutation in CD59 is related to an activated platelet phenotype. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

p(HGNC:CD59, var("p.Cys89Tyr")) increases p(HGNC:SELP) View Subject | View Object

Interaction between monocytes and platelets was suggested to be via p selection [17], which was shown here to be much higher in patients with primary Cys89Tyr mutation in CD59. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

p(HGNC:CD59, var("p.Cys89Tyr")) increases p(HGNC:HBB) View Subject | View Object

High free hemoglobin was shown in patients with primary Cys89Tyr mutation in CD59 (Table 1) and it has been suggested in several ways that free hemoglobin may serve as a major mechanism for thrombophilia. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

p(HGNC:CD59, var("p.Cys89Tyr")) positiveCorrelation bp(HM:"Monocyte-platelet aggregation") View Subject | View Object

Although aggregation has not been investigated in PNH, we clearly show here that in primary Cys89Tyr CD59 mutation there is a significant increase in coaggregation with high numbers of activated platelets adhering to a single monocyte, and granulocytes to monocytes, that may lead to nonendothelial-bound arterial occlusion, among other effects [36]. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Endothelium
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Discussion

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If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.