Genetics and complement in atypical HUS View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-06-06

AUTHORS

David Kavanagh, Tim Goodship

ABSTRACT

Central to the pathogenesis of atypical hemolytic uremic syndrome (aHUS) is over-activation of the alternative pathway of complement. Following the initial discovery of mutations in the complement regulatory protein, factor H, mutations have been described in factor I, membrane cofactor protein and thrombomodulin, which also result in decreased complement regulation. Autoantibodies to factor H have also been reported to impair complement regulation in aHUS. More recently, gain of function mutations in the complement components C3 and Factor B have been seen. This review focuses on the genetic causes of aHUS, their functional consequences, and clinical effect. More... »

PAGES

2431-2442

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00467-010-1555-5

DOI

http://dx.doi.org/10.1007/s00467-010-1555-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1016124974

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20526633


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1114", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Paediatrics and Reproductive Medicine", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Atypical Hemolytic Uremic Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Autoantibodies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Complement Activation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Complement System Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Predisposition to Disease", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hemolytic-Uremic Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Penetrance", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Risk Assessment", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Risk Factors", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Institute of Human Genetics, International Centre for Life, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK", 
          "id": "http://www.grid.ac/institutes/grid.419328.5", 
          "name": [
            "The Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK", 
            "Institute of Human Genetics, International Centre for Life, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kavanagh", 
        "givenName": "David", 
        "id": "sg:person.01104000003.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104000003.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "The Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK", 
          "id": "http://www.grid.ac/institutes/grid.1006.7", 
          "name": [
            "The Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Goodship", 
        "givenName": "Tim", 
        "id": "sg:person.016353144727.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016353144727.32"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/s00467-008-0964-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034552033", 
          "https://doi.org/10.1007/s00467-008-0964-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng912", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042586264", 
          "https://doi.org/10.1038/ng912"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2010-06-06", 
    "datePublishedReg": "2010-06-06", 
    "description": "Central to the pathogenesis of atypical hemolytic uremic syndrome (aHUS) is over-activation of the alternative pathway of complement. Following the initial discovery of mutations in the complement regulatory protein, factor H, mutations have been described in factor I, membrane cofactor protein and thrombomodulin, which also result in decreased complement regulation. Autoantibodies to factor H have also been reported to impair complement regulation in aHUS. More recently, gain of function mutations in the complement components C3 and Factor B have been seen. This review focuses on the genetic causes of aHUS, their functional consequences, and clinical effect.", 
    "genre": "article", 
    "id": "sg:pub.10.1007/s00467-010-1555-5", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1097267", 
        "issn": [
          "0931-041X", 
          "1432-198X"
        ], 
        "name": "Pediatric Nephrology", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "12", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "25"
      }
    ], 
    "keywords": [
      "atypical hemolytic uremic syndrome", 
      "membrane cofactor protein", 
      "complement regulation", 
      "regulatory proteins", 
      "complement regulatory proteins", 
      "cofactor protein", 
      "function mutations", 
      "functional consequences", 
      "factor H", 
      "genetic cause", 
      "hemolytic uremic syndrome", 
      "mutations", 
      "initial discovery", 
      "protein", 
      "factor B", 
      "alternative pathway", 
      "complement component C3", 
      "atypical HUS", 
      "clinical effects", 
      "regulation", 
      "uremic syndrome", 
      "factor I", 
      "component C3", 
      "genetics", 
      "pathway", 
      "complement", 
      "activation", 
      "discovery", 
      "autoantibodies", 
      "pathogenesis", 
      "syndrome", 
      "thrombomodulin", 
      "HUS", 
      "cause", 
      "review", 
      "C3", 
      "consequences", 
      "effect", 
      "gain"
    ], 
    "name": "Genetics and complement in atypical HUS", 
    "pagination": "2431-2442", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1016124974"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00467-010-1555-5"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "20526633"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00467-010-1555-5", 
      "https://app.dimensions.ai/details/publication/pub.1016124974"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-10-01T06:36", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20221001/entities/gbq_results/article/article_520.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1007/s00467-010-1555-5"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s00467-010-1555-5'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00467-010-1555-5'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00467-010-1555-5'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00467-010-1555-5'


 

This table displays all metadata directly associated to this object as RDF triples.

167 TRIPLES      21 PREDICATES      78 URIs      68 LITERALS      19 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00467-010-1555-5 schema:about N012089c9e5454f20a3d34f69ab4b88ff
2 N0cbcfd0f293d47caa652cf510894227e
3 N396ec8723cd54231a3f82abb485ad587
4 N3fb1cec89a8e4945ba45a3638a98a137
5 N6854068116a94eb584238c355f85b989
6 N7c2be3b79c09412897908cdbf8545dfb
7 N8de2eac6f9494cdba8d09a258172d539
8 N93252e4236bb44deb68a557f9a6ae69b
9 N961535870fde486e944a995e142d603d
10 Na382cc3f0aa94421a48ac508cbff1481
11 Nc9aed27e218d4e7288378a2d3319846e
12 Nefd291e07bff4ce7adc3976df794743b
13 anzsrc-for:11
14 anzsrc-for:1114
15 schema:author N45fe5d35f5b1474da9990212936e8df6
16 schema:citation sg:pub.10.1007/s00467-008-0964-1
17 sg:pub.10.1038/ng912
18 schema:datePublished 2010-06-06
19 schema:datePublishedReg 2010-06-06
20 schema:description Central to the pathogenesis of atypical hemolytic uremic syndrome (aHUS) is over-activation of the alternative pathway of complement. Following the initial discovery of mutations in the complement regulatory protein, factor H, mutations have been described in factor I, membrane cofactor protein and thrombomodulin, which also result in decreased complement regulation. Autoantibodies to factor H have also been reported to impair complement regulation in aHUS. More recently, gain of function mutations in the complement components C3 and Factor B have been seen. This review focuses on the genetic causes of aHUS, their functional consequences, and clinical effect.
21 schema:genre article
22 schema:isAccessibleForFree true
23 schema:isPartOf N2c540233aeb34f769c5145bb92312ab8
24 Nff69f38af1824c7bb6b7592170503240
25 sg:journal.1097267
26 schema:keywords C3
27 HUS
28 activation
29 alternative pathway
30 atypical HUS
31 atypical hemolytic uremic syndrome
32 autoantibodies
33 cause
34 clinical effects
35 cofactor protein
36 complement
37 complement component C3
38 complement regulation
39 complement regulatory proteins
40 component C3
41 consequences
42 discovery
43 effect
44 factor B
45 factor H
46 factor I
47 function mutations
48 functional consequences
49 gain
50 genetic cause
51 genetics
52 hemolytic uremic syndrome
53 initial discovery
54 membrane cofactor protein
55 mutations
56 pathogenesis
57 pathway
58 protein
59 regulation
60 regulatory proteins
61 review
62 syndrome
63 thrombomodulin
64 uremic syndrome
65 schema:name Genetics and complement in atypical HUS
66 schema:pagination 2431-2442
67 schema:productId Nafa92d7dcafe410b893871617ba53add
68 Nc98e60f2cf824ce09436cc025dd541ad
69 Nfcc8c25377ea4ac09aaf8833361cc679
70 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016124974
71 https://doi.org/10.1007/s00467-010-1555-5
72 schema:sdDatePublished 2022-10-01T06:36
73 schema:sdLicense https://scigraph.springernature.com/explorer/license/
74 schema:sdPublisher N4d47d775e0224594ba51480642c15212
75 schema:url https://doi.org/10.1007/s00467-010-1555-5
76 sgo:license sg:explorer/license/
77 sgo:sdDataset articles
78 rdf:type schema:ScholarlyArticle
79 N012089c9e5454f20a3d34f69ab4b88ff schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
80 schema:name Complement System Proteins
81 rdf:type schema:DefinedTerm
82 N0cbcfd0f293d47caa652cf510894227e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
83 schema:name Penetrance
84 rdf:type schema:DefinedTerm
85 N2c540233aeb34f769c5145bb92312ab8 schema:issueNumber 12
86 rdf:type schema:PublicationIssue
87 N396ec8723cd54231a3f82abb485ad587 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
88 schema:name Autoantibodies
89 rdf:type schema:DefinedTerm
90 N3fb1cec89a8e4945ba45a3638a98a137 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Risk Assessment
92 rdf:type schema:DefinedTerm
93 N45fe5d35f5b1474da9990212936e8df6 rdf:first sg:person.01104000003.11
94 rdf:rest N4ea6acb986944c46acb21e0aa9f7c49e
95 N4d47d775e0224594ba51480642c15212 schema:name Springer Nature - SN SciGraph project
96 rdf:type schema:Organization
97 N4ea6acb986944c46acb21e0aa9f7c49e rdf:first sg:person.016353144727.32
98 rdf:rest rdf:nil
99 N6854068116a94eb584238c355f85b989 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Risk Factors
101 rdf:type schema:DefinedTerm
102 N7c2be3b79c09412897908cdbf8545dfb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Phenotype
104 rdf:type schema:DefinedTerm
105 N8de2eac6f9494cdba8d09a258172d539 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Humans
107 rdf:type schema:DefinedTerm
108 N93252e4236bb44deb68a557f9a6ae69b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Mutation
110 rdf:type schema:DefinedTerm
111 N961535870fde486e944a995e142d603d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
112 schema:name Hemolytic-Uremic Syndrome
113 rdf:type schema:DefinedTerm
114 Na382cc3f0aa94421a48ac508cbff1481 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name Complement Activation
116 rdf:type schema:DefinedTerm
117 Nafa92d7dcafe410b893871617ba53add schema:name pubmed_id
118 schema:value 20526633
119 rdf:type schema:PropertyValue
120 Nc98e60f2cf824ce09436cc025dd541ad schema:name dimensions_id
121 schema:value pub.1016124974
122 rdf:type schema:PropertyValue
123 Nc9aed27e218d4e7288378a2d3319846e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Genetic Predisposition to Disease
125 rdf:type schema:DefinedTerm
126 Nefd291e07bff4ce7adc3976df794743b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name Atypical Hemolytic Uremic Syndrome
128 rdf:type schema:DefinedTerm
129 Nfcc8c25377ea4ac09aaf8833361cc679 schema:name doi
130 schema:value 10.1007/s00467-010-1555-5
131 rdf:type schema:PropertyValue
132 Nff69f38af1824c7bb6b7592170503240 schema:volumeNumber 25
133 rdf:type schema:PublicationVolume
134 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
135 schema:name Medical and Health Sciences
136 rdf:type schema:DefinedTerm
137 anzsrc-for:1114 schema:inDefinedTermSet anzsrc-for:
138 schema:name Paediatrics and Reproductive Medicine
139 rdf:type schema:DefinedTerm
140 sg:journal.1097267 schema:issn 0931-041X
141 1432-198X
142 schema:name Pediatric Nephrology
143 schema:publisher Springer Nature
144 rdf:type schema:Periodical
145 sg:person.01104000003.11 schema:affiliation grid-institutes:grid.419328.5
146 schema:familyName Kavanagh
147 schema:givenName David
148 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104000003.11
149 rdf:type schema:Person
150 sg:person.016353144727.32 schema:affiliation grid-institutes:grid.1006.7
151 schema:familyName Goodship
152 schema:givenName Tim
153 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016353144727.32
154 rdf:type schema:Person
155 sg:pub.10.1007/s00467-008-0964-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034552033
156 https://doi.org/10.1007/s00467-008-0964-1
157 rdf:type schema:CreativeWork
158 sg:pub.10.1038/ng912 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042586264
159 https://doi.org/10.1038/ng912
160 rdf:type schema:CreativeWork
161 grid-institutes:grid.1006.7 schema:alternateName The Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
162 schema:name The Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
163 rdf:type schema:Organization
164 grid-institutes:grid.419328.5 schema:alternateName Institute of Human Genetics, International Centre for Life, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK
165 schema:name Institute of Human Genetics, International Centre for Life, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK
166 The Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
167 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...