(Q33381182)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

atypical hemolytic uremic syndrome

14 January 2020

main subject

1 reference

inferred from title

author

Marie-Agnès Dragon-Durey

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Wolf Hervé Fridman

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Bert J C Janssen

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

9

Robert A Weiss

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

25

Timothy H J Goodship

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

4

Lisa Strain

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

21

Chantal Loirat

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

3

M Kathryn Liszewski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

26

John P Atkinson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

author name string

Veronique Frémeaux-Bacchi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Elizabeth C Miller

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Jacques Blouin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Alison L Brown

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Nadeem Moghal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Bernard S Kaplan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Karl Lhotta

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Gaurav Kapur

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Tej Mattoo

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Hubert Nivet

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

William Wong

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Sophie Gie

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Bruno Hurault de Ligny

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Michel Fischbach

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Ritu Gupta

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Richard Hauhart

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Vincent Meunier

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

language of work or name

English

0 references

publication date

16 September 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

number of pages

5

1 reference

inferred from page(s)

published in

Blood

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

volume

112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

issue

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

page(s)

4948-4952

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

Complement C3 variant and the risk of age-related macular degeneration

14 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Structure of C3b reveals conformational changes that underlie complement activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Atypical haemolytic uraemic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Structural insights into the central complement component C3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Clinical aspects and molecular basis of primary deficiencies of complement component C3 and its regulatory proteins factor I and factor H.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Structures of complement component C3 provide insights into the function and evolution of immunity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Familial haemolytic uraemic syndrome and an MCP mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Genetic studies into inherited and sporadic hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Autolytic fragmentation of complement components C3 and C4 under denaturing conditions, a property shared with α 2-macroglobulin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Genomic organization of human complement component C3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Molecular basis of hereditary C3 deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Influence of donor C3 allotype on late renal-transplantation outcome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Dissecting Sites Important for Complement Regulatory Activity in Membrane Cofactor Protein (MCP; CD46)

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597601

Homozygous deficiency of C3 in a patient with repeated infections

10 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18796626

12 December 2020

inferred from PubMed ID database lookup

Mutagenesis of the Arg-Gly-Asp triplet in human complement component C3 does not abolish binding of iC3b to the leukocyte integrin complement receptor type III (CR3, CD11b/CD18)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18796626

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1182/BLOOD-2008-01-133702

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18796626%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference