A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure (Q33385329)

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English	A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

atypical hemolytic uremic syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Andreas Janecke

2

object named as

Andreas R Janecke

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Véronique Frémeaux-Bacchi

10

object named as

Veronique Fremeaux-Bacchi

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

object named as

Gert Mayer

9

0 references

author name string

Karl Lhotta

1

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Johanna Scheiring

3

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Barbara Petzlberger

4

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Thomas Giner

5

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Verena Fally

6

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Reinhard Würzner

7

1 reference

Europe PubMed Central

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26 July 2017

Lothar B Zimmerhackl

8

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

publication date

9 July 2009

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Clinical Journal of the American Society of Nephrology

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Europe PubMed Central

PubMed publication ID

26 July 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

1356-1362

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Complement regulatory genes and hemolytic uremic syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Renal transplantation in HUS patients with disorders of complement regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Membrane cofactor protein and factor I: mutations and transplantation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Terminal complement complex (C5b-9) in children with recurrent hemolytic uremic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Mutations in CD46, a complement regulatory protein, predispose to atypical HUS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Familial haemolytic uraemic syndrome and an MCP mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Genetic studies into inherited and sporadic hemolytic uremic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Biosynthesis and genetics of C3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

21 June 2018

Eculizumab for congenital atypical hemolytic-uremic syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

31 October 2018

Terminal complement complexes in childhood type I membranoproliferative glomerulonephritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

31 October 2018

Eculizumab for Atypical Hemolytic–Uremic Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2723975

31 October 2018

Terminal complement complex in plasma from patients with systemic lupus erythematosus and other glomerular diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19590060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inhibition of Terminal Complement Complex Formation and Cell Lysis by Monoclonal Antibodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/19590060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Terminal complement complexes in acute poststreptococcal glomerulonephritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19590060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SC5b-9 is the most sensitive marker in assessing disease activity in Brazilian SLE patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/19590060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2215/CJN.06281208

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

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