Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding (Q33401619)

26 July 2017

Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding (English)

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26 July 2017

Elena Volokhina

1

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author name string

Dineke Westra

2

1 reference

26 July 2017

Xiaoguang Xue

3

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26 July 2017

Piet Gros

4

1 reference

26 July 2017

Nicole van de Kar

5

1 reference

26 July 2017

Lambert van den Heuvel

6

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26 July 2017

6 June 2012

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26 July 2017

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26 July 2017

27

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26 July 2017

9

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26 July 2017

1519-1524

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https://scigraph.springernature.com/pub.10.1007/s00467-012-2183-z

26 July 2017

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cites work

A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome

1 reference

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A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function

21 June 2018

1 reference

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A method and server for predicting damaging missense mutations

21 June 2018

1 reference

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Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS)

21 June 2018

1 reference

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Atypical hemolytic-uremic syndrome

21 June 2018

1 reference

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Thrombomodulin mutations in atypical hemolytic-uremic syndrome

21 June 2018

1 reference

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 June 2018

1 reference

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Structure of complement fragment C3b-factor H and implications for host protection by complement regulators

21 June 2018

1 reference

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

21 June 2018

1 reference

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Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency

21 June 2018

1 reference

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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=3407361

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and 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=3407361

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407361

NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

21 June 2018

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Drug-induced thrombotic thrombocytopenic purpura/hemolytic uremic syndrome: a concise review

21 June 2018

1 reference

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

21 June 2018

1 reference

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Non-enteropathic hemolytic uremic syndrome: causes and short-term course.

21 June 2018

1 reference

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Familial haemolytic uraemic syndrome and an MCP mutation

21 June 2018

1 reference

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Hemolytic-uremic syndrome: bilateral necrosis of the renal cortex in acute acquired hemolytic anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407361

The association of pregnancy with thrombotic thrombocytopenic purpura-hemolytic uremic syndrome

21 June 2018

1 reference

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Complement. First of two parts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407361

A simple salting out procedure for extracting DNA from human nucleated cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407361

Functional expression of furin demonstrating its intracellular localization and endoprotease activity for processing of proalbumin and complement pro-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=3407361

Hemolytic Uremic Syndrome

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-012-2183-Z

Atypical hemolytic uremic syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22669319

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00467-012-2183-Z

1 reference

Dimensions Publication ID

26 July 2017

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26 July 2017

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