(Q33345226)

26 July 2017

title

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome (English)

1 reference

atypical hemolytic uremic syndrome

26 July 2017

main subject

1 reference

litr

author

Margarita López-Trascasa

object named as

Margarita López-Trascasa

Santiago Rodriguez de Córdoba

6

0 references

object named as

Santiago Rodríguez de Córdoba

7

0 references

Pilar Sánchez-Corral

1

object named as

Pilar Sánchez-Corral

1 reference

26 July 2017

author name string

David Pérez-Caballero

2

1 reference

26 July 2017

Olatz Huarte

3

1 reference

26 July 2017

Ari M Simckes

4

1 reference

26 July 2017

Elena Goicoechea

5

1 reference

26 July 2017

language of work or name

English

0 references

publication date

6 November 2002

1 reference

American Journal of Human Genetics

26 July 2017

published in

1 reference

26 July 2017

volume

71

1 reference

26 July 2017

issue

6

1 reference

26 July 2017

page(s)

1285-1295

1 reference

von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome

26 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

Combined kidney and liver transplantation for familial 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=378565

Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic syndrome and a predicted heparin binding site

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

Hemolytic uremic syndrome: how do factor H mutants mediate endothelial damage?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

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=378565

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=378565

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=378565

Human complement factor H deficiency associated with 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=378565

Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased 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=378565

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=378565

A novel sialic acid binding site on factor H mediates serum resistance of sialylated Neisseria gonorrhoeae

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

Identification of three physically and functionally distinct binding sites for C3b in human complement factor H by deletion mutagenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

Familial hemolytic-uremic syndrome and homozygous factor H 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=378565

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

The complete amino acid sequence of human complement 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=378565

CpG mutations in the reactive site of human C1 inhibitor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

Discrimination between activators and nonactivators of the alternative pathway of complement: regulation via a sialic acid/polyanion binding site on 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=378565

Control of the amplification convertase of complement by the plasma protein beta1H

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

The role of C4-binding protein and {beta }1H in proteolysis of C4b and C3b

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

Human complement C3b inactivator: isolation, characterization, and demonstration of an absolute requirement for the serum protein beta1H for cleavage of C3b and C4b in solution

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement 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=378565

Molecular basis for factor H and FHL-1 deficiency in an Italian family

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

Molecular mechanisms of target recognition in an innate immune system: interactions among factor H, C3b, and target in the alternative pathway of human complement

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

The hemolytic uremic syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378565

Localization of the heparin-binding site on complement factor H

31 October 2018

1 reference

12 December 2020

Identification of a heparin binding domain in the seventh short consensus repeat of complement factor H

1 reference

12 December 2020

Identification of the second heparin-binding domain in human complement factor H

1 reference

12 December 2020

Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome

1 reference

12 December 2020

C1 inactivator protein complexed with albumin in plasma from a patient with angioneurotic edema

1 reference

12 December 2020

Hypocomplementaemia due to a genetic deficiency of beta 1H globulin

1 reference

12 December 2020

Genetic polymorphism of human factor H (beta 1H)

1 reference

12 December 2020

Separation of active and inactive forms of the third component of human complement, C3, by fast protein liquid chromatography (FPLC)

1 reference

12 December 2020

Identifiers

DOI

10.1086/344515

1 reference

26 July 2017

1 reference

26 July 2017

1 reference