(Q36281655)

13 August 2017

Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion (English)

1 reference

complement factor I deficiency

13 August 2017

1 reference

María Alba-Domínguez

1

1 reference

13 August 2017

Alberto López-Lera

2

1 reference

13 August 2017

Sofía Garrido

3

1 reference

13 August 2017

Pilar Nozal

4

1 reference

13 August 2017

Ignacio González-Granado

5

1 reference

13 August 2017

Josefa Melero

6

1 reference

13 August 2017

Pere Soler-Palacín

7

1 reference

13 August 2017

Carmen Cámara

8

1 reference

13 August 2017

Margarita López-Trascasa

9

1 reference

13 August 2017

18 June 2012

1 reference

Orphanet Journal of Rare Diseases

13 August 2017

1 reference

13 August 2017

7

1 reference

13 August 2017

42

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-7-42

13 August 2017

0 references

cites work

Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Atypical hemolytic uremic syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Structural basis for complement factor I control and its disease-associated sequence polymorphisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Disease-causing mutations in genes of the complement system

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Complement factor I in health and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Advances in understanding the aetiology of atypical Haemolytic Uraemic Syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Primary immunodeficiencies: 2009 update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Complement regulators and inhibitory proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Complement in human diseases: Lessons from complement deficiencies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Hereditary and acquired complement dysregulation in membranoproliferative glomerulonephritis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Genetic, molecular and functional analyses of complement factor I deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

The tick-over theory revisited: formation and regulation of the soluble alternative complement C3 convertase (C3(H2O)Bb)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Complement factor I deficiency associated with recurrent meningitis coinciding with menstruation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

The molecular basis of hereditary complement factor I deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

The role of complement in the induction of antibody responses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458969

Human complement factor I glycosylation: structural and functional characterisation of the N-linked oligosaccharides.

29 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-42

Molecular characterization of homozygous hereditary factor I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-42

Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-42

Complement Mutation-AssociatedDe NovoThrombotic Microangiopathy Following Kidney Transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-42

Molecular characterization of Complement Factor I deficiency in two Spanish families

21 January 2018

1 reference

12 December 2020

Purification of C3b inactivator and demonstration of its two polypeptide chain structure

1 reference

12 December 2020

A new screening test for C3 nephritis factor based on a stable cell bound convertase on sheep erythrocytes

1 reference

12 December 2020

Biosynthesis and postsynthetic processing of human C3b/C4b inactivator (factor I) in three hepatoma cell lines

1 reference

12 December 2020

Mapping of the human complement factor I gene to 4q25

1 reference

12 December 2020

Complement factor I deficiency with recurrent aseptic meningitis

1 reference

12 December 2020

Partial lipodystrophy, mesangiocapillary glomerulonephritis, and complement dysregulation. An autoimmune phenomenon

1 reference

12 December 2020

Glomerulonephritis in a patient with complement factor I deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-42

1 reference

Dimensions Publication ID

13 August 2017

0 references

1 reference

13 August 2017

1 reference