Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN. (Q34427591)

2 August 2017

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN. (English)

1 reference

2 August 2017

Kevin J Marchbank

16

0 references

David Kavanagh

object named as

David Kavanagh

19

0 references

Mauro Santibanez-Korev

14

object named as

Mauro Santibanez-Koref

1 reference

2 August 2017

18

Timothy H J Goodship

1 reference

2 August 2017

3

Andrew P Herbert

1 reference

2 August 2017

12

Anna Richards

1 reference

2 August 2017

2

Holly E Anderson

1 reference

2 August 2017

4

Rachel C Challis

1 reference

2 August 2017

8

Lisa Strain

1 reference

2 August 2017

15

Paul N Barlow

1 reference

2 August 2017

1

Edwin K S Wong

1 reference

2 August 2017

Paul Brown

5

1 reference

2 August 2017

Geisilaine S Reis

6

1 reference

2 August 2017

James O Tellez

7

1 reference

2 August 2017

Nicholas Fluck

9

1 reference

2 August 2017

Ann Humphrey

10

1 reference

2 August 2017

Alison Macleod

11

1 reference

2 August 2017

Daniel Ahlert

13

1 reference

2 August 2017

Claire L Harris

17

1 reference

2 August 2017

10 April 2014

1 reference

Journal of the American Society of Nephrology

2 August 2017

1 reference

2 August 2017

25

1 reference

2 August 2017

11

1 reference

2 August 2017

2425-2433

1 reference

C3 glomerulopathy: consensus report

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Toward a working definition of C3 glomerulopathy by immunofluorescence

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Pathogenesis of the C3 glomerulopathies and reclassification of MPGN.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

The complotype: dictating risk for inflammation and infection

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

A hybrid CFHR3-1 gene causes familial C3 glomerulopathy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Membranoproliferative glomerulonephritis--a new look at an old entity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Structural and functional characterization of the product of disease-related factor H gene conversion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Allelic variants of complement genes associated with dense deposit disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Disease-associated N-terminal complement factor H mutations perturb cofactor and decay-accelerating activities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

C3 glomerulopathy: a new classification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Does complement factor B have a role in the pathogenesis of atypical HUS?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Complement-mediated adipocyte lysis by nephritic factor sera

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Serum C'3 lytic system in patients with glomerulonephritis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Familial incidence of C3 nephritic factor, partial lipodystrophy and membranoproliferative glomerulonephritis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Spontaneous glomerular sclerosis in aging Sprague-Dawley rats. I. Lesions associated with mesangial IgM deposits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

The immunogloblin nature of nephritic factor (NeF)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Basement membrane-changes in membranoproliferative glomerulonephritis: a light and electron microscopic study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

C3 inactivating factor in the serum of a patient with chronic hypocomplementaemic proliferative glomerulo-nephritis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214516

C3 nephritic factor (C3NeF): stabilization of fluid phase and cell-bound alternative pathway convertase

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24722444

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

On the origin of C3 nephritic factor (antibody to the alternative pathway C3 convertase): evidence for the Adam and Eve concept of autoantibody production

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24722444

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular analysis of C3 allotypes in patients with nephritic factor

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24722444

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1681/ASN.2013070732

1 reference

2 August 2017

1 reference

2 August 2017

1 reference