Nicole C. Meyer
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View article: Complement factor I functional assay for assessing CFI variants
Complement factor I functional assay for assessing CFI variants Open
View article: Factor H-related 1 and heparan sulfate architecture contribute to complement dysregulation in C3 glomerulopathy
Factor H-related 1 and heparan sulfate architecture contribute to complement dysregulation in C3 glomerulopathy Open
Introduction Dysregulation of the alternative pathway of complement underlies the pathogenesis of C3 glomerulopathy (C3G). Because Factor H (FH) prevents excessive alternative pathway activity while Factor H-related protein 1 (FHR-1) is be…
View article: Defining Nephritic Factors as Diverse Drivers of Systemic Complement Dysregulation in C3 Glomerulopathy
Defining Nephritic Factors as Diverse Drivers of Systemic Complement Dysregulation in C3 Glomerulopathy Open
This study implicates complement autoantibodies as robust drivers of systemic complement dysregulation in approximately 50% of C3G but also highlights the need for continued discovery-based research to identify novel drivers of disease.
View article: Modeling C3 glomerulopathies: C3 convertase regulation on an extracellular matrix surface
Modeling C3 glomerulopathies: C3 convertase regulation on an extracellular matrix surface Open
Introduction C3 glomerulopathies (C3G) are ultra-rare complement-mediated diseases that lead to end-stage renal disease (ESRD) within 10 years of diagnosis in ~50% of patients. Overactivation of the alternative pathway (AP) of complement i…
View article: Complement Factor I Variants in Complement-Mediated Renal Diseases
Complement Factor I Variants in Complement-Mediated Renal Diseases Open
C3 glomerulopathy (C3G) and atypical hemolytic uremic syndrome (aHUS) are two rare diseases caused by dysregulated activity of the alternative pathway of complement secondary to the presence of genetic and/or acquired factors. Complement f…
View article: Factor H Autoantibodies and Complement-Mediated Diseases
Factor H Autoantibodies and Complement-Mediated Diseases Open
Factor H (FH), a member of the regulators-of-complement-activation (RCA) family of proteins, circulates in human plasma at concentrations of 180–420 mg/L where it controls the alternative pathway (AP) of complement in the fluid phase and o…
View article: Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome Open
Background Genetic variation in complement genes is a predisposing factor for atypical hemolytic uremic syndrome (aHUS), a life-threatening thrombotic microangiopathy, however interpreting the effects of genetic variants is challenging and…
View article: Genetic Abnormalities in Complement Regulating Proteins in C3 Glomerulopathy
Genetic Abnormalities in Complement Regulating Proteins in C3 Glomerulopathy Open
C3 glomerulopathy (C3G) is a rare disease entity characterized by accumulation of complement factors in the glomeruli due to overactivation of the alternative pathway of complement due to acquired or genetic abnormalities of the complement…
View article: C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab
C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab Open
This is the first report of early recurrence of C3GN in an allograft in a patient with known mutations in complement regulatory genes and no preexisting para-proteinemia. Complement activation resulting from ischemia-reperfusion injury fro…
View article: C4 Nephritic Factors in C3 Glomerulopathy: A Case Series
C4 Nephritic Factors in C3 Glomerulopathy: A Case Series Open
The finding of C4NeFs in a small percentage of patients with C3G highlights the challenge in identifying autoantibodies that drive complement dysregulation and underscores the complexity of the autoantibody repertoire that can be identifie…
View article: Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene
Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene Open
C3 glomerulopathy (C3G) is an ultra-rare complement-mediated renal disease characterized histologically by the predominance of C3 deposition within in the glomerulus. Familial cases of C3G are extremely uncommon and offer unique insight in…
View article: Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran Open
Background Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, wi…
View article: <i>PDZD7</i> and hearing loss: More than just a modifier
<i>PDZD7</i> and hearing loss: More than just a modifier Open
Deafness is the most frequent sensory disorder. With over 90 genes and 110 loci causally implicated in non‐syndromic hearing loss, it is phenotypically and genetically heterogeneous. Here, we investigate the genetic etiology of deafness in…
View article: High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies
High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies Open
The thrombotic microangiopathies (TMAs) and C3 glomerulopathies (C3Gs) include a spectrum of rare diseases such as atypical hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, C3GN, and dense deposit disease, which share phenot…
View article: Soluble C5b-9 as a Biomarker for Complement Activation in Atypical Hemolytic Uremic Syndrome
Soluble C5b-9 as a Biomarker for Complement Activation in Atypical Hemolytic Uremic Syndrome Open