Renee X. Goodfellow
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View article: Comprehensive functional analyses of 110 complement factor B variants provide novel diagnostic and structural insights
Comprehensive functional analyses of 110 complement factor B variants provide novel diagnostic and structural insights Open
View article: Assessing C3 nephritic factor function using Luminex-based formation and stabilization assays
Assessing C3 nephritic factor function using Luminex-based formation and stabilization assays Open
View article: Complement factor I functional assay for assessing CFI variants
Complement factor I functional assay for assessing CFI variants Open
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
View article: Renin and renin blockade have no role in complement activity
Renin and renin blockade have no role in complement activity Open
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: POS-017 A POPULATION PERSPECTIVE OF NEPHRITIC FACTORS AS SYSTEMIC DRIVERS OF COMPLEMENT DYSREGULATION IN C3 GLOMERULOPATHY
POS-017 A POPULATION PERSPECTIVE OF NEPHRITIC FACTORS AS SYSTEMIC DRIVERS OF COMPLEMENT DYSREGULATION IN C3 GLOMERULOPATHY Open
IntroductionC3 Glomerulopathy (C3G) is an ultra-rare renal disease mediated by dysregulation of the alternative pathway (AP) of the complement system. Rare and novel genetic variation in complement genes and autoantibodies to complement pr…
View article: POS-024 COMPLEMENT FACTOR I VARIANTS IN ATYPICAL HEMOLYTIC UREMIC SYNDROME AND C3 GLOMERULOPATHY
POS-024 COMPLEMENT FACTOR I VARIANTS IN ATYPICAL HEMOLYTIC UREMIC SYNDROME AND C3 GLOMERULOPATHY Open
IntroductionAtypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are two rare diseases caused by dysregulated activity of the alternative pathway of complement secondary to the presence of genetic and/or acquired factors. …
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: Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification Open
Atypical hemolytic uremic syndrome (aHUS) is a life-threatening thrombotic microangiopathy that can progress, when untreated, to end-stage renal disease. Most frequently, aHUS is caused by complement dysregulation due to pathogenic variant…
View article: The transcriptional regulator GON4L is required for viability and hematopoiesis in mice
The transcriptional regulator GON4L is required for viability and hematopoiesis in mice Open
View article: Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome
Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome Open
View article: Early B Cell Progenitors Deficient for GON4L Fail To Differentiate Due to a Block in Mitotic Cell Division
Early B Cell Progenitors Deficient for GON4L Fail To Differentiate Due to a Block in Mitotic Cell Division Open
B cell development in Justy mutant mice is blocked due to a precursor mRNA splicing defect that depletes the protein GON4-like (GON4L) in B cell progenitors. Genetic and biochemical studies have suggested that GON4L is a transcriptional re…
View article: NEDD4 ubiquitin ligase is a putative oncogene in endometrial cancer that activates IGF-1R/PI3K/Akt signaling
NEDD4 ubiquitin ligase is a putative oncogene in endometrial cancer that activates IGF-1R/PI3K/Akt signaling Open
View article: Genetic Deficiency of Mtdh Gene in Mice Causes Male Infertility via Impaired Spermatogenesis and Alterations in the Expression of Small Non-coding RNAs
Genetic Deficiency of Mtdh Gene in Mice Causes Male Infertility via Impaired Spermatogenesis and Alterations in the Expression of Small Non-coding RNAs Open
Increased expression of metadherin (MTDH, also known as AEG-1 and 3D3/LYRIC) has been associated with drug resistance, metastasis, and angiogenesis in a variety of cancers. However, the specific mechanisms through which MTDH is involved in…