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https://www.readbyqxmd.com/read/27647805/a-novel-multiplexed-targeted-mass-spectrometry-assay-for-quantification-of-complement-factor-h-cfh-variants-and-cfh-related-proteins-1-5-in-human-plasma
#1
Pingbo Zhang, Min Zhu, Minghui Geng-Spyropoulos, Michelle Shardell, Marta Gonzalez-Freire, Vilmundur Gudnason, Gudny Eiriksdottir, Debra Schaumberg, Jennifer E Van Eyk, Luigi Ferrucci, Richard D Semba
Age-related macular degeneration (AMD) is a leading cause of visual loss among older adults. Two variants in the complement factor H (CFH) gene, Y402H and I62V, are strongly associated with risk of AMD. CFH is encoded in Regulator of Complement Activation gene cluster in chromosome 1q32, which includes complement factor-related (CFHR) proteins, CFHR1 to CFHR5, with high amino acid sequence homology to CFH. Our goal was to build a selected reaction monitoring (SRM) assay to measure plasma concentrations of CFH variants Y402, H402, I62, and V62, and CFHR1-5...
September 20, 2016: Proteomics
https://www.readbyqxmd.com/read/27490940/familial-c3-glomerulonephritis-caused-by-a-novel-cfhr5-cfhr2-fusion-gene
#2
Xue Xiao, Cybele Ghossein, Agustín Tortajada, Yuzhou Zhang, Nicole Meyer, Michael Jones, Nicolo Ghiringhelli Borsa, Carla M Nester, Christie P Thomas, Santiago Rodríquez de Córdoba, Richard J H Smith
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 into the genetic drivers of complement dysregulation. In this report, we describe a patient who presented with C3G. Because a relative carried the same diagnosis, we sought an underlying genetic commonality to explain the phenotype. As part of a comprehension genetic screen, we completed multiplex ligation-dependent probe amplification across the complement factor H related region and identified amplification alterations consistent with a genomic rearrangement...
September 2016: Molecular Immunology
https://www.readbyqxmd.com/read/27188840/challenges-in-rare-variant-association-studies-for-complex-kidney-traits-cfhr5-and-iga-nephropathy
#3
EDITORIAL
Krzysztof Kiryluk
No abstract text is available yet for this article.
September 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/26699407/identification-of-novel-candidate-circulating-biomarkers-for-malignant-soft-tissue-sarcomas-correlation-with-metastatic-progression
#4
Amalia Conti, Claudia Fredolini, Davide Tamburro, Giovanna Magagnoli, Weidong Zhou, Lance A Liotta, Piero Picci, Alessandra Luchini, Maria Serena Benassi
Soft tissue sarcomas (STS) are a heterogeneous group of rare tumors for which identification and validation of biological markers may improve clinical management. The fraction of low-molecular-weight (LMW) circulating proteins and fragments of proteins is a rich source of new potential biomarkers. To identify circulating biomarkers useful for STS early diagnosis and prognosis, we analyzed 53 high-grade STS sera using hydrogel core-shell nanoparticles that selectively entrap LMW proteins by size exclusion and affinity chromatography, protect them from degradation and amplify their concentration for mass spectrometry detection...
February 2016: Proteomics
https://www.readbyqxmd.com/read/26283675/high-throughput-genetic-testing-for-thrombotic-microangiopathies-and-c3-glomerulopathies
#5
Fengxiao Bu, Nicolo Ghiringhelli Borsa, Michael B Jones, Erika Takanami, Carla Nishimura, Jill J Hauer, Hela Azaiez, Elizabeth A Black-Ziegelbein, Nicole C Meyer, Diana L Kolbe, Yingyue Li, Kathy Frees, Michael J Schnieders, Christie Thomas, Carla Nester, Richard J H Smith
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 phenotypic similarities and underlying genetic commonalities. Variants in several genes contribute to the pathogenesis of these diseases, and identification of these variants may inform the diagnosis and treatment of affected patients. We have developed and validated a comprehensive genetic panel that screens all exons of all genes implicated in TMA and C3G...
April 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/25889427/clinico-pathologic-spectrum-of-c3-glomerulopathy-an-indian-experience
#6
Ganesh Kumar Viswanathan, Ritambhra Nada, Ashwani Kumar, Raja Ramachandran, Charan Singh Rayat, Vivekanand Jha, Vinay Sakhuja, Kusum Joshi
BACKGROUND: C3 glomerulopathy (C3GP) is characterized by deposition of complement C3 with absence/traces of immunoglobulins in the glomeruli and categorized into dense deposit disease (DDD), C3 glomerulonephritis (C3GN), complement factor H related protein 5(CFHR5) nephropathy etc. Collaborative efforts of pathologists, complement biologists and nephrologists worldwide are expanding the histomorphological pattern and laboratory findings related to C3GP. Hence, we studied point prevalence and morphological spectrum of C3GP in Indian patients to correlate morphological patterns with standard therapies and outcome of the patients...
March 17, 2015: Diagnostic Pathology
https://www.readbyqxmd.com/read/25855355/factor-h-related-protein-5-interacts-with-pentraxin-3-and-the-extracellular-matrix-and-modulates-complement-activation
#7
Ádám I Csincsi, Anne Kopp, Miklós Zöldi, Zsófia Bánlaki, Barbara Uzonyi, Mario Hebecker, Joseph J E Caesar, Matthew C Pickering, Kenji Daigo, Takao Hamakubo, Susan M Lea, Elena Goicoechea de Jorge, Mihály Józsi
The physiological roles of the factor H (FH)-related proteins are controversial and poorly understood. Based on genetic studies, FH-related protein 5 (CFHR5) is implicated in glomerular diseases, such as atypical hemolytic uremic syndrome, dense deposit disease, and CFHR5 nephropathy. CFHR5 was also identified in glomerular immune deposits at the protein level. For CFHR5, weak complement regulatory activity and competition for C3b binding with the plasma complement inhibitor FH have been reported, but its function remains elusive...
May 15, 2015: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/24671835/-c3-glomerulopathy
#8
EDITORIAL
Cristiana Rollino
C3 glomerulopathy includes C3 glomerulonephritis, Dense Deposit Disease, Factor H-Related Protein 5 (CFHR5) nephropathy and most atypical acute postinfectious glomerulonephritis. The characteristic of this nephropathy is C3 deposits without immunoglobulins. Light microscopy pattern can be mesangial proliferative or membrano-proliferative. A dysregulation of complement is at the base of the disease: acquired changes (autoantibodies anti-C3 convertase -C3 Nephritic Factor-, anti-factor H, I or B) or genetic changes (mutations of factors B, H, I, or 1-5 Factor H-related proteins) are found...
January 2014: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/24536001/a-novel-cfhr5-mutation-associated-with-c3-glomerulonephritis-in-a-turkish-girl
#9
Nesrin Besbas, Bora Gulhan, Safak Gucer, Emine Korkmaz, Fatih Ozaltin
C3 glomerulopathy defines a subgroup of membranoproliferative glomerulonephritis (MPGN) characterized by complement 3 (C3)-positive, immunoglobulin-negative deposits in immunofluorescence microscopy. It comprises 3 clinical conditions: dense deposit disease, C3 glomerulonephritis, and complement factor H-related 5 (CFHR5) nephropathy. Mutations in genes encoding regulatory proteins of the alternative complement pathway have been described. A 16-year-old girl was admitted to the hospital due to periorbital edema...
August 2014: Journal of Nephrology
https://www.readbyqxmd.com/read/24334459/complement-factor-h-related-hybrid-protein-deregulates-complement-in-dense-deposit-disease
#10
Qian Chen, Michael Wiesener, Hannes U Eberhardt, Andrea Hartmann, Barbara Uzonyi, Michael Kirschfink, Kerstin Amann, Maike Buettner, Tim Goodship, Christian Hugo, Christine Skerka, Peter F Zipfel
The renal disorder C3 glomerulopathy with dense deposit disease (C3G-DDD) pattern results from complement dysfunction and primarily affects children and young adults. There is no effective treatment, and patients often progress to end-stage renal failure. A small fraction of C3G-DDD cases linked to factor H or C3 gene mutations as well as autoantibodies have been reported. Here, we examined an index family with 2 patients with C3G-DDD and identified a chromosomal deletion in the complement factor H-related (CFHR) gene cluster...
January 2014: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/24067434/a-novel-cfhr5-fusion-protein-causes-c3-glomerulopathy-in-a-family-without-cypriot-ancestry
#11
Nicholas Medjeral-Thomas, Talat H Malik, Mitali P Patel, Tibor Toth, H Terence Cook, Charles Tomson, Matthew C Pickering
C3 glomerulopathy describes glomerular pathology associated with predominant deposition of complement C3 including dense deposit disease and C3 glomerulonephritis. Familial C3 glomerulonephritis has been associated with rearrangements affecting the complement factor H-related (CFHR) genes. These include a hybrid CFHR3-1 gene and an internal duplication within the CFHR5 gene. CFHR5 nephropathy, to date, occurred exclusively in patients with Cypriot ancestry, and is associated with a heterozygous internal duplication of the CFHR5 gene resulting in duplication of the exons encoding the first two domains of the CFHR5 protein...
April 2014: Kidney International
https://www.readbyqxmd.com/read/23830046/complement-factor-h-related-proteins-cfhrs
#12
REVIEW
Christine Skerka, Qian Chen, Veronique Fremeaux-Bacchi, Lubka T Roumenina
Factor H related proteins comprise a group of five plasma proteins: CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5, and each member of this group binds to the central complement component C3b. Mutations, genetic deletions, duplications or rearrangements in the individual CFHR genes are associated with a number of diseases including atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathies (C3 glomerulonephritis (C3GN), dense deposit disease (DDD) and CFHR5 nephropathy), IgA nephropathy, age related macular degeneration (AMD) and systemic lupus erythematosus (SLE)...
December 15, 2013: Molecular Immunology
https://www.readbyqxmd.com/read/23523162/inclusion-of-genotype-with-fundus-phenotype-improves-accuracy-of-predicting-choroidal-neovascularization-and-geographic-atrophy
#13
RANDOMIZED CONTROLLED TRIAL
Lorah T Perlee, Aruna T Bansal, Karen Gehrs, Jeffrey S Heier, Karl Csaky, Rando Allikmets, Paul Oeth, Toni Paladino, Daniel H Farkas, P Lyle Rawlings, Gregory S Hageman
PURPOSE: The accuracy of predicting conversion from early-stage age-related macular degeneration (AMD) to the advanced stages of choroidal neovascularization (CNV) or geographic atrophy (GA) was evaluated to determine whether inclusion of clinically relevant genetic markers improved accuracy beyond prediction using phenotypic risk factors alone. DESIGN: Cohort study. PARTICIPANTS: White, non-Hispanic subjects participating in the Age-Related Eye Disease Study (AREDS) sponsored by the National Eye Institute consented to provide a genetic specimen...
September 2013: Ophthalmology
https://www.readbyqxmd.com/read/23516419/epistatic-role-of-the-myh9-apol1-region-on-familial-hematuria-genes
#14
Konstantinos Voskarides, Panayiota Demosthenous, Louiza Papazachariou, Maria Arsali, Yiannis Athanasiou, Michalis Zavros, Kostas Stylianou, Dimitris Xydakis, Eugenios Daphnis, Daniel P Gale, Patrick H Maxwell, Avraam Elia, Cristian Pattaro, Alkis Pierides, Constantinos Deltas
Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes associated with CKD, may be associated with adverse progression in FH. Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as "Mild" (controls) or "Severe" (cases), based on renal manifestations...
2013: PloS One
https://www.readbyqxmd.com/read/23479095/recent-insights-into-c3-glomerulopathy
#15
REVIEW
Thomas D Barbour, Matthew C Pickering, H Terence Cook
'C3 glomerulopathy' is a recent disease classification comprising several rare types of glomerulonephritis (GN), including dense deposit disease (DDD), C3 glomerulonephritis (C3GN) and CFHR5 nephropathy. These disorders share the key histological feature of isolated complement C3 deposits in the glomerulus. A common aetiology involving dysregulation of the alternative pathway (AP) of complement has been elucidated in the past decade, with genetic defects and/or autoantibodies able to be identified in a proportion of patients...
July 2013: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/23402027/c3-glomerulonephritis-cfhr5-nephropathy-is-an-endemic-disease-in-cyprus-clinical-and-molecular-findings-in-21-families
#16
REVIEW
Constantinos Deltas, Daniel Gale, Terence Cook, Konstantinos Voskarides, Yiannis Athanasiou, Alkis Pierides
Microscopic haematuria is the presenting symptom of several conditions, either heritable or acquired. A well-recognized familial condition is Alport syndrome, either of X-linked or autosomal recessive inheritance, as well as thin basement membrane nephropathy (TBMN) because of heterozygous collagen IV mutations. Even though microscopic haematuria of TBMN was long considered as a benign disease with excellent prognosis, more recent data suggest that development of chronic kidney disease (CKD) and even end-stage kidney disease (ESKD) is not a rare finding, perhaps owing to the cofounding role of modifier genes and other factors...
2013: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/23325022/how-benign-is-hematuria-using-genetics-to-predict-prognosis
#17
REVIEW
Daniel P Gale
Hematuria is a common presenting feature of glomerular disease and is sometimes associated with kidney failure later in life. Where isolated microscopic hematuria occurs in children and young adults, an underlying monogenic disorder, such as Alport syndrome or thin basement membrane nephropathy, is frequently responsible. In this review, these and other diseases, which often present with isolated microscopic hematuria, including hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome, IgA nephropathy, and CFHR5 nephropathy, are discussed together with the associated molecular pathology, clinical features, and prognosis...
August 2013: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/23219363/complement-regulator-acquiring-surface-proteins-of-borrelia-burgdorferi-structure-function-and-regulation-of-gene-expression
#18
REVIEW
Peter Kraiczy, Brian Stevenson
Borrelia burgdorferi, the etiological agent of Lyme disease, exploits an array of strategies to establish infection and to overcome host innate and adaptive immune responses. One key borrelial immune escape mechanism involves the inactivation of host complement attack through acquisition of human immune regulators factor H (CFH), factor H-like protein 1 (FHL1), factor H-related protein 1 (CFHR1), CFHR2, and/or CFHR5. Binding of these host proteins is primarily mediated by bacterial surface-exposed proteins that have been collectively referred to as complement regulator-acquiring surface proteins, or CRASPs...
February 2013: Ticks and Tick-borne Diseases
https://www.readbyqxmd.com/read/23125424/c3-glomerulonephritis-and-cfhr5-nephropathy
#19
REVIEW
Daniel P Gale, Patrick H Maxwell
Complement is an important aspect of defence against infection and its activation and regulation are finely balanced. Disordered complement regulation can lead to C3 glomerulonephritis (C3GN), which is characterized by complement (but not immunoglobulin) deposition in the glomerulus of the kidney. Although only recently recognized as a clinical entity, C3GN is important and elucidation of its molecular causes, by studies of single cases and families, has identified key proteins that protect the kidney from complement-mediated damage...
February 2013: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/22990703/c3-glomerulonephritis-cfhr5-nephropathy-is-an-endemic-disease-in-cyprus-clinical-and-molecular-findings-in-21-families
#20
Constantinos Deltas, Daniel Gale, Terence Cook, Konstantinos Voskarides, Yiannis Athanasiou, Alkis Pierides
Microscopic haematuria is the presenting symptom of several conditions, either heritable or acquired. A well-recognized familial condition is Alport syndrome, either of X-linked or autosomal recessive inheritance, as well as thin basement membrane nephropathy (TBMN) because of heterozygous collagen IV mutations. Even though microscopic haematuria of TBMN was long considered as a benign disease with excellent prognosis, more recent data suggest that development of chronic kidney disease (CKD) and even end-stage kidney disease (ESKD) is not a rare finding, perhaps owing to the cofounding role of modifier genes and other factors...
2013: Advances in Experimental Medicine and Biology
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