Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family
Authors
Keywords
-
Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 115, Issue 19, Pages E4433-E4442
Publisher
Proceedings of the National Academy of Sciences
Online
2018-04-24
DOI
10.1073/pnas.1717600115
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region
- (2016) Kiana Mohajeri et al. GENOME RESEARCH
- FHR3 Blocks C3d-Mediated Coactivation of Human B Cells
- (2016) Denise Buhlmann et al. JOURNAL OF IMMUNOLOGY
- Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden and lower antigenic levels in familial AMD
- (2016) Erin K. Wagner et al. Scientific Reports
- RareCFHmutations and early-onset age-related macular degeneration
- (2015) Anne E. Hughes et al. ACTA OPHTHALMOLOGICA
- Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
- (2015) Tychele N. Turner et al. HUMAN MOLECULAR GENETICS
- A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome
- (2015) R. C. Challis et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- An integrated map of structural variation in 2,504 human genomes
- (2015) Peter H. Sudmant et al. NATURE
- A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
- (2015) Lars G Fritsche et al. NATURE GENETICS
- Global diversity, population stratification, and selection of human copy-number variation
- (2015) Peter H. Sudmant et al. SCIENCE
- Resolving the complexity of the human genome using single-molecule sequencing
- (2014) Mark J. P. Chaisson et al. NATURE
- Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
- (2014) Francesca Antonacci et al. NATURE GENETICS
- Combined Complement Gene Mutations in Atypical Hemolytic Uremic Syndrome Influence Clinical Phenotype
- (2013) E. Bresin et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Great ape genetic diversity and population history
- (2013) Javier Prado-Martinez et al. NATURE
- Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration
- (2013) Johanna M Seddon et al. NATURE GENETICS
- Seven new loci associated with age-related macular degeneration
- (2013) Lars G Fritsche et al. NATURE GENETICS
- The Genotype-Tissue Expression (GTEx) project
- (2013) John Lonsdale et al. NATURE GENETICS
- A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome
- (2013) Stephen J. Eyler et al. PEDIATRIC NEPHROLOGY
- Human Factor H-Related Protein 2 (CFHR2) Regulates Complement Activation
- (2013) Hannes U. Eberhardt et al. PLoS One
- Dimerization of complement factor H-related proteins modulates complement activation in vivo
- (2013) E. Goicoechea de Jorge et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Microbes Bind Complement Inhibitor Factor H via a Common Site
- (2013) T. Meri et al. PLoS Pathogens
- Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
- (2012) Megan Y. Dennis et al. CELL
- A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome
- (2011) N. J. Francis et al. BLOOD
- A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
- (2011) Soumya Raychaudhuri et al. NATURE GENETICS
- A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration
- (2011) Theru A. Sivakumaran et al. PLoS One
- Association of Genetic Variants in Complement Factor H and Factor H-Related Genes with Systemic Lupus Erythematosus Susceptibility
- (2011) Jian Zhao et al. PLoS Genetics
- An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)
- (2010) Lars G. Fritsche et al. HUMAN MOLECULAR GENETICS
- Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS)
- (2010) D. Westra et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Diversity of Human Copy Number Variation and Multicopy Genes
- (2010) Peter H. Sudmant et al. SCIENCE
- Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation
- (2009) S. Heinen et al. BLOOD
- Complement evasion by human pathogens
- (2008) John D. Lambris et al. NATURE REVIEWS MICROBIOLOGY
- Factor H family proteins and human diseases
- (2008) Mihály Józsi et al. TRENDS IN IMMUNOLOGY
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started