Cargando…

Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk

PURPOSE: To investigate how potentially functional genetic variants are coinherited on each of four common complement factor H (CFH) and CFH-related gene haplotypes and to measure expression of these genes in eye and liver tissues. METHODS: We sequenced the CFH region in four individuals (one homozy...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hughes, Anne E., Bridgett, Stephen, Meng, Weihua, Li, Mingyao, Curcio, Christine A., Stambolian, Dwight, Bradley, Declan T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2016
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4884056/ https://www.ncbi.nlm.nih.gov/pubmed/27196323 http://dx.doi.org/10.1167/iovs.15-18744

Ejemplares similares

Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish
por: Waksmunski, Andrea R., et al.
Publicado: (2022)

Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina
por: Kanda, Atsuhiro, et al.
Publicado: (2010)

Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration
por: Osterman, Michael D., et al.
Publicado: (2022)

Complement factor B polymorphism 32W protects against age-related macular degeneration
por: Hughes, Anne E., et al.
Publicado: (2011)

Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration
por: Hallam, Thomas M., et al.
Publicado: (2020)

The Effect of Genetic Variants Associated With Age-Related Macular Degeneration Varies With Age
por: Schick, Tina, et al.
Publicado: (2020)

Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world
por: Morrison, Margaux A., et al.
Publicado: (2015)

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration
por: Tan, Perciliz L., et al.
Publicado: (2017)

Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration
por: Acar, Ilhan E., et al.
Publicado: (2023)

An Evaluation of the Complement-Regulating Activities of Human Complement Factor H (FH) Variants Associated With Age-Related Macular Degeneration
por: Biggs, Robyn M., et al.
Publicado: (2022)

Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration
por: Zhan, Xiaowei, et al.
Publicado: (2013)

Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish
por: Waksmunski, Andrea R., et al.
Publicado: (2019)

MATCHCLIP: locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads
por: Wu, Yinghua, et al.
Publicado: (2013)

As in Real Estate, Location Matters: Cellular Expression of Complement Varies Between Macular and Peripheral Regions of the Retina and Supporting Tissues
por: Zauhar, Randy, et al.
Publicado: (2022)

The complement system in age-related macular degeneration
por: Armento, Angela, et al.
Publicado: (2021)

Structural basis for complement factor H–linked age-related macular degeneration
por: Prosser, Beverly E., et al.
Publicado: (2007)

Regulation of age-related macular degeneration-like pathology by complement factor H
por: Toomey, Christopher B., et al.
Publicado: (2015)

Interaction of Complement Factor H and Fibulin3 in Age-Related Macular Degeneration
por: Wyatt, M. Keith, et al.
Publicado: (2013)

Complement factor H Val62Ile variant and risk of age-related macular degeneration: A meta-analysis
por: Yuan, Dongqing, et al.
Publicado: (2013)

Risk Factors for Progression of Age-Related Macular Degeneration: Population-Based Amish Eye Study
por: Nittala, Muneeswar G., et al.
Publicado: (2022)

Cell-Type-Specific Complement Expression in the Healthy and Diseased Retina
por: Pauly, Diana, et al.
Publicado: (2019)

Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1
por: Persad, Patrice J., et al.
Publicado: (2017)

Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank
por: Tzoumas, Nikolaos, et al.
Publicado: (2022)

Potential gene identification and pathway crosstalk analysis of age-related macular degeneration
por: Ren, Chengda, et al.
Publicado: (2022)

Systemic Complement Activation in Age-Related Macular Degeneration
por: Scholl, Hendrik P. N., et al.
Publicado: (2008)

Complement factor I and age-related macular degeneration
por: Alexander, Philip, et al.
Publicado: (2014)

“Complement-ary” Therapies for Age-Related Macular Degeneration
por: Lin, Jonathan B., et al.
Publicado: (2022)

Role of Complement in the Onset of Age-Related Macular Degeneration
por: Piri, Niloofar, et al.
Publicado: (2023)

Longitudinal evaluation of the distribution of intraretinal hyper-reflective foci in eyes with intermediate age-related macular degeneration
por: Sadda, Srinivas, et al.
Publicado: (2023)

Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration
por: Zelinger, Lina, et al.
Publicado: (2023)

Retinal Aging Transcriptome and Cellular Landscape in Association With the Progression of Age-Related Macular Degeneration
por: Wang, Jiang-Hui, et al.
Publicado: (2023)

Copy number variation in the complement factor H-related genes and age-related macular degeneration
por: Kubista, Katharina E., et al.
Publicado: (2011)

Exploring the Effect of the Gut Microbiome on the Risk of Age-Related Macular Degeneration From the Perspective of Causality
por: Liu, Kangcheng, et al.
Publicado: (2023)

Correction: Systemic Complement Activation in Age-Related Macular Degeneration
por: Scholl, Hendrik P. N., et al.
Publicado: (2008)

Correction: Systemic Complement Activation in Age-Related Macular Degeneration
por: Scholl, Hendrik P. N., et al.
Publicado: (2008)

Complement system and age-related macular degeneration: drugs and challenges
por: Wu, Jiali, et al.
Publicado: (2019)

Complement System and Potential Therapeutics in Age-Related Macular Degeneration
por: Park, Young Gun, et al.
Publicado: (2021)

Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration
por: Seddon, Johanna M., et al.
Publicado: (2022)

Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration
por: Acar, I. Erkin, et al.
Publicado: (2021)

Systems genomics in age-related macular degeneration
por: den Hollander, Anneke I., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_iujjlg77rsp4pg2ajekqq5enim