Cargando…

Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1

PURPOSE: Presently, 52 independent nuclear single nucleotide polymorphisms (nSNPs) have been associated with age-related macular degeneration (AMD) but their effects do not explain all its variance. Genetic interactions between the nuclear and mitochondrial (mt) genome may unearth additional genetic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Persad, Patrice J., Heid, Iris M., Weeks, Daniel E., Baird, Paul N., de Jong, Eiko K., Haines, Jonathan L., Pericak-Vance, Margaret A., Scott, William K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2017
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559178/ https://www.ncbi.nlm.nih.gov/pubmed/28813576 http://dx.doi.org/10.1167/iovs.17-21734

Ejemplares similares

Nonclinical Safety Evaluation of scAAV8-RLBP1 for Treatment of RLBP1 Retinitis Pigmentosa
por: MacLachlan, Timothy K., et al.
Publicado: (2017)

AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice
por: Choi, Vivian W, et al.
Publicado: (2015)

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

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)

Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP)
por: Green, Jane, et al.
Publicado: (2020)

Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus
por: Sardell, Rebecca J., et al.
Publicado: (2016)

The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review
por: Cooke Bailey, Jessica N., et al.
Publicado: (2016)

Plasma Metabolomics of Intermediate and Neovascular Age-Related Macular Degeneration Patients
por: Mitchell, Sabrina L., et al.
Publicado: (2021)

Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina
por: Schlegel, Domino K, et al.
Publicado: (2021)

Whole exome sequencing of extreme age-related macular degeneration phenotypes
por: Sardell, Rebecca J., et al.
Publicado: (2016)

Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12
por: Schmidt, Silke, et al.
Publicado: (2004)

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration
por: Grassmann, Felix, et al.
Publicado: (2017)

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

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)

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees
por: Al-Bdour, Muawyah, et al.
Publicado: (2020)

Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice
por: Lima de Carvalho, Jose Ronaldo, et al.
Publicado: (2020)

Modelling the Genetic Risk in Age-Related Macular Degeneration
por: Grassmann, Felix, et al.
Publicado: (2012)

Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study
por: Burstedt, Marie, et al.
Publicado: (2023)

Comprehensive Analysis of Copy Number Variation of Genes at Chromosome 1 and 10 Loci Associated with Late Age Related Macular Degeneration
por: Cantsilieris, Stuart, et al.
Publicado: (2012)

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

Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models
por: Hall, Jacob B., et al.
Publicado: (2015)

Relationship between the distribution of intra-retinal hyper-reflective foci and the progression of intermediate age-related macular degeneration
por: Verma, Aditya, et al.
Publicado: (2023)

The Carnitine Shuttle Pathway is Altered in Patients With Neovascular Age-Related Macular Degeneration
por: Mitchell, Sabrina L., et al.
Publicado: (2018)

Mitochondrial DNA Polymorphism A4917G Is Independently Associated with Age-Related Macular Degeneration
por: Canter, Jeffrey A., et al.
Publicado: (2008)

Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay
por: Kamat, Siddhesh S., et al.
Publicado: (2015)

Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium
por: Wen, Bin, et al.
Publicado: (2016)

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype–Genotype Correlation and Natural History in the Aim of Gene Therapy
por: Bocquet, Béatrice, et al.
Publicado: (2021)

Seven New Loci Associated with Age-Related Macular Degeneration
Publicado: (2013)

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish
por: McCauley, Jacob L, et al.
Publicado: (2006)

Using Genetic Variation and Environmental Risk Factor Data to Identify Individuals at High Risk for Age-Related Macular Degeneration
por: Spencer, Kylee L., et al.
Publicado: (2011)

A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens
por: Scimone, Concetta, et al.
Publicado: (2017)

Relative Telomere Length Is Associated With Age-Related Macular Degeneration in Women
por: Koller, Adriana, et al.
Publicado: (2022)

On the differences between mega‐ and meta‐imputation and analysis exemplified on the genetics of age‐related macular degeneration
por: Gorski, Mathias, et al.
Publicado: (2019)

Photostress Recovery Time as a Potential Predictive Biomarker for Age-Related Macular Degeneration
por: Brandl, Caroline, et al.
Publicado: (2023)

Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease
por: Winkler, Thomas W., et al.
Publicado: (2020)

Epistatic interactions of genetic loci associated with age-related macular degeneration
por: Kiel, Christina, et al.
Publicado: (2021)

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits
por: Grassmann, Felix, et al.
Publicado: (2017)

Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease
por: Xu, Jun, et al.
Publicado: (2018)

Probing the Interactions of Thiazole Abietane Inhibitors with the Human Serine Hydrolases ABHD16A and ABHD12
por: Ahonen, Tiina J., et al.
Publicado: (2023)

Views of ophthalmologists on the genetics of age-related macular degeneration: Results of a qualitative study
por: Loss, Julika, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_k9dji050noppr021t6c49l31e9