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Advanced filters: Author: Sudeep Mehrotra Clear advanced filters

QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration

Here, the authors perform genome-wide mapping of DNA methylation and expression quantitative trait loci, revealing associations among genotype, epigenome and transcriptome, uncovering genes and gene-environment interactions contributing to age-related macular degeneration (AMD).

Jayshree Advani
Puja A. Mehta
Anand Swaroop
ResearchOpen Access04 Mar 2024
Nature Communications

Volume: 15, P: 1-20
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

Mutations in pre-mRNA processing factors cause autosomal dominant retinitis pigmentosa. Here the authors provide insights into the pathophysiological mechanisms underlying non-syndromic retinal disease caused by heterozygous mutations in genes encoding ubiquitously expressed splicing factors.

Adriana Buskin
Lili Zhu
Majlinda Lako
ResearchOpen Access12 Oct 2018
Nature Communications

Volume: 9, P: 1-19
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration

Farzad Jamshidi
Emily M. Place
Kinga M. Bujakowska
Research03 Aug 2018
Genetics in Medicine

Volume: 21, P: 694-704

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