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Article

Bringing the age-related macular degeneration high-risk allele age-related maculopathy susceptibility 2 into focus with stem cell technology.

Stem cell research & therapy - 6 Jun 2017

Sun Shuo, Li ZhiQing, Glencer Patrick, Cai BinCui, Zhang XiaoMin, Yang Jin, Li XiaoRong

Abstract excerpt

Age-related macular degeneration (AMD) is a major cause of blindness in older adults in developed countries. It is a multifactorial disease triggered by both environmental and genetic factors. High-temperature requirement A serine peptidase 1 (HTRA1) and age-related maculopathy susceptibility 2 (ARMS2) are two genes that are strongly associated with AMD. Because ARMS2 is an evolutionarily recent primate-specific...

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Source

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Identifiers

PMID: 28583181
DOI: 10.1186/s13287-017-0584-4
PMCID: PMC5460466

Genes

ARMS2
HTRA1
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Bringing the age-related macular degeneration high-risk allele age-related maculopathy susceptibility 2 into focus with stem cell technology.PMID 28583181Read ↗

Exploring the contribution of ARMS2 and HTRA1 genetic risk factors in age-related macular degeneration.Semantic proximity Read ↗

The Phenotypic Course of Age-Related Macular Degeneration for ARMS2/HTRA1: The EYE-RISK Consortium.Semantic proximity Read ↗

Impact of age-related maculopathy susceptibility 2, high-temperature requirement A serine peptidase 1, and complement factor H genetic variants on clinical phenotypes of age-related macular degeneration.Semantic proximity Read ↗

CRISPR editing demonstrates rs10490924 raised oxidative stress in iPSC-derived retinal cells from patients with ARMS2/HTRA1-related AMD.Semantic proximity Read ↗

HTRA1 (high temperature requirement A serine peptidase 1) gene is transcriptionally regulated by insertion/deletion nucleotides located at the 3' end of the ARMS2 (age-related maculopathy susceptibility 2) gene in patients with age-related macular degeneration.Semantic proximity Read ↗

Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians.Semantic proximity Read ↗

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.Semantic proximity Read ↗

Next-generation sequencing analysis of the ARMS2 gene in Turkish exudative age-related macular degeneration patients.Semantic proximity Read ↗

Validation of genome-wide association study (GWAS)-identified disease risk alleles with patient-specific stem cell lines.Semantic proximity Read ↗

Chromosome 10q26-driven age-related macular degeneration is associated with reduced levels of HTRA1 in human retinal pigment epithelium.Semantic proximity Read ↗

Binding of Gtf2i-β/δ transcription factors to the ARMS2 gene leads to increased circulating HTRA1 in AMD patients and in vitro.Semantic proximity Read ↗

[Age-related macular degeneration].Semantic proximity Read ↗

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