Exploring the contribution of ARMS2 and HTRA1 genetic risk factors in age-related macular degeneration

Y Pan, Y Fu, PN Baird, RH Guymer, T Das… - Progress in Retinal and …, 2023 - Elsevier
Age-related macular degeneration (AMD) is the leading cause of severe irreversible central
vision loss in individuals over 65 years old. Genome-wide association studies (GWASs) …

It is time for a moonshot to find “Cures” for diabetic retinal disease

SR Levine, P Sapieha, S Dutta, JK Sun… - Progress in Retinal and …, 2022 - Elsevier
Diabetic retinal disease (DRD), the most common complication of diabetes and a leading
cause of blindness in working age individuals, is now understood to be a form of sensory …

A systems biology approach uncovers novel disease mechanisms in age-related macular degeneration

LD Orozco, LA Owen, J Hofmann, AD Stockwell, J Tao… - Cell genomics, 2023 - cell.com
Age-related macular degeneration (AMD) is a leading cause of blindness, affecting 200
million people worldwide. To identify genes that could be targeted for treatment, we created …

C1q and the classical complement cascade in geographic atrophy secondary to age-related macular degeneration

T Yednock, DS Fong, EM Lad - International Journal of Retina and …, 2022 - Springer
Geographic atrophy (GA) secondary to age-related macular degeneration (AMD) is a retinal
neurodegenerative disorder. Human genetic data support the complement system as a key …

Molecular genetic mechanisms in age-related macular degeneration

A Shughoury, DD Sevgi, TA Ciulla - Genes, 2022 - mdpi.com
Age-related macular degeneration (AMD) is among the leading causes of irreversible
blindness worldwide. In addition to environmental risk factors, such as tobacco use and diet …

Human iPSC-based disease modeling studies identify a common mechanistic defect and potential therapies for AMD and related macular dystrophies

S Dalvi, M Roll, A Chatterjee, LK Kumar, A Bhogavalli… - Developmental Cell, 2024 - cell.com
Age-related macular degeneration (AMD) and related macular dystrophies (MDs) primarily
affect the retinal pigment epithelium (RPE) in the eye. A hallmark of AMD/MDs that drives …

Targeting lipid metabolism for the treatment of age-related macular degeneration: insights from preclinical mouse models

M Landowski, C Bowes Rickman - Journal of Ocular Pharmacology …, 2022 - liebertpub.com
Age-related macular degeneration (AMD) is a major leading cause of irreversible visual
impairment in the world with limited therapeutic interventions. Histological, biochemical …

[HTML][HTML] Systems genomics in age-related macular degeneration

AI den Hollander, RF Mullins, LD Orozco… - Experimental eye …, 2022 - Elsevier
Genomic studies in age-related macular degeneration (AMD) have identified genetic
variants that account for the majority of AMD risk. An important next step is to understand the …

Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression

MA Zouache, BT Richards, CM Pappas… - Nature …, 2024 - nature.com
Dysregulation of the alternative pathway (AP) of the complement system is a significant
contributor to age-related macular degeneration (AMD), a primary cause of irreversible …

Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci

CM Pappas, MA Zouache, S Matthews, CD Faust… - Human genomics, 2021 - Springer
Background Single-variant associations with age-related macular degeneration (AMD), one
of the most prevalent causes of irreversible vision loss worldwide, have been studied …