The genetics of human ageing
The past two centuries have witnessed an unprecedented rise in human life expectancy.
Sustaining longer lives with reduced periods of disability will require an understanding of the …
Sustaining longer lives with reduced periods of disability will require an understanding of the …
Major review: Molecular genetics of primary open-angle glaucoma
Y Liu, RR Allingham - Experimental eye research, 2017 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common type, is a complex inherited disorder that is …
glaucoma (POAG), the most common type, is a complex inherited disorder that is …
[HTML][HTML] The Rotterdam Study: 2016 objectives and design update
A Hofman, GGO Brusselle, SD Murad… - European journal of …, 2015 - Springer
Abstract The Rotterdam Study is a prospective cohort study ongoing since 1990 in the city of
Rotterdam in The Netherlands. The study targets cardiovascular, endocrine, hepatic …
Rotterdam in The Netherlands. The study targets cardiovascular, endocrine, hepatic …
[HTML][HTML] A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci
H Choquet, S Paylakhi, SC Kneeland, KK Thai… - Nature …, 2018 - nature.com
Primary open-angle glaucoma (POAG) is a leading cause of irreversible vision loss, yet
much of the genetic risk remains unaccounted for, especially in African-Americans who have …
much of the genetic risk remains unaccounted for, especially in African-Americans who have …
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics
H Springelkamp, AI Iglesias, A Mishra… - Human molecular …, 2017 - academic.oup.com
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable
disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease …
disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease …
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma
ERA Collantes, MS Delfin, B Fan… - Human …, 2022 - Wiley Online Library
Juvenile open‐angle glaucoma (JOAG) is a severe type of glaucoma with onset before age
40 and dominant inheritance. Using exome sequencing we identified 3 independent families …
40 and dominant inheritance. Using exome sequencing we identified 3 independent families …
[HTML][HTML] A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure
H Choquet, KK Thai, J Yin, TJ Hoffmann… - Nature …, 2017 - nature.com
Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, a leading cause of
blindness. IOP heritability has been estimated to up to 67%, and to date only 11 IOP loci …
blindness. IOP heritability has been estimated to up to 67%, and to date only 11 IOP loci …
[HTML][HTML] The pathophysiological significance of fibulin-3
Fibulin-3 (also known as EGF-containing fibulin extracellular matrix protein 1 (EFEMP1)) is a
secreted extracellular matrix glycoprotein, encoded by the EFEMP1 gene that belongs to the …
secreted extracellular matrix glycoprotein, encoded by the EFEMP1 gene that belongs to the …
[HTML][HTML] Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits
Background Age-related macular degeneration (AMD) is a common condition of vision loss
with disease development strongly influenced by environmental and genetic factors …
with disease development strongly influenced by environmental and genetic factors …
[HTML][HTML] Commonalities of optic nerve injury and glaucoma-induced neurodegeneration: Insights from transcriptome-wide studies
Glaucoma is a collection of diseases that lead to an irreversible vision loss due to damage of
retinal ganglion cells (RGCs). Although the underlying events leading to RGC death are not …
retinal ganglion cells (RGCs). Although the underlying events leading to RGC death are not …