[HTML][HTML] Setting priorities for ageing research in Africa: A systematic mapping review of 512 studies from sub-Saharan Africa

ME Kalu, BU Ojembe, O Akinrolie, AC Okoh… - Journal of Global …, 2021 - ncbi.nlm.nih.gov
Background In 2040, the older population's growth rate in sub-Saharan Africa (SSA) will be
faster than those experienced by developed nations since 1950. In preparation for this …

A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response

RRH Anholt, MA Carbone - Trends in molecular medicine, 2013 - cell.com
Primary open angle glaucoma (POAG) is a common late-onset neurodegenerative disease.
Ocular hypertension represents a major risk factor, but POAG etiology remains poorly …

[HTML][HTML] Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry

Y Liu, MA Hauser, SK Akafo, X Qin… - … & visual science, 2013 - tvst.arvojournals.org
Purpose.: Multiple genes have been associated with primary open angle glaucoma (POAG)
in Caucasian populations. We now examine the association of these loci in populations of …

The primary open-angle african american glaucoma genetics study: baseline demographics

ES Charlson, PS Sankar, E Miller-Ellis, M Regina… - Ophthalmology, 2015 - Elsevier
Purpose To describe the baseline characteristics of the Primary Open-Angle African
American Glaucoma Genetics (POAAGG) study cohort, the largest African American …

Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma

Y Liu, RR Allingham, X Qin, D Layfield… - … & visual science, 2013 - iovs.arvojournals.org
Methods.: Primary open-angle glaucoma TM specimens were obtained from routine
trabeculectomy surgery. Nonglaucomatous control TM specimens were dissected from …

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data

HF Scelsi, BM Barlow, EG Saccuzzo… - Human …, 2021 - Wiley Online Library
Rare variants of the olfactomedin domain of myocilin are considered causative for inherited,
early‐onset open‐angle glaucoma, with a misfolding toxic gain‐of‐function pathogenic …

The genetics of POAG in black South Africans: a candidate gene association study

SEI Williams, TR Carmichael, RR Allingham… - Scientific reports, 2015 - nature.com
Multiple loci have been associated with either primary open angle glaucoma (POAG) or
heritable ocular quantitative traits associated with this condition. This study examined the …

Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients

PV Svidnicki, CA Braghini, VP Costa… - Ophthalmic …, 2018 - Taylor & Francis
Background: The purpose of this study was to screen juvenile open angle glaucoma (JOAG)
patients from Brazil for variants within the MYOC and CYP1B1 genes. Material and Methods …

[PDF][PDF] Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability

HF Scelsi, KR Hill, BM Barlow… - Disease Models & …, 2023 - journals.biologists.com
Accurate predictions of the pathogenicity of mutations associated with genetic diseases are
key to the success of precision medicine. Inherited missense mutations in the myocilin …

The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma

V Gupta, BI Somarajan, S Gupta, GK Walia, A Singh… - Eye, 2021 - nature.com
Purpose Juvenile onset primary open angle glaucoma (JOAG) is a rare disorder associated
with high IOP and progressive optic neuropathy in patients diagnosed before the age of 40 …