Genetic etiologies of glaucoma

JL Wiggs - Archives of ophthalmology, 2007 - jamanetwork.com
Glaucoma can be inherited as a mendelian autosomal-dominant or autosomal-recessive
trait, or as a complex multifactorial trait. Genetic approaches have helped define the …

[HTML][HTML] Myocilin-associated glaucoma: a historical perspective and recent research progress

R Sharma, A Grover - Molecular Vision, 2021 - ncbi.nlm.nih.gov
Glaucoma a debilitating disease, is globally the second most common kind of permanent
blindness. Primary open-angle glaucoma (POAG) is its most prevalent form and is often …

Physiological function of myocilin and its role in the pathogenesis of glaucoma in the trabecular meshwork

H Wang, M Li, Z Zhang, H Xue… - … journal of molecular …, 2019 - spandidos-publications.com
Myocilin is highly expressed in the trabecular meshwork (TM), which plays an important role
in the regulation of intraocular pressure (IOP). Myocilin abnormalities may cause dysfunction …

Olfactomedin domain-containing proteins: possible mechanisms of action and functions in normal development and pathology

SI Tomarev, N Nakaya - Molecular neurobiology, 2009 - Springer
A family of olfactomedin domain-containing proteins consists of at least 13 members in
mammals. Although the first protein belonging to this family, olfactomedin, was isolated and …

Glaucoma-associated myocilin: a better understanding but much more to learn

ZT Resch, MP Fautsch - Experimental eye research, 2009 - Elsevier
Over a decade has passed since myocilin was identified as the first gene linked to early and
late-onset primary open-angle glaucoma. During this time, considerable effort has been put …

New perspectives in aqueous humor secretion and in glaucoma: the ciliary body as a multifunctional neuroendocrine gland

M Coca-Prados, J Escribano - Progress in retinal and eye research, 2007 - Elsevier
The discovery in the human ocular ciliary body of glaucoma-associated genes (ie, MYOC,
CYP1B1), neuroendocrine processing enzymes, neuroendocrine peptides, steroid …

Olfactomedin proteins: central players in development and disease

RRH Anholt - Frontiers in cell and developmental biology, 2014 - frontiersin.org
Olfactomedin proteins are characterized by a conserved domain of\texorpdfstring~\
textasciitilde250 amino acids corresponding to the olfactomedin archetype first discovered in …

Recent developments in understanding the pathophysiology of elevated intraocular pressure

JCH Tan, DM Peters, PL Kaufman - Current opinion in …, 2006 - journals.lww.com
These findings represent advances in understanding physiological and pathogenic
mechanisms within the trabecular meshwork that are relevant to intraocular pressure …

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 …

Molecular complexity of primary open angle glaucoma: current concepts

K Ray, S Mookherjee - Journal of genetics, 2009 - Springer
Glaucoma is a group of heterogeneous optic neuropathies with complex genetic basis.
Among the three principle subtypes of glaucoma, primary open angle glaucoma (POAG) …