Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma

JA Vranka, MJ Kelley, TS Acott, KE Keller - Experimental eye research, 2015 - Elsevier
The trabecular meshwork (TM) is located in the anterior segment of the eye and is
responsible for regulating the outflow of aqueous humor. Increased resistance to aqueous …

Alport syndrome and Pierson syndrome: diseases of the glomerular basement membrane

SD Funk, MH Lin, JH Miner - Matrix Biology, 2018 - Elsevier
The glomerular basement membrane (GBM) is an important component of the kidney's
glomerular filtration barrier. Like all basement membranes, the GBM contains type IV …

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

J Plaisancié, F Ceroni, R Holt, C Zazo Seco, P Calvas… - Human Genetics, 2019 - Springer
Eye formation is the result of coordinated induction and differentiation processes during
embryogenesis. Disruption of any one of these events has the potential to cause ocular …

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

TB Balci, T Hartley, Y Xi, DA Dyment… - Clinical …, 2017 - Wiley Online Library
Background Recent clinical whole exome sequencing (WES) cohorts have identified
unanticipated multiple genetic diagnoses in single patients. However, the frequency of …

The sulfilimine cross-link of collagen IV contributes to kidney tubular basement membrane stiffness

G Bhave, S Colon, N Ferrell - American Journal of …, 2017 - journals.physiology.org
Basement membranes (BMs), a specialized form of extracellular matrix, underlie nearly all
cell layers and provide structural support for tissues and interact with cell surface receptors …

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

P Blanchet, M Bebin, S Bruet, GM Cooper… - PLoS …, 2017 - journals.plos.org
Deletions at chromosome 2p25. 3 are associated with a syndrome consisting of intellectual
disability and obesity. The smallest region of overlap for deletions at 2p25. 3 contains PXDN …

Type IV collagens and basement membrane diseases: cell biology and pathogenic mechanisms

M Mao, MV Alavi, C Labelle-Dumais… - Current topics in …, 2015 - Elsevier
Basement membranes are highly specialized extracellular matrices. Once considered inert
scaffolds, basement membranes are now viewed as dynamic and versatile environments …

Peroxidasin is required for full viability in development and for maintenance of tissue mechanics in adults

KE Peebles, KS LaFever, PS Page-McCaw, S Colon… - Matrix Biology, 2024 - Elsevier
Basement membranes are thin strong sheets of extracellular matrix. They provide
mechanical and biochemical support to epithelia, muscles, nerves, and blood vessels …

Unique metabolic features of stem cells, cardiomyocytes, and their progenitors

JA Gaspar, MX Doss, JG Hengstler, C Cadenas… - Circulation …, 2014 - Am Heart Assoc
Recently, growing attention has been directed toward stem cell metabolism, with the key
observation that the plasticity of stem cells also reflects the plasticity of their energy substrate …

Characterizing the “POAGome”: A bioinformatics-driven approach to primary open-angle glaucoma

ID Danford, LD Verkuil, DJ Choi, DW Collins… - Progress in retinal and …, 2017 - Elsevier
Primary open-angle glaucoma (POAG) is a genetically, physiologically, and phenotypically
complex neurodegenerative disorder. This study addressed the expanding collection of …