Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma
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 …
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 …
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 …
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
Background Recent clinical whole exome sequencing (WES) cohorts have identified
unanticipated multiple genetic diagnoses in single patients. However, the frequency of …
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 …
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 …
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
Basement membranes are highly specialized extracellular matrices. Once considered inert
scaffolds, basement membranes are now viewed as dynamic and versatile environments …
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 …
mechanical and biochemical support to epithelia, muscles, nerves, and blood vessels …
Unique metabolic features of stem cells, cardiomyocytes, and their progenitors
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 …
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 …
complex neurodegenerative disorder. This study addressed the expanding collection of …