Congenital stationary night blindness: an analysis and update of genotype–phenotype correlations and pathogenic mechanisms

C Zeitz, AG Robson, I Audo - Progress in retinal and eye research, 2015 - Elsevier
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

Mammalian G proteins and their cell type specific functions

N Wettschureck, S Offermanns - Physiological reviews, 2005 - journals.physiology.org
Heterotrimeric G proteins are key players in transmembrane signaling by coupling a huge
variety of receptors to channel proteins, enzymes, and other effector molecules. Multiple …

[图书][B] The synaptic organization of the brain

GM Shepherd - 2003 - books.google.com
It is widely recognized that the neural basis of brain function can be fully understood only by
integrating many disciplines at many levels. Studies of synaptic organization are bringing …

Neural remodeling in retinal degeneration

RE Marc, BW Jones, CB Watt, E Strettoi - Progress in retinal and eye …, 2003 - Elsevier
Mammalian retinal degenerations initiated by gene defects in rods, cones or the retinal
pigmented epithelium (RPE) often trigger loss of the sensory retina, effectively leaving the …

Retinal TRP channels: Cell-type-specific regulators of retinal homeostasis and multimodal integration

D Križaj, S Cordeiro, O Strauß - Progress in Retinal and eye Research, 2023 - Elsevier
Transient receptor potential (TRP) channels are a widely expressed family of 28
evolutionarily conserved cationic ion channels that operate as primary detectors of chemical …

TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade

C Koike, T Obara, Y Uriu, T Numata… - Proceedings of the …, 2010 - National Acad Sciences
An essential step in intricate visual processing is the segregation of visual signals into ON
and OFF pathways by retinal bipolar cells (BCs). Glutamate released from photoreceptors …

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

I Audo, S Kohl, BP Leroy, FL Munier… - The American Journal of …, 2009 - cell.com
Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina.
Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption …

The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses

BO Chang, JR Heckenlively, PR Bayley… - Visual …, 2006 - cambridge.org
Glutamate release from photoreceptor terminals is controlled by voltage-dependent calcium
channels (VDCCs). In humans, mutations in the Cacna1f gene, encoding the α1F subunit of …

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

NS Peachey, TA Ray, R Florijn, LB Rowe… - The American Journal of …, 2012 - cell.com
Complete congenital stationary night blindness (cCSNB) is a clinically and genetically
heterogeneous group of retinal disorders characterized by nonprogressive impairment of …

The renin–angiotensin system in retinal health and disease: its influence on neurons, glia and the vasculature

EL Fletcher, JA Phipps, MM Ward, KA Vessey… - Progress in retinal and …, 2010 - Elsevier
Renin–Angiotensin System is classically recognized for its role in the control of systemic
blood pressure. However, the retina is recognized to have all the components necessary for …