Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
C Zeitz, SG Jacobson, CP Hamel, K Bujakowska… - The American Journal of …, 2013 - cell.com
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous
retinal disorder. Two forms can be distinguished clinically: complete CSNB (cCSNB) and …
retinal disorder. Two forms can be distinguished clinically: complete CSNB (cCSNB) and …
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness
C Zeitz, B Kloeckener-Gruissem, U Forster… - The American Journal of …, 2006 - cell.com
Mutations in genes encoding either components of the phototransduction cascade or
proteins presumably involved in signaling from photoreceptors to adjacent second-order …
proteins presumably involved in signaling from photoreceptors to adjacent second-order …
Review of hair cell synapse defects in sensorineural hearing impairment
Review of Hair Cell Synapse Defects in Sensorineural Hearing... : Otology & Neurotology
Review of Hair Cell Synapse Defects in Sensorineural Hearing Impairment : Otology & …
Review of Hair Cell Synapse Defects in Sensorineural Hearing Impairment : Otology & …
[HTML][HTML] Insight into the molecular genetics of myopia
J Li, Q Zhang - Molecular vision, 2017 - ncbi.nlm.nih.gov
Myopia is the most common cause of visual impairment worldwide. Genetic and
environmental factors contribute to the development of myopia. Studies on the molecular …
environmental factors contribute to the development of myopia. Studies on the molecular …
[HTML][HTML] Calcium regulation in photoreceptors
D Krizaj, DR Copenhagen - Frontiers in bioscience: a journal and …, 2002 - ncbi.nlm.nih.gov
In this review we describe some of the remarkable and intricate mechanisms through which
the calcium ion (Ca 2+) contributes to detection, transduction and synaptic transfer of light …
the calcium ion (Ca 2+) contributes to detection, transduction and synaptic transfer of light …
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS
The past two decades have witnessed the emergence of a new and expanding field of
neurological diseases—the genetic ion channelopathies. These disorders arise from …
neurological diseases—the genetic ion channelopathies. These disorders arise from …
Channelopathy pathogenesis in autism spectrum disorders
Autism spectrum disorder (ASD) is a syndrome that affects normal brain development and is
characterized by impaired social interaction as well as verbal and non-verbal …
characterized by impaired social interaction as well as verbal and non-verbal …
Regulation of Voltage-Gated Ca2+ Channels by Calmodulin
DB Halling, P Aracena-Parks, SL Hamilton - Science's STKE, 2005 - science.org
Calmodulin, a highly versatile and ubiquitously expressed Ca2+ sensor, regulates the
function of many enzymes and ion channels. Both Ca2+-dependent inactivation and Ca2+ …
function of many enzymes and ion channels. Both Ca2+-dependent inactivation and Ca2+ …
Biochemistry and physiology of zebrafish photoreceptors
J Zang, SCF Neuhauss - Pflügers Archiv-European Journal of Physiology, 2021 - Springer
All vertebrates share a canonical retina with light-sensitive photoreceptors in the outer
retina. These photoreceptors are of two kinds: rods and cones, adapted to low and bright …
retina. These photoreceptors are of two kinds: rods and cones, adapted to low and bright …
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture
TP Dryja - American journal of ophthalmology, 2000 - Elsevier
PURPOSE: To compare the clinical findings of the various forms of stationary night
blindness caused by mutations in identified genes encoding proteins of photoreceptors or …
blindness caused by mutations in identified genes encoding proteins of photoreceptors or …