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Phenoty** and genoty** inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and in children. The scope of this review is to familiarise clinicians and scientists …
population and in children. The scope of this review is to familiarise clinicians and scientists …
[HTML][HTML] Non-syndromic retinitis pigmentosa
SK Verbakel, RAC van Huet, CJF Boon… - Progress in retinal and …, 2018 - Elsevier
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
Photoreceptors at a glance
Retinal photoreceptor cells contain a specialized outer segment (OS) compartment that
functions in the capture of light and its conversion into electrical signals in a process known …
functions in the capture of light and its conversion into electrical signals in a process known …
Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy
Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous
group of inherited retinal diseases characterised by cone photoreceptor degeneration …
group of inherited retinal diseases characterised by cone photoreceptor degeneration …
[HTML][HTML] Dynamic lipid turnover in photoreceptors and retinal pigment epithelium throughout life
The retinal pigment epithelium-photoreceptor interphase is renewed each day in a stunning
display of cellular interdependence. While photoreceptors use photosensitive pigments to …
display of cellular interdependence. While photoreceptors use photosensitive pigments to …
Ophthalmic drug discovery: novel targets and mechanisms for retinal diseases and glaucoma
Blindness affects 60 million people worldwide. The leading causes of irreversible blindness
include age-related macular degeneration, retinal vascular diseases and glaucoma. The …
include age-related macular degeneration, retinal vascular diseases and glaucoma. The …
CD133 as a biomarker for putative cancer stem cells in solid tumours: limitations, problems and challenges
P Grosse‐Gehling, CA Fargeas, C Dittfeld… - The Journal of …, 2013 - Wiley Online Library
The cancer stem cell (CSC) hypothesis, despite the limitations of the currently available
models and assays, has ushered in a new era of excitement in cancer research. The …
models and assays, has ushered in a new era of excitement in cancer research. The …
Photoreceptor cilia and retinal ciliopathies
Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …
responses. This process, called phototransduction, takes place in the outer segments (OS) …
Stem cells in retinal regeneration: past, present and future
Stem cell therapy for retinal disease is under way, and several clinical trials are currently
recruiting. These trials use human embryonic, foetal and umbilical cord tissue-derived stem …
recruiting. These trials use human embryonic, foetal and umbilical cord tissue-derived stem …