Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
Ciliopathies
DA Braun, F Hildebrandt - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
Partial recovery of visual function in a blind patient after optogenetic therapy
Optogenetics may enable mutation-independent, circuit-specific restoration of neuronal
function in neurological diseases. Retinitis pigmentosa is a neurodegenerative eye disease …
function in neurological diseases. Retinitis pigmentosa is a neurodegenerative eye disease …
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 …
[HTML][HTML] Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities
Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic
cause of combined hearing and vision loss. USH is classified into three types, based on the …
cause of combined hearing and vision loss. USH is classified into three types, based on the …
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing
Anaplastic thyroid carcinoma (ATC) is a frequently lethal malignancy that is often
unresponsive to available therapeutic strategies. The tumorigenesis of ATC and its …
unresponsive to available therapeutic strategies. The tumorigenesis of ATC and its …
The molecular basis of human retinal and vitreoretinal diseases
W Berger, B Kloeckener-Gruissem… - Progress in retinal and eye …, 2010 - Elsevier
During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …
of many human disorders, including retinal and vitreoretinal degenerations and …
Biology and therapy of inherited retinal degenerative disease: insights from mouse models
Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …
major cause of incurable vision loss. Tremendous progress has been made over the last two …
Neuropathogenesis of congenital cytomegalovirus infection: disease mechanisms and prospects for intervention
Congenital cytomegalovirus (CMV) infection is the leading infectious cause of mental
retardation and hearing loss in the developed world. In recent years, there has been an …
retardation and hearing loss in the developed world. In recent years, there has been an …
Orphan nuclear receptors: from gene to function
II. Nuclear Receptors: General Concepts A. Anatomy of nuclear receptors B. Mechanisms of
action III. Orphan Nuclear Receptors A. Definition
action III. Orphan Nuclear Receptors A. Definition