Genes and mutations causing retinitis pigmentosa
SP Daiger, LS Sullivan, SJ Bowne - Clinical genetics, 2013 - Wiley Online Library
Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many
disease‐causing genes, many known mutations, and highly varied clinical consequences …
disease‐causing genes, many known mutations, and highly varied clinical consequences …
The role of inflammation in retinal neurodegeneration and degenerative diseases
Retinal neurodegeneration is predominantly reported as the apoptosis or impaired function
of the photoreceptors. Retinal degeneration is a major causative factor of irreversible vision …
of the photoreceptors. Retinal degeneration is a major causative factor of irreversible vision …
Photoreceptor cilia and retinal ciliopathies
KM Bujakowska, Q Liu… - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
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) …
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …
The role of primary cilia in the development and disease of the retina
The normal development and function of photoreceptors is essential for eye health and
visual acuity in vertebrates. Mutations in genes encoding proteins involved in photoreceptor …
visual acuity in vertebrates. Mutations in genes encoding proteins involved in photoreceptor …
[HTML][HTML] Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
Retinal dystrophies (RDs) are degenerative diseases of the retina which have marked
clinical and genetic heterogeneity. Common presentations among these disorders include …
clinical and genetic heterogeneity. Common presentations among these disorders include …
Cellular and molecular mechanisms of pathogenesis underlying inherited retinal dystrophies
A Manley, BI Meshkat, MM Jablonski, TJ Hollingsworth - Biomolecules, 2023 - mdpi.com
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …
Non-syndromic retinal ciliopathies: translating gene discovery into therapy
A Estrada-Cuzcano, R Roepman… - Human molecular …, 2012 - academic.oup.com
Homozygosity mapping and exome sequencing have accelerated the discovery of gene
mutations and modifier alleles implicated in inherited retinal degeneration in humans. To …
mutations and modifier alleles implicated in inherited retinal degeneration in humans. To …
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome
N Luo, CC West, CA Murga-Zamalloa… - Human molecular …, 2012 - academic.oup.com
Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked
congenital disorder characterized by congenital cataracts and glaucoma, mental retardation …
congenital disorder characterized by congenital cataracts and glaucoma, mental retardation …
Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario
MU Ali, MSU Rahman, J Cao, PX Yuan - 3 Biotech, 2017 - Springer
Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000–8000
individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is …
individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is …