Immunology of AAV-mediated gene transfer in the eye
K Willett, J Bennett - Frontiers in immunology, 2013 - frontiersin.org
The eye has been at the forefront of translational gene therapy largely owing to suitable
disease targets, anatomic accessibility, and well-studied immunologic privilege. These …
disease targets, anatomic accessibility, and well-studied immunologic privilege. These …
Impact of biobanks on research outcomes in rare diseases: a systematic review
Background Alleviating the burden of rare diseases requires research into new diagnostic
and therapeutic strategies. We undertook a systematic review to identify and compare the …
and therapeutic strategies. We undertook a systematic review to identify and compare the …
Mutations in human IFT140 cause non-syndromic retinal degeneration
Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are two genetically
heterogeneous retinal degenerative disorders. Despite the identification of a number of …
heterogeneous retinal degenerative disorders. Despite the identification of a number of …
NGS-based Molecular diagnosis of 105 eyeGENE® probands with Retinitis Pigmentosa
Abstract The National Ophthalmic Disease Genotyping and Phenotyping Network
(eyeGENE®) was established in an effort to facilitate basic and clinical research of human …
(eyeGENE®) was established in an effort to facilitate basic and clinical research of human …
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis
Patients with inherited retinal dystrophies (IRDs) were recruited from two understudied
populations: Mexico and Pakistan as well as a third well-studied population of European …
populations: Mexico and Pakistan as well as a third well-studied population of European …
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network
KE Goetz, MJ Reeves, S Gagadam… - American Journal of …, 2020 - Wiley Online Library
Genetic testing in a multisite clinical trial network for inherited eye conditions is described in
this retrospective review of data collected through eyeGENE®, the National Ophthalmic …
this retrospective review of data collected through eyeGENE®, the National Ophthalmic …
Genotype–phenotype associations in a large PRPH2‐related retinopathy cohort
Molecular variant interpretation lacks disease gene‐specific cohorts for determining variant
enrichment in disease versus healthy populations. To address the molecular etiology of …
enrichment in disease versus healthy populations. To address the molecular etiology of …
Next-generation technologies and strategies for the management of retinoblastoma
HV Gudiseva, JL Berry, A Polski, SJ Tummina… - Genes, 2019 - mdpi.com
Retinoblastoma (RB) is an inherited retinal disorder (IRD) caused by the mutation in the RB1
gene or, rarely, by alterations in the MYCN gene. In recent years, new treatment advances …
gene or, rarely, by alterations in the MYCN gene. In recent years, new treatment advances …
[HTML][HTML] Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development …
HJ Yang, R Ratnapriya, T Cogliati, JW Kim… - Progress in retinal and …, 2015 - Elsevier
Genomics and genetics have invaded all aspects of biology and medicine, opening
uncharted territory for scientific exploration. The definition of “gene” itself has become …
uncharted territory for scientific exploration. The definition of “gene” itself has become …
[HTML][HTML] Cone structure persists beyond margins of short-wavelength autofluorescence in choroideremia
KG Foote, N Rinella, J Tang, N Bensaid… - … & visual science, 2019 - tvst.arvojournals.org
Purpose: We studied the relationship between structure and function of the choriocapillaris
(CC), retinal pigment epithelium (RPE), and photoreceptors in patients with choroideremia …
(CC), retinal pigment epithelium (RPE), and photoreceptors in patients with choroideremia …