Detalhe da pesquisa
1.
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
PLoS Genet
; 20(5): e1011230, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38713708
2.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
3.
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.
Mol Ther
; 32(3): 837-851, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243599
4.
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.
Hum Mol Genet
; 31(20): 3478-3493, 2022 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652445
5.
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Am J Hum Genet
; 108(2): 295-308, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508235
6.
A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.
Int J Mol Sci
; 25(8)2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674104
7.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
; 107(5): 802-814, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022222
8.
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Ophthalmology
; 130(4): 413-422, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36423731
9.
Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1.
Proc Natl Acad Sci U S A
; 117(27): 15684-15693, 2020 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571921
10.
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
Proc Natl Acad Sci U S A
; 117(18): 9922-9931, 2020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32312818
11.
Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy-lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment.
Hum Mol Genet
; 29(1): 80-96, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691796
12.
AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.
Hum Mol Genet
; 29(8): 1310-1318, 2020 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196553
13.
A look into retinal organoids: methods, analytical techniques, and applications.
Cell Mol Life Sci
; 78(19-20): 6505-6532, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420069
14.
Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.
J Neuroophthalmol
; 42(1): 35-44, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34629400
15.
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Am J Hum Genet
; 102(3): 447-459, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499165
16.
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
Am J Hum Genet
; 102(4): 528-539, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526280
17.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Am J Hum Genet
; 100(2): 334-342, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132693
18.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Am J Hum Genet
; 100(4): 592-604, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28285769
19.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Genet Med
; 22(12): 2041-2051, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32753734
20.
The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa.
Hum Mol Genet
; 26(24): 4896-4905, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29036441