Cargando…

Crx(Rdy) Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis

PURPOSE: Mutations in the retinal transcription factor cone-rod homeobox (CRX) gene result in severe dominant retinopathies. A large animal model, the Rdy cat, carrying a spontaneous frameshift mutation in Crx, was reported previously. The present study aimed to further understand pathogenesis in th...

Descripción completa

Detalles Bibliográficos
Autores principales:	Occelli, Laurence M., Tran, Nicholas M., Narfström, Kristina, Chen, Shiming, Petersen-Jones, Simon M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2016
Materias:	Retinal Cell Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960999/ https://www.ncbi.nlm.nih.gov/pubmed/27427859 http://dx.doi.org/10.1167/iovs.16-19444

Ejemplares similares

Cat LCA-CRX Model, Homozygous for an Antimorphic Mutation Has a Unique Phenotype
por: Occelli, Laurence M., et al.
Publicado: (2023)

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis
por: Ibrahim, M. T., et al.
Publicado: (2018)

Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids
por: Kruczek, Kamil, et al.
Publicado: (2021)

Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells
por: Lakowski, J., et al.
Publicado: (2010)

Mechanistically Distinct Mouse Models for CRX-Associated Retinopathy
por: Tran, Nicholas M., et al.
Publicado: (2014)

Crx Is Posttranscriptionally Regulated by Light Stimulation in Postnatal Rat Retina
por: Wu, Yihui, et al.
Publicado: (2020)

CRX directs photoreceptor differentiation by accelerating chromatin remodeling at specific target sites
por: Ruzycki, Philip A., et al.
Publicado: (2018)

CRX Is a Diagnostic Marker of Retinal and Pineal Lineage Tumors
por: Santagata, Sandro, et al.
Publicado: (2009)

Graded gene expression changes determine phenotype severity in mouse models of CRX-associated retinopathies
por: Ruzycki, Philip A., et al.
Publicado: (2015)

Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms
por: Zheng, Yiqiao, et al.
Publicado: (2023)

Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms
por: Zheng, Yiqiao, et al.
Publicado: (2023)

Of eyes and embryos: subfunctionalization of the CRX homeobox gene in mammalian evolution
por: Royall, Amy H., et al.
Publicado: (2019)

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans
por: Kim, Dong Geun, et al.
Publicado: (2023)

Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors
por: Shepherdson, James L., et al.
Publicado: (2023)

CRX Expression in Pluripotent Stem Cell‐Derived Photoreceptors Marks a Transplantable Subpopulation of Early Cones
por: Collin, Joseph, et al.
Publicado: (2019)

Crx-L253X Mutation Produces Dominant Photoreceptor Defects in TVRM65 Mice
por: Ruzycki, Philip A., et al.
Publicado: (2017)

Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice
por: Morrow, Eric M, et al.
Publicado: (2005)

Molecular characterization of Leber congenital amaurosis in Koreans
por: Seong, Moon-Woo, et al.
Publicado: (2008)

CRX haploinsufficiency compromises photoreceptor precursor translocation and differentiation in human retinal organoids
por: Pan, Deng, et al.
Publicado: (2023)

The genetic profile of Leber congenital amaurosis in an Australian cohort
por: Thompson, Jennifer A., et al.
Publicado: (2017)

RNA-based therapies in animal models of Leber congenital amaurosis causing blindness
por: Wang, Xia, et al.
Publicado: (2020)

CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene
por: Langmann, Thomas, et al.
Publicado: (2008)

Efficacy and safety of a novel synergistic drug candidate, CRx-102, in hand osteoarthritis
por: Kvien, T K, et al.
Publicado: (2008)

NMNAT1 mutations cause Leber congenital amaurosis
por: Falk, Marni J, et al.
Publicado: (2012)

Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
por: Cideciyan, Artur V., et al.
Publicado: (2019)

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
por: Panneman, Daan M., et al.
Publicado: (2023)

Synthesis of Metal Matrix Composites Based on CrxNiy-TiN for Additive Technology
por: Matveev, Alexey, et al.
Publicado: (2021)

CRX-527 induced differentiation of HSCs protecting the intestinal epithelium from radiation damage
por: Liu, Dongshu, et al.
Publicado: (2022)

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
por: Han, Jinu, et al.
Publicado: (2017)

Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
por: Uyhazi, Katherine E., et al.
Publicado: (2020)

Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations
por: Huang, Chu-Hsuan, et al.
Publicado: (2021)

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis
por: Weisschuh, Nicole, et al.
Publicado: (2018)

Lipid A analog CRX-527 conjugated to synthetic peptides enhances vaccination efficacy and tumor control
por: Tondini, Elena, et al.
Publicado: (2022)

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients
por: Melillo, Paolo, et al.
Publicado: (2012)

Novel mutation identified in Leber congenital amaurosis - a case report
por: Sato, Shigeru, et al.
Publicado: (2020)

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
por: Miyamichi, Daisuke, et al.
Publicado: (2019)

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
por: Skorczyk-Werner, Anna, et al.
Publicado: (2020)

The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis
por: Berger, Silke, et al.
Publicado: (2023)

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
por: Siemiatkowska, Anna M., et al.
Publicado: (2014)

Mutations in the DNA-Binding Domain of NR2E3 Affect In Vivo Dimerization and Interaction with CRX
por: Roduit, Raphael, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_rrivp3ij1kkqk9sft1j2tq1i8v