North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
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Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7A Method for Sectioning and Immunohistochemical Analysis of Stem Cell-Derived 3-D OrganoidscGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindnessNorth Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.Prdm13 forms a feedback loop with Ptf1a and is required for glycinergic amacrine cell genesis in the Xenopus Retina.Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.Molecular findings from 537 individuals with inherited retinal disease.Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal DegenerationThe clinical implications of molecular monitoring and analyses of inherited retinal diseases.Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.Benign Yellow Dot Maculopathy: A New Macular Phenotype.Prdm13 is required for Ebf3+ amacrine cell formation in the retina.Fundus autofluorescence imaging in hereditary retinal diseases.Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.Generation of Xeno-Free, cGMP-Compliant Patient-Specific iPSCs from Skin Biopsy
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P2860
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
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2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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name
North Carolina Macular Dystrop ...... l Transcription Factor PRDM13.
@ast
North Carolina Macular Dystrop ...... l Transcription Factor PRDM13.
@en
type
label
North Carolina Macular Dystrop ...... l Transcription Factor PRDM13.
@ast
North Carolina Macular Dystrop ...... l Transcription Factor PRDM13.
@en
prefLabel
North Carolina Macular Dystrop ...... l Transcription Factor PRDM13.
@ast
North Carolina Macular Dystrop ...... l Transcription Factor PRDM13.
@en
P2093
P2860
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North Carolina Macular Dystrop ...... al Transcription Factor PRDM13
@en
P2093
Adam P DeLuca
Bernard Puech
Charles A Garcia
Christine M Haas
Gerald A Fishman
Kent W Small
Luan M Streb
Nitin Udar
Rosemary Silva-Garcia
Thomas A Rice
P2860
P356
10.1016/J.OPHTHA.2015.10.006
P50
P577
2015-10-24T00:00:00Z