Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Keyphrases

• Retinal Degeneration 100%
• Apicobasal Polarity 100%
• Adult-onset 100%
• Biallelic mutations 100%
• ARHGEF18 100%
• Knock 33%
• Genotype 16%
• Lethality 16%
• Large Cohort 16%
• Retina 16%
• Zebrafish 16%
• Encoded Protein 16%
• Missense Variants 16%
• Tight Junction 16%
• Genome Sequencing 16%
• Retinal Dystrophy 16%
• Biological Pathways 16%
• Functional Test 16%
• Guanine nucleotide Exchange Factor 16%
• Whole Exome 16%
• Conserved Residues 16%
• Adherens Junction 16%
• Potential Therapeutic Strategies 16%
• Sequence Method 16%
• Sequencing Studies 16%
• Retinal Development 16%
• CRB1 16%
• Medaka Fish 16%
• Retinal Function 16%
• Small GTP-binding Proteins 16%
• Inherited Retinal Dystrophies 16%
• Retinal Defect 16%
• Component Cause 16%
• Parallel Sequencing 16%
• Retinal Structure 16%
• Highly Parallel 16%
• CRB1 mutation 16%
• Crumbs Complex 16%

Biochemistry, Genetics and Molecular Biology

• Refined Hydrothermolytic Oxidation Acid 100%
• CRB1 100%
• Allele 50%
• Genotyping 50%
• Zebra Fish 50%
• Missense 50%
• Exome 50%
• Adherens Junction 50%
• Genome Sequencing 50%
• Small GTPase 50%
• Guanine Nucleotide Exchange Factor 50%
• Oryzias latipes 50%