Elizabeth L. Cadena
A5015051942- Retinal Development and Disorders
- Advanced biosensing and bioanalysis techniques
- RNA regulation and disease
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- Ocular Disorders and Treatments
- Ocular Oncology and Treatments
- Fetal and Pediatric Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Corneal Surgery and Treatments
- Retinal Diseases and Treatments
- Microtubule and mitosis dynamics
- Genetic and Kidney Cyst Diseases
- Glaucoma and retinal disorders
- Cytomegalovirus and herpesvirus research
The University of Texas Health Science Center at Houston
2010-2024
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together U5 and ∼30 proteins, is part of U4/U6.U5 tri-snRNP complex, located at core major spliceosome. Recently, recurrent de novo variants in RNA, transcribed from RNU4-2 gene, least two other RNU genes were discovered to cause neurodevelopmental disorder. We detected inherited heterozygous (n.18_19insA n.56T>C) four out five RNU6 paralogues (n.55_56insG n.56_57insG) 135 individuals 62 families non-syndromic retinitis...
Purpose: To identify the causes of autosomal dominant retinitis pigmentosa (adRP) in a cohort families without mutations known adRP genes and consequently to characterize novel dominant-acting missense mutation SAG. Methods: Patients underwent ophthalmologic testing were screened for using targeted-capture whole-exome next-generation sequencing. Confirmation additional screening done by Sanger Haplotypes segregating with determined short tandem repeat single nucleotide variant polymorphisms....
Introduction Autosomal dominant retinitis pigmentosa type 17 (adRP, RP17) is caused by complex structural variants (SVs) affecting a locus on chromosome (chr17q22). The SVs disrupt the 3D regulatory landscape altering topologically associating domain (TAD) structure of locus, creating novel TAD structures (neo-TADs) and ectopic enhancer-gene contacts. Currently, screening for RP17-associated not included in routine diagnostics given complexity lack cost-effective detection methods. aim this...