Associated Papers
Prp16 enables efficient splicing of introns with diverse exonic consensus elements in the short-intron rich Cryptococcus neoformans transcriptome.
Negi MS et al.
Rna Biology, 2025
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
Correction: Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity.
Unknown Author
Plos One, 2023
36662708 (PubMed )
Supplement: pone.0280904.s001.pdf
Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity.
Obuća M et al.
Plos One, 2022
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
Early splicing functions of fission yeast Prp16 and its unexpected requirement for gene Silencing is governed by intronic features.
Vijayakumari D et al.
Rna Biology, 2019
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
Latif Z et al.
Investigative Ophthalmology & Visual Science, 2018
snRNP proteins in health and disease.
Krausová M et al.
Seminars in Cell & Developmental Biology, 2018
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š et al.
Rna Biology, 2017
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA et al.
Nature Genetics, 2017
28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila.
Zhu JY et al.
Elife, 2017
28084990 (PubMed )
Supplement: elife-22617-supp1.xlsx › Sheet1
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
Ajmal M et al.
Journal of Medical Genetics, 2014
A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa.
Al-Johani S et al.
Middle East African Journal of Ophthalmology, 0
Select a paper to view details