Incorporating exon–exon junction reads enhances differential splicing detection
Sign Up to like & getrecommendations! Published in 2025 at "BMC Bioinformatics"
DOI: 10.1186/s12859-025-06210-4
Abstract: Motivation RNA sequencing (RNA-seq) is a gold standard technology for studying gene and transcript expression. Different transcripts from the same gene are usually determined by varying combinations of exons within the gene, formed by splicing… read more here.
Keywords: exon exon; differential splicing; exon junction; incorporating exon ... See more keywords
Cornelia de lange syndrome with thyroid agenesis of an indonesian patient.
Sign Up to like & getrecommendations! Published in 2017 at "Cellular and molecular biology"
DOI: 10.14715/cmb/2017.63.8.19
Abstract: Cornelia de Lange syndrome (CdLs), which is also called Brachmann de Lange syndrome, is a congenital disorder characterized by distinctive facial features, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated… read more here.
Keywords: lange syndrome; indonesian patient; thyroid agenesis; exon exon ... See more keywords
Clinical Profile of Hyper-IgE Syndrome in India
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2021.626593
Abstract: Introduction: Hyper-IgE Syndrome (HIES) is a rare inborn error of immunity (IEI) characterized by a constellation of symptoms related to susceptibility to Staphylococcal skin and pulmonary infections, eczema, raised serum IgE (>2,000 IU/ml), craniofacial anomalies,… read more here.
Keywords: hyper ige; stat3 hies; ige syndrome; exon exon ... See more keywords
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Aging Neuroscience"
DOI: 10.3389/fnagi.2022.948279
Abstract: Purpose Mutation in the USH2A gene is the most common cause of inherited retinal dystrophy (IRD), including non-syndromic retinitis pigmentosa (RP) and Usher syndrome II (USH2). Gene editing and therapy targeting USH2A, especially the hotspot… read more here.
Keywords: exon exon; spectrum ush2a; inherited retinal; gene ... See more keywords