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| http://dx.doi.org/10.1136/jmg.2004.020040 | DOI Listing |
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Retinal Phenotypes and Single-cell Sequencing Analysis of Ush2a Knockout Mice.
Exp Eye Res
January 2025
Shenzhen Eye Hospital, Jinan University, Shenzhen Eye Institute, Shenzhen, 518040 Guangdong, China. Electronic address:
Usher syndrome is a rare autosomal recessive genetic disorder that primarily affects both vision and hearing, manifesting as sensorineural hearing loss and progressive vision loss caused by retinitis pigmentosa. The pathogenesis of retinal degeneration in Usher syndrome is still largely unknown. In this study, a novel Ush2a knockout mouse model was successfully constructed using CRISPR/Cas9 technology.
View Article and Find Full Text PDFNaxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments.
View Article and Find Full Text PDFBrCYP71 mutation resulted in stay-green in pak choi (Brassica rapa L. ssp. chinensis).
Theor Appl Genet
January 2025
College of Horticulture, Shenyang Agricultural University, Shenyang, 110866, People's Republic of China.
BrCYP71 encoding multifunctional oxidase was mapped using BSA-Seq and linkage analysis, and its function in stay-green of pak choi was verified through Arabidopsis heterologous transgenic experiment. Stay-green refers to the phenomenon that plant leaves remain green during senescence and even after death, which is of great significance for improving the commerciality of leafy vegetables during storage or transportation and extending their shelf life. In this study, we identified a stay-green mutant of pak choi and named it nye2.
View Article and Find Full Text PDFBackground: Christianson syndrome (CS) is an x-linked recessive neurodevelopmental and neurodegenerative condition characterized by severe intellectual disability, cerebellar degeneration, ataxia, and epilepsy. Mutations to the gene encoding NHE6 are responsible for CS, and we recently demonstrated that a mutation to the rat gene causes a similar phenotype in the spontaneous rat model, which exhibits cerebellar degeneration with motor dysfunction. In previous work, we used the PhP.
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