Mov Disord
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Published: October 2017
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http://dx.doi.org/10.1002/mds.27137 | DOI Listing |
Biallelic pathogenic variants in the nebulin ( ) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in . Previously, a mouse model of was developed; however, it presented an uncharacteristically severe phenotype with a near complete reduction in transcript expression that is not observed in exon 55 patients.
View Article and Find Full Text PDFJ Mol Cell Cardiol
January 2025
Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge CB2 1QW, UK. Electronic address:
Introduction: Brugada Syndrome (BrS) is an inherited arrhythmia syndrome characterised by ST-segment elevation in the right precordial ECG leads and is associated with an increased risk of sudden cardiac death. We identify and characterise a novel SCN3B variant encoding the regulatory β3-subunit of the cardiac voltage-gated sodium channel, Na1.5.
View Article and Find Full Text PDFVet Res
January 2025
College of Veterinary Medicine, Jeonbuk National University, Iksan Campus, Iksan, 54596, Republic of Korea.
Fowl typhoid (FT) poses a significant threat to the poultry industry and can cause substantial economic losses, especially in developing regions. Caused by Salmonella Gallinarum (SG), vaccination can prevent FT. However, existing vaccines, like the SG9R strain, have limitations, including residual virulence and potential reversion of pathogenicity.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Pathology, Faculty of Medicine, Damascus University, Damascus, Syria.
Uterine leiomyomas (uLMs) are the most prevalent benign tumors of the female reproductive system. MED12 is one of the mediator complex subunits that has been implicated in uLMs pathogenesis. Somatic mutations in exon2-MED12 have been found in ~ 70% of uLMs.
View Article and Find Full Text PDFLife Sci Alliance
March 2025
Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal
Variants in the hereditary cancer-associated and genes can alter RNA splicing, producing transcripts that encode internally truncated yet potentially functional proteins. However, few studies have quantitatively analyzed variant-specific splicing isoforms. Here, we investigated cells heterozygous and homozygous for the :c.
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