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Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.
Front Genet
December 2024
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
View Article and Find Full Text PDFIdentification of Novel Nexilin Splice Variants in Mouse and Human Tissues.
Cells
December 2024
Institute of Biochemistry II, Jena University Hospital, Friedrich Schiller University Jena, Nonnenplan 2-4, 07743 Jena, Germany.
There is no doubt that the proper development of the heart is important for its correct function, in addition, maturation processes of the heart are crucial as well. The actin-binding protein nexilin seems to take over central roles in the latter processes, as nexilin-deficient mice are phenotypically inconspicuous at birth but die within short time thereafter. Recently, it has been proposed that nexilin plays a role in the formation and function of transverse tubules (T-tubules), which are essential for excitation-contraction coupling in the hearts of mature animals.
View Article and Find Full Text PDFMechanism and function of CEACAM1 splice isoforms.
Eur J Clin Invest
December 2024
Department of Surgery, University of California Los Angeles, Los Angeles, California, USA.
Background: Alternative splicing is a fundamental mechanism in the post-transcriptional regulation of genes. The multifunctional transmembrane glycoprotein receptor carcinoembryonic antigen-related cell adhesion molecule 1 (CEACAM1) undergoes extensive alternative splicing to allow for tunable functions in cell signalling, adhesion and modulation of immune and metabolic responses. Splice isoforms that differ in their ectodomain and short or long cytoplasmic tail (CEACAM1-S/CEACAM1-L) have distinct functional roles.
View Article and Find Full Text PDFDevelopment and validation of a one-step assay for genetic testing in spinal muscular atrophy MALDI-TOF MS.
Analyst
December 2024
Department of Clinical Pharmacy, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
Spinal muscular atrophy (SMA) is a fatal neuromuscular disorder primarily attributed to the homozygous deletion of the survival motor neuron 1 () gene, with disease severity closely correlated to the copy number variations (CNV) of . Conventional methodologies, however, fail to provide a comprehensive gene overview of and are often both time-intensive and costly. In this study, we present a novel one-step MALDI-TOF MS assay for SMA gene testing.
View Article and Find Full Text PDFGeneration of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene.
Hum Cell
October 2024
The Institute of Cytology, Russian Academy of Sciences, Saint-Petersburg, 194064, Russia.
Article Synopsis
- - The study focuses on correcting mutations in the CASR gene, which is crucial for regulating calcium levels in the body, specifically targeting mutations linked to a severe condition called neonatal primary hyperparathyroidism.
- - Researchers generated a CRISPR/Cas9 edited human induced pluripotent stem cell (hiPSC) line that successfully restored one of the mutations while preserving another, showing normal characteristics such as cell structure and growth potential.
- - The newly created hiPSC line will be used as a valuable resource for understanding calcium regulation disorders and exploring personalized medicine approaches to treat these conditions in the future.
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