Results 111 to 120 of about 325,490 (342)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Crosstalk between ubiquitination and translation in neurodevelopmental disorders
Frontiers in Molecular NeuroscienceUbiquitination is one of the most conserved post-translational modifications and together with mRNA translation contributes to cellular protein homeostasis (proteostasis).
Nagore Elu +5 more
doaj +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Asian Journal of Andrology, 2015 One of the most common lesions present in the spermatozoa of human infertility patients is an idiopathic failure of sperm-egg recognition. Although this unique cellular interaction can now be readily by-passed by assisted reproductive strategies such as ...
Brett Nixon +5 more
doaj +1 more source
Get Spliced: Uniting Alternative Splicing and Arthritis
International Journal of Molecular SciencesImmune responses demand the rapid and precise regulation of gene protein expression. Splicing is a crucial step in this process; ~95% of protein-coding gene transcripts are spliced during mRNA maturation. Alternative splicing allows for distinct functional regulation, as it can affect transcript degradation and can lead to alternative functional ...
Maurice J. H. van Haaren +4 more
openaire +3 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang +11 more
wiley +1 more source
Advanced Biology, EarlyView.The axolotl's remarkable regenerative abilities decline with age, the causes may include the numerous repetitive elements within its genome. This study uncovers how Ty3 retrotransposons and coexpression networks involving muscle and immune pathways respond to aging and regeneration, suggesting that transposons respond to physiological shifts and may ...
Samuel Ruiz‐Pérez +8 more
wiley +1 more source
Splicing systems and the Chomsky hierarchy [PDF]
arXiv, 2011 In this paper, we prove decidability properties and new results on the position of the family of languages generated by (circular) splicing systems within the Chomsky hierarchy. The two main results of the paper are the following. First, we show that it is decidable, given a circular splicing language and a regular language, whether they are equal ...
arxiv
Advanced Engineering Materials, EarlyView.Molecular dynamics simulations are advancing the study of ribonucleic acid (RNA) and RNA‐conjugated molecules. These developments include improvements in force fields, long‐timescale dynamics, and coarse‐grained models, addressing limitations and refining methods.
Kanchan Yadav, Iksoo Jang, Jong Bum Lee
wiley +1 more source