Case report: Second report of neuromuscular syndrome caused by biallelic variants in .

Introduction: Activating Signal Cointegrator 1 Complex, Subunit 3 () has been implicated in the pathogenesis of neurodevelopmental disorders and neuromuscular diseases (MIM: 620700). This paper analyzes the clinical manifestations of three patients with developmental delay caused by genetic variation. Additionally, we discuss the previously reported clinical features of these patients along with our own findings, thereby enhancing our understanding of these genetic disorders and providing valuable insights into diagnosis, treatment, and potential interventions for affected individuals.

Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by mutations.

Background: Snijders Blok-Campeau syndrome (SNIBCPS) is a rare genetic disorder characterized by facial abnormalities, hypotonia, macrocephaly, and global developmental delay (GDD) caused by mutations in gene. There is limited information on SNIBCPS and few studies on its pathogenic gene .

Methods: We utilized whole-exome sequencing, minigene splicing assay analysis, and construction of protein models to validate the suspected pathogenic mutation.

Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports.

Background: The gene is instrumental in human intelligence and nerve development. Mutations in the gene have been linked in recent studies to neurodevelopmental disorders, seizures, and language delay.

Case Summary: This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation, epilepsy, and language delay resulting from a new mutation in the gene.

eccDB: a comprehensive repository for eccDNA-mediated chromatin contacts in multi-species.

Summary: We developed the eccDB database to integrate available resources for extrachromosomal circular DNA (eccDNA) data. eccDB is a comprehensive repository for storing, browsing, searching, and analyzing eccDNAs from multispecies. The database provides regulatory and epigenetic information on eccDNAs, with a focus on analyzing intrachromosomal and interchromosomal interactions to predict their transcriptional regulatory functions.

CATA: a comprehensive chromatin accessibility database for cancer.

Accessible chromatin refers to the active regions of a chromosome that are bound by many transcription factors (TFs). Changes in chromatin accessibility play a critical role in tumorigenesis. With the emergence of novel methods like Assay for Transposase-accessible Chromatin Sequencing, a sequencing method that maps chromatin-accessible regions (CARs) and enables the computational analysis of TF binding at chromatin-accessible sites, the regulatory landscape in cancer can be dissected.