Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti 3/5, 20133 Milan, Italy.
Published: June 2004
AI Article Synopsis
Article Abstract
Mutations responsible for autosomal dominant nocturnal frontal lobe epilepsy have been identified in two members of the neuronal nicotinic acetylcholine receptor gene family: CHRNA4(ENFL1 locus) and CHRNB2 (ENFL3 locus) coding for alpha4 and beta2 subunit, respectively. However, mutations in these genes account for only a minority (less than 10%) of cases. For a third ADNFLE locus (ENFL2) on chromosome 15q24 the gene was not identified. The involvement of the three loci in the pathogenesis of ADNFLE was investigated in 12 unrelated Italian families, selected on the basis of anamnestic and video-polysomnographic data. Compliant family members were typed for polymorphic markers spanning the analyzed chromosome regions. Linkage analyses excluded association of all chromosome regions with ADNFLE in 72% of cases. In two, four and one families it was impossible to ascertain or exclude association with ENFL1, ENFL2, or ENFL3, respectively, however, no mutations have been detected in the nicotinic receptor genes located in these regions. These data strongly suggest that ENFL1, ENFL2 and ENFL3 are minor loci for the disease and point to the existence of at least a fourth locus for ADNFLE.
Unlabelled: is an important human pathogen that normally resides in the human nasopharynx. Competence-mediated bacteriocin expression by plays a major role in both the establishment and persistence of colonization on this polymicrobial surface. Over 20 distinct bacteriocin loci have been identified in pneumococcal genomes, but only a small number have been characterized phenotypically.
Department of General Intensive Care Unit and Department of Biochemistry of the Second Affiliated Hospital, Liangzhu Laboratory, Zhejiang University School of Medicine, Hangzhou, China.
The histone locus body (HLB) is a membraneless organelle that determines the transcription of replication-dependent histones. However, the mechanisms underlying the appropriate formation of the HLB in the nucleus but not in the cytoplasm remain unknown. HLB formation is dependent on the scaffold protein NPAT.
Midazolam is a medication with hypnotic and sedative effects, important for various clinical uses, but its exact action on consciousness is not fully understood.
Research using advanced techniques like pharmacology and optogenetics has identified the locus coeruleus-ventrolateral preoptic nucleus noradrenergic neural circuit as key to how midazolam affects consciousness, particularly through α1 adrenergic receptors.
The study highlights the GABAA receptor as a critical site for midazolam's action, offering new insights that could improve understanding and management of consciousness recovery in medical settings.
Background: Coffin-Siris syndrome is a clinically elusive and rare genetic disease characterized by a wide range of clinical manifestations. This study deeply analyzed and identified the clinical phenotype and genetic variant location in a pediatric patient with Coffin-Siris syndrome, aiming to enhance the understanding of this syndrome and assist in its screening and diagnosis.
Methods: A combination of advanced diagnostic tools, including high-throughput whole-exome sequencing (WES) and first-generation sequencing technologies, was employed to ascertain the etiology of the disease in the child.
Background: Short tandem repeat (STR) markers are widely used in forensic DNA analysis due to their ability to provide automated and standardised typing. However, incorrect STR typing can have a significant impact on forensic outcomes.
Aim: In this study, we detected drop-out alleles at the SE33 locus in a putative father-son pair using the Microreader 28 A ID System.
