• A new patient with Lowry-Wood syndrome with mild phenotype
• Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene
• Continuous enteral and parenteral feeding each reduces heart rate variability but differentially influences monocyte gene expression in humans
• Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
• Delineating the phenotype of RNU4ATAC-related spliceosomopathy
• Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns
• Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome?
• Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa
• HLA-DRB1 confers increased risk of pediatric-onset MS in children with acquired demyelination
• Human toll-like receptor 4 mutations but not CD14 polymorphisms are associated with an increased risk of gram-negative infections
• In vivo endotoxin synchronizes and suppresses clock gene expression in human peripheral blood leukocytes
• Incidence of acquired demyelination of the CNS in Canadian children
• Influence of the TNF-alpha and TNF-beta polymorphisms upon infectious risk and outcome in surgical intensive care patients
• Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia
• Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
• Masquerades of acquired demyelination in children: experiences of a national demyelinating disease program
• Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination
• Modeling suggests combined-drug treatments for disorders impairing synaptic plasticity via shared signaling pathways
• Modulation of the lipopolysaccharide receptor complex (CD14, TLR4, MD-2) and toll-like receptor 2 in systemic inflammatory response syndrome-positive patients with and without infection: relationship to tolerance
• Multiple epiphyseal dysplasia and Turner syndrome variant (45,XO/46,X ring) associated with advanced maternal age
• Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome?
• Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?
• Multivariate analysis of 9 disease-associated variables for outcome prediction in patients with sepsis
• Neutralization of TNF does not influence endotoxininduced changes in thyroid hormone metabolism in humans
• New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients
• Recovery From Central Nervous System Acute Demyelination in Children
• RNU4atac-opathy
• Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus
• Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome
• The effects of glucocorticoid therapy on inflammatory responses to coronary artery bypass graft surgery
• The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
• The Grant syndrome. Persistent Wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia--an autosomal dominant trait
• The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome
• The stressed host response to infection: the disruptive signals and rhythms of systemic inflammation