Background Idiopathic membranous nephropathy is a major cause of the nephrotic
syndrome in adults, but its etiologic basis is not fully understood. We investigated the genetic …

Background Five children from two consanguineous families presented with epilepsy
beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt …

Irreversible blindness caused by loss of photoreceptors may be amenable to cell therapy.
We previously demonstrated retinal repair and restoration of vision through transplantation …

Due to the spread of resistance, antibiotic exposure receives increasing attention. Ecological
consequences for the different niches of individual microbiomes are, however, largely …

Background Clinical interpretation of the large number of rare variants identified by high
throughput sequencing (HTS) technologies is challenging. The aim of this study was to …

Type I interferon (IFN-α/β) is a fundamental antiviral defense mechanism. Mouse models
have been pivotal to understanding the role of IFN-α/β in immunity, although validation of …

Abstract Background. An 18-month-old boy developed encephalopathy, for which extensive
investigation failed to identify an etiology, 6 weeks after stem cell transplant. To exclude a …

Three eukaryotic DNA polymerases are essential for genome replication. Polymerase (Pol)
α–primase initiates each synthesis event and is rapidly replaced by processive DNA …

Objective Patients with systemic juvenile idiopathic arthritis (JIA) have arthritis, quotidian
fevers, and other extraarticular features. This disease often remains severe and debilitating …

Objective A predictable relation between genotype and disease expression is needed in
order to use genetic testing for clinical decision-making in hypertrophic cardiomyopathy …