Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV

Breaking the bounds British feminist dramatists writing in the mainstream since c. 1980

SIGLEAvailable from British Library Document Supply Centre-DSC:DN048283 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

ABSTRACT The Second-generation Processor Module for AlphaServer 2100 Systems

systems performs significantly better than the first-generation KN460 module and was designed to be swap-compatible as an upgrade. The KN470 processor module derives its performance improvements from the enhanced architecture of Digital's new Alpha 21164 microprocessor, the synchronous design of the third-level cache and system interface, the implementation of a duplicate tag of the third-level cache, and the implementation of a write-invalidate cache coherence protocol for the multiprocessor system bus. Additional design features such as read-miss pipelining, system bus grant parking, hidden coherence transactions to the duplicate tag, and Alpha 21164 microprocessor write transactions to the system bus back-off and replay were combined to produce a higher performance processor module. The scope of the project required implementing functionality in system components such as the memory, the backplane, the system bus arbiter, and the I/O bridge, which shipped one year ahead of the KN470 module

Quantification of In Vitro and In Vivo Cryptosporidium parvum Infection by Using Real-Time PCR

Established methods for quantifying experimental Cryptosporidium infection are highly variable and subjective. We describe a new technique using quantitative real-time PCR (qPCR) that can be used to measure in vitro and in vivo laboratory infections with Cryptosporidium. We show for the first time that qPCR permits absolute quantification of the parasite while simultaneously controlling for the amount of host tissue and correlates significantly with established methods of quantification in in vitro and in vivo laboratory models of infection

Introduction

Sharing with previous criticism an uneasiness with the use of the umbrella term ‘black’ for communities as diverse as the African, the African-Caribbean, and the black British, this introduction argues for the need to examine the increasingly visible African presence on the contemporary London stage independently from other BME theatrical productions. Chapters and interviews in this collection are contextualised on the background of previous criticism (with particular reference to black British theatre studies) and the history of African artists and companies on the London stage