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A Common Pathomechanism in GMAP-210- and LBR-related Diseases
Abstract: Biallelic loss-of-function mutations in TRIP11, encoding the golgin GMAP-210, cause the lethal human chondrodysplasia achondrogenesis 1A (ACG1A). We now find that a homozygous splice-site mutation of the lamin B receptor (LBR) gene results in the same phenotype. Intrigued by the genetic heterogeneity, we compared GMAP-210- and LBR-deficient primary cells to unravel how particular mutations in LBR cause a phenocopy of ACG1A. We could exclude a regulatory interaction between LBR and GMAP-210 in patients' cells. However, we discovered a common disruption of Golgi apparatus architecture that was accompanied by decreased secretory trafficking in both cases. Deficiency of Golgi-dependent glycan processing indicated a similar downstream effect of the disease-causing mutations upon Golgi function. Unexpectedly, our results thus point to a common pathogenic mechanism in GMAP-210- and LBR-related diseases attributable to defective secretory trafficking at the Golgi apparatus
Meta-analysis Uncovers Genome-wide Significant Variants for Rapid Kidney Function Decline
Abstract: Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m2/year or more ("Rapid3"; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m2 at follow-up among those with eGFRcrea ...
Hydroponic Food Production
This book is a comprehensive and practical guide to soilless growing. It is known as the Bible of the industry. It is a methods book in that it provides detailed information on how to design, set up and operate hydroponic culture systems. It also describes the most successful cultures to use with specific crops. Hydroponic Food Production provides an immediatereference for those who are presently growing hydroponically as well as a guidebook to get prospective growers started. The sixth edition contains 450 photographs, drawings and tables. It has directories, addresses, references, bibliography and a complete index.
Official Directory
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Crossroads
An array of leading Democrats, Republicans, and independent thinkers provide a road map for America's political future. America is at a turning point. For the first time in history, the United States is the world's lone superpower--in Andrew Cuomo's words, "both the tamer and target of an unstable world." New technology and the omnipresent media have transformed the way we do everything, from amassing wealth to practicing politics. Simultaneously, the U.S. economy is in a shambles, with the largest federal budget deficit in our history. The coming octogenarian boom promises to put the greatest strain on federal government resources the United States has ever known, and America is faced with ...
Reformatio Baltica
Die in vorliegendem Band versammelten Forschungsbeiträge erkunden die vielfältigen Kulturwirkungen der Reformation in den städtischen Zentren am mare balticum und leisten wichtige Beiträge zur komparatistischen Metropolenforschung, zur historischen Kulturtransferforschung, zur Mediengeschichte des reformatorischen Erbes und zur Rekonfiguration der Reformationstheorie des Ostseeraums. In den Blick genommen werden diejenigen Städte im Ostseeraum, die aufgrund ihrer politischen, ökonomischen und geistig-kulturellen Relevanz im Laufe des 16. bis 18. Jahrhunderts Metropolfunktionen besaßen bzw. zunehmend erlangten. Gefragt wird nach den Faktoren, die diese Metropolenbildungen begünstigten, den Formen und Wegen kultureller Transfers im Ostseeraum – und dies jeweils vor dem Hintergrund der heterogenen Wirkungen, welche die Reformation rund um die Ostsee in den städtischen Kulturen zeitigte. Sozial-, wirtschafts-, literatur-, theologie- und frömmigkeitshistorische Aspekte sind genauso berücksichtigt wie die Kunst-, Architektur-, Musik- und Bibliotheksgeschichte.
The Tools of Government in the Digital Age
This important new work updates the arguments of Christopher Hood's classic work The Tools of Government for the Twenty-First century. Comprehensively revised throughout, it includes increased coverage of how government gets information and an assessment of how the tools available to government have changed over time.
