Context: Causal mutations have been detected only in a minority of isolated GH deficiency (IGHD) patients. Idiopathic IGHD might be the result of the interaction between several low-penetrance ...genetic factors and the environment.
Objective: The aim of this study was to test the contribution to IGHD of genetic variations in the GH1 gene regulatory regions.
Design and Patients: A case-control association study was performed including 118 sporadic IGHD patients with a nonsevere phenotype (height −4/−1 sd score and partial GH deficiency) and two control groups, normal stature (n = 200) and short-stature individuals with normal GH secretion (n = 113). Seven single-nucleotide polymorphisms in the GH1 promoter, one in the IVS4 region, and two in the locus control region were analyzed.
Results: The −57T allele within the vitamin D-responsive element showed a positive significant association when comparing patients with normal (P = 0.006) or short stature (P = 0.0011) controls. The genotype −57TT showed an odds ratio of 2.93 (1.44–5.99) and 2.99 (1.42–6.31), respectively. The functional relevance of the −57 variation was demonstrated by the luciferase assay in the presence of vitamin D. The vitamin D-induced inhibition of luciferase activity was significantly (P = 0.012) stronger for the promoter haplotype carrying the associated variation −57T haplotype #1 (hp#1) with respect to hp#2, bearing −57G. Replacement of the T with a G at −57 on hp#1 abolished the repression, demonstrating that the T at position −57 is necessary to determine the greater vitamin D-induced inhibitory effect of hp#1. EMSA experiments showed a different band-shift pattern of the T and G sequences.
Conclusion: The common −57G→T polymorphism contributes to IGHD susceptibility, indicating that it may have a multifactorial etiology.
HEPCloud is rapidly becoming the primary system for provisioning compute resources for all Fermilab-affiliated experiments. In order to reliably meet the peak demands of the next generation of High ...Energy Physics experiments, Fermilab must plan to elastically expand its computational capabilities to cover the forecasted need. Commercial cloud and allocation-based High Performance Computing (HPC) resources both have explicit and implicit costs that must be considered when deciding when to provision these resources, and at which scale. In order to support such provisioning in a manner consistent with organizational business rules and budget constraints, we have developed a modular intelligent decision support system (IDSS) to aid in the automatic provisioning of resources spanning multiple cloud providers, multiple HPC centers, and grid computing federations. In this paper, we discuss the goals and architecture of the HEPCloud Facility, the architecture of the IDSS, and our early experience in using the IDSS for automated facility expansion both at Fermi and Brookhaven National Laboratory.
The next generation of High Energy Physics experiments are expected to generate exabytes of data---two orders of magnitude greater than the current generation. In order to reliably meet peak demands, ...facilities must either plan to provision enough resources to cover the forecasted need, or find ways to elastically expand their computational capabilities. Commercial cloud and allocation-based High Performance Computing (HPC) resources both have explicit and implicit costs that must be considered when deciding when to provision these resources, and to choose an appropriate scale. In order to support such provisioning in a manner consistent with organizational business rules and budget constraints, we have developed a modular intelligent decision support system (IDSS) to aid in the automatic provisioning of resources---spanning multiple cloud providers, multiple HPC centers, and grid computing federations.
Historically, high energy physics computing has been performed on large purpose-built computing systems. These began as single-site compute facilities, but have evolved into the distributed computing ...grids used today. Recently, there has been an exponential increase in the capacity and capability of commercial clouds. Cloud resources are highly virtualized and intended to be able to be flexibly deployed for a variety of computing tasks. There is a growing nterest among the cloud providers to demonstrate the capability to perform large-scale scientific computing. In this paper, we discuss results from the CMS experiment using the Fermilab HEPCloud facility, which utilized both local Fermilab resources and virtual machines in the Amazon Web Services Elastic Compute Cloud. We discuss the planning, technical challenges, and lessons learned involved in performing physics workflows on a large-scale set of virtualized resources. In addition, we will discuss the economics and operational efficiencies when executing workflows both in the cloud and on dedicated resources.
The QualiRedFruits project is co-funded by the European Commission under the 7th Framework Programme. It brings together 7 SMEs and 5 universities and research centers, and deals with the ...competitiveness of raspberry production and market. The aims of the project are to create a new market of raspberry with higher quality and to improve the already existing one. The strategy is to develop innovative cultural practices respectful of the environment – natural plant defense elicitor treatment and biotisation with beneficial microorganisms including arbuscular mycorrhizal fungi (AMF) – and identifying raspberry varieties with higher AOM content. Molecular markers are being developed for the identification of beneficial microorganisms and for the assessment of plant sanitary status. A cryo-preservation protocol is being developed for germplasm long-term conservation of varieties with higher quality. These approaches are being tested from in vitro culture to the field. Finally, recommendations for quality production of raspberry to SMEs will be drawn.
The QualiRedFruits project is co-funded by the European Commission under the 7th Framework Programme. It brings together 7 SMEs and 5 universities and research centers, and deals with the ...competitiveness of raspberry production and market. The aims of the project are to create a new market of raspberry with higher quality and to improve the already existing one. The strategy is to develop innovative cultural practices respectful of the environment – natural plant defense elicitor treatment and biotisation with beneficial microorganisms including arbuscular mycorrhizal fungi (AMF) – and identifying raspberry varieties with higher AOM content. Molecular markers are being developed for the identification of beneficial microorganisms and for the assessment of plant sanitary status. A cryo-preservation protocol is being developed for germplasm long-term conservation of varieties with higher quality. These approaches are being tested from in vitro culture to the field. Finally, recommendations for quality production of raspberry to SMEs will be drawn.
The QualiRedFruits project is co-funded by the European Commission under the 7th Framework Programme. It brings together 7 SMEs and 5 universities and research centers, and deals with the ...competitiveness of raspberry production and market. The aims of the project are to create a new market of raspberry with higher quality and to improve the already existing one. The strategy is to develop innovative cultural practices respectful of the environment – natural plant defense elicitor treatment and biotisation with beneficial microorganisms including arbuscular mycorrhizal fungi (AMF) – and identifying raspberry varieties with higher AOM content. Molecular markers are being developed for the identification of beneficial microorganisms and for the assessment of plant sanitary status. A cryo-preservation protocol is being developed for germplasm long-term conservation of varieties with higher quality. These approaches are being tested from in vitro culture to the field. Finally, recommendations for quality production of raspberry to SMEs will be drawn.
The QualiRedFruits project is co-funded by the European Commission under the 7th Framework Programme. It brings together 7 SMEs and 5 universities and research centers, and deals with the ...competitiveness of raspberry production and market. The aims of the project are to create a new market of raspberry with higher quality and to improve the already existing one. The strategy is to develop innovative cultural practices respectful of the environment – natural plant defense elicitor treatment and biotisation with beneficial microorganisms including arbuscular mycorrhizal fungi (AMF) – and identifying raspberry varieties with higher AOM content. Molecular markers are being developed for the identification of beneficial microorganisms and for the assessment of plant sanitary status. A cryo-preservation protocol is being developed for germplasm long-term conservation of varieties with higher quality. These approaches are being tested from in vitro culture to the field. Finally, recommendations for quality production of raspberry to SMEs will be drawn.
The QualiRedFruits project is co-funded by the European Commission under the 7th Framework Programme. It brings together 7 SMEs and 5 universities and research centers, and deals with the ...competitiveness of raspberry production and market. The aims of the project are to create a new market of raspberry with higher quality and to improve the already existing one. The strategy is to develop innovative cultural practices respectful of the environment – natural plant defense elicitor treatment and biotisation with beneficial microorganisms including arbuscular mycorrhizal fungi (AMF) – and identifying raspberry varieties with higher AOM content. Molecular markers are being developed for the identification of beneficial microorganisms and for the assessment of plant sanitary status. A cryo-preservation protocol is being developed for germplasm long-term conservation of varieties with higher quality. These approaches are being tested from in vitro culture to the field. Finally, recommendations for quality production of raspberry to SMEs will be drawn.
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