12 research outputs found
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Expert survey and classification of tools for modeling and simulating hybrid energy networks
Sector coupling is expected to play a key role in the decarbonization of the energy system by enabling the integration of decentralized renewable energy sources and unlocking hitherto unused synergies between generation, storage and consumption. Within this context, a transition towards hybrid energy networks (HENs), which couple power, heating/cooling and gas grids, is a necessary requirement to implement sector coupling on a large scale. However, this transition poses practical challenges, because the traditional domain-specific approaches struggle to cover all aspects of HENs. Methods and tools for conceptualization, system planning and design as well as system operation support exist for all involved domains, but their adaption or extension beyond the domain they were originally intended for is still a matter of research and development. Therefore, this work presents innovative tools for modeling and simulating HENs. A categorization of these tools is performed based on a clustering of their most relevant features. It is shown that this categorization has a strong correlation with the results of an independently carried out expert review of potential application areas. This good agreement is a strong indicator that the proposed classification categories can successfully capture and characterize the most important features of tools for HENs. Furthermore, it allows to provide a guideline for early adopters to understand which tools and methods best fit the requirements of their specific applications
Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27
Split-hand/split-foot malformation (SHFM), a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals, is phenotypically analogous to the naturally occurring murine Dactylaplasia mutant (Dac). Results of recent studies have shown that, in heterozygous Dac embryos, the central segment of the apical ectodermal ridge (AER) degenerates, leaving the anterior and posterior segments intact; this finding suggests that localized failure of ridge maintenance activity is the fundamental developmental defect in Dac and, by inference, in SHFM. Results of gene-targeting studies have demonstrated that p63, a homologue of the cell-cycle regulator TP53, plays a critically important role in regulation of the formation and differentiation of the AER. Two missense mutations, 724A→G, which predicts amino acid substitution K194E, and 982T→C, which predicts amino acid substitution R280C, were identified in exons 5 and 7, respectively, of the p63 gene in two families with SHFM. Two additional mutations (279R→H and 304R→Q) were identified in families with EEC (ectrodactyly, ectodermal dysplasia, and facial cleft) syndrome. All four mutations are found in exons that fall within the DNA-binding domain of p63. The two amino acids mutated in the families with SHFM appear to be primarily involved in maintenance of the overall structure of the domain, in contrast to the p63 mutations responsible for EEC syndrome, which reside in amino acid residues that directly interact with the DNA
Genome of Tenualosa ilisha from the river Padma, Bangladesh
Abstract Objective Hilsa shad (Tenualosa ilisha), is a popular fish of Bangladesh belonging to the Clupeidae family. An anadromous species, like the salmon and many other migratory fish, it is a unique species that lives in the sea and travels to freshwater rivers for spawning. During its entire life, Tenualosa ilisha migrates both from sea to freshwater and vice versa. Data description The genome of Tenualosa ilisha collected from the river Padma of Rajshahi, Bangladesh has been sequenced and its de novo hybrid assembly and structural annotations are being reported here. Illumina and PacBio sequencing platforms were used for high depth sequencing and the draft genome assembly was found to be 816Â MB with N50 size of 188Â kb. MAKER gene annotation tool predicted 31,254 gene models. Benchmarking Universal Single-Copy Orthologs refer 95% completeness of the assembled genome
No association between the putative functional ZDHHC8 single nucleotide polymorphism rs175174 and schizophrenia in large European samples
BACKGROUND: It has been recently reported that a functional variant in the ZDHHC8 gene encoding a putative palmitoyltransferase directly confers susceptibility to schizophrenia in females (). METHODS: We investigated the putative risk allele (rs175174) in four schizophrenia association samples including a Bulgarian proband and parent sample (474 trios) and three case-control panels of European origin (1028 patients/1253 control subjects) in an attempt to replicate these findings. RESULTS: Our results do not support the hypothesis that genetic variation at rs175174 is associated with increased risk for schizophrenia nor do they suggest the presence of gender-specific differences. CONCLUSIONS: Our data suggest that the reported genetic association by either represents type I error resulting from sampling variance or that rs175174 is in linkage disequilibrium (LD) with the functional variant for schizophrenia and different LD patterns obscure the detection of association
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1):additional support for functional haploinsufficiency as the causative mechanism
We report on three patients with split hand/foot malformation type 1 (SHFM1). We detected a deletion in two patients and an inversion in the third, all involving chromosome 7q21q22. We performed conventional chromosomal analysis, array comparative genomic hybridization and fluorescence in situ hybridization. Both deletions included the known genes associated with SHFM1 (DLX5, DLX6 and DSS1), whereas in the third patient one of the inversion break points was located just centromeric to these genes. These observations confirm that haploinsufficiency due to either a simultaneous deletion of these genes or combined downregulation of gene expression due to a disruption in the region between these genes and a control element could be the cause of the syndrome. We review previously reported studies that support this hypothetical mechanism