ARTICLE | doi:10.20944/preprints202003.0147.v1
Subject: Environmental And Earth Sciences, Water Science And Technology Keywords: Golden Triangle Energy Region; water resources; optical allocation
Online: 9 March 2020 (02:34:59 CET)
There are abundant coal, oil and natural gas resources in "Golden Triangle" energy region. Energy resources development, coal chemical industry, coal power and other industries play an important role in promoting regional economic growth, but facing the insufficient water supply. Under the condition of marginal equilibrium of water resources, the paper firstly analyzes the water utilization, and calculates the potential water-saving amount. Then, the paper constructs a cooperative game model and allocates the newly increased GDP by using the weight distribution method. Finally, the paper puts forward some policy suggestions to reduce the efficiency gap of water utilization among regions.
ARTICLE | doi:10.20944/preprints201609.0024.v1
Subject: Medicine And Pharmacology, Neuroscience And Neurology Keywords: neurofibromatosis type 1; congenital pseudarthrosis of the tibia; whole-exome sequencing; targeted sequencing; BCOR
Online: 7 September 2016 (11:19:00 CEST)
Neurofibromatosis type1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1gene. Although congenital pseudarthrosis of the tibia (CPT) has frequently been associated with NF1, the underlying molecular mechanism of CPT in these NF1 patients is yet ill-understood. The aim of the present study was to detect NF1 mutations from genomic DNA and to harbor variants associated with CPT in NF1 patients. Whole-exome sequencing was first carried out with samples from two patients with CPT in one NF1 family, and a novel mutation c.2324A>G (p.E775G) in NF1 gene was identified. Additionally, a missense variant c.455C>T (p.P152L) in BCOR gene completely co-segregated with the CPT phenotype within this family. Subsequently, NF1 and NF2 genes in four other unrelated patients with both NF1 and CPT were screened using targeted sequencing. Four mutations in NF1 gene, including two known mutations (c.2288T>C/p.L763P, c.574 C>T/p.R192*) and two novel mutations (c.768delT/p.F256Lfs*25, c.2229_2230delTG/ p.V744Qfs*23) were detected. Further study confirmed that CPT was present in NF1 families, and NF1 mutations were closely associated with these complex phenotypes. Moreover, the data from the current study indicated that male gender might be a susceptibility factor for CPT in NF1. Therefore, we speculated that BCOR variants might be related to CPT phenotype among male NF1 patients.