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https://www.readbyqxmd.com/read/27922245/a-novel-mutation-in-a-case-of-pseudohypoparathyroidism-type-ia
#1
Birgül Kırel, Meliha Demiral, Özkan Bozdağ, Kadri Karaer
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 months of age. His calcium level remained within normal levels after vitamin D treatment, but, elevated PTH and ALP levels and normal-high phosphate levels persisted during his follow-up by age of 2...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922244/a-novel-de-novo-mutation-involving-the-mll2-gene-in-a-kabuki-syndrome-patient-presenting-with-seizures
#2
Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C > T [p.Gln4322*] ) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922196/hiv-prevalence-and-phylogenetic-characteristics-among-entry-travelers-in-xishuangbanna-prefecture-yunnan-province-between-2003-and-2012
#3
Binghui Wang, Yaobo Liang, Yajuan Wang, Yue Feng, Yaping Li, Li Zhang, Qicai Xuan, Jing Miao, Weihong Qin, Xueshan Xia
Xishuangbanna is a popular tourist destination in southern Yunnan Province, bordering with Vietnam and Laos and Myanmar. There are more than 2 million cross-border travelers annually entering China at two land ports, Daluo and Mohan. To clarify the characteristics of HIV-1 prevalence among entry travelers, a retrospective epidemic investigation was conducted. Between 2003 and 2012, 196 among 91,432 entry travelers were detected to be HIV-1-positive, accounting for infection rate of 0.21%. Eighty-one gag-pol gene sequences were obtained for phylogenetic analyses and subsequent recombination analysis...
December 6, 2016: Journal of Medical Virology
https://www.readbyqxmd.com/read/27922189/optimal-arac-cytotoxicity-to-aml-cells-requires-erk5-activity
#4
Ruifang Zheng, George P Studzinski
Cytarabine (AraC) has been the primary treatment agent for Acute Myeloid Leukemia (AML) in the past 30 years, but the precise mechanism of its action is not completely known. Here we assessed the role of ERK5 in AraC-induced cell death in AML cell lines HL60 and U937 using ERK5 inhibitors BIX02189 and XMD8-92. We report that inhibition of MEK5/ERK5 activity reduces AraC-induced cell death, DNA damage, the upregulated DNA damage biomarkers, and produced G2 phase cell cycle arrest. In addition, the pro-survival protein P-Bcl2 Ser70 was found to be associated with decreased AraC-induced cell death following XMD8-92 treatment, suggesting a regulatory role of ERK5 on Bcl2 phosphorylation...
December 6, 2016: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/27922182/retinoid-derivative-tp80-exhibits-anti-hepatitis-c-virus-activity-through-restoration-of-gi-gpx-expression
#5
Nguyen Bao Ngoc, Yukiko Okuno, Masahiko Ajiro, Kei Iida, Masatsugu Denawa, Makoto Yamamoto, Naoya Sakamoto, Hiroyuki Kagechika, Masatoshi Hagiwara
Hepatitis C virus (HCV) is a positive-sense single-stranded RNA virus with an estimated infection in ∼180 million people worldwide, and its chronic infection leads to development of cirrhosis and hepatocellular carcinoma. Although recent development of direct acting antiviral (DAA) compounds improved anti-HCV regimens, alternative therapeutic compounds are still demanded due to an expected emergence of escape mutants for those DAAs. In order to identify novel anti-HCV agents, we conducted chemical library screening for 2,086 compounds using HCV Rep-Feo reporter replicon in Huh7 hepatoma cells...
December 6, 2016: Journal of Medical Virology
https://www.readbyqxmd.com/read/27922138/mitomycin-c-treated-human-induced-pluripotent-stem-cells-as-a-safe-delivery-system-of-gold-nanorods-for-targeted-photothermal-therapy-of-gastric-cancer
#6
Meng Yang, Yanlei Liu, Wenxiu Hou, Xiao Zhi, Chunlei Zhang, Xinquan Jiang, Fei Pan, Yuming Yang, Jian Ni, Daxiang Cui
Human-induced pluripotent stem cells (iPS) possess an intrinsic tumor tropism ability. However, iPS cells are impeded in clinical applications of tumor therapy due to the formation of teratomas and their survival in normal organs such as the liver, lungs, spleen and kidneys. Mitomycin C (MMC) can overcome this limitation by suppressing iPS proliferation. Herein, we fabricated a safe delivery system of iPS cells treated with MMC loading with gold nanorods (AuNRs) for the targeted photothermal treatment of gastric cancer...
December 6, 2016: Nanoscale
https://www.readbyqxmd.com/read/27922125/an-er%C3%AE-agonist-induces-browning-of-subcutaneous-abdominal-fat-pad-in-obese-female-mice
#7
Yi-Fei Miao, Wen Su, Yu-Bing Dai, Wan-Fu Wu, Bo Huang, Rodrigo P A Barros, Hao Nguyen, Laure Maneix, You-Fei Guan, Margaret Warner, Jan-Åke Gustafsson
Estrogen, via estrogen receptor alpha (ERα), exerts several beneficial effects on metabolism and energy homeostasis by controlling size, enzymatic activity and hormonal content of adipose tissue. The actions of estrogen on sympathetic ganglia, which are key players in the browning process, are less well known. In the present study we show that ERβ influences browning of subcutaneous adipose tissue (SAT) via its actions both on sympathetic ganglia and on the SAT itself. A 3-day-treatment with a selective ERβ agonist, LY3201, induced browning of SAT in 1-year-old obese WT and ERα(-/-) female mice...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922124/convex-analysis-of-mixtures-for-separating-non-negative-well-grounded-sources
#8
Yitan Zhu, Niya Wang, David J Miller, Yue Wang
Blind Source Separation (BSS) is a powerful tool for analyzing composite data patterns in many areas, such as computational biology. We introduce a novel BSS method, Convex Analysis of Mixtures (CAM), for separating non-negative well-grounded sources, which learns the mixing matrix by identifying the lateral edges of the convex data scatter plot. We propose and prove a sufficient and necessary condition for identifying the mixing matrix through edge detection in the noise-free case, which enables CAM to identify the mixing matrix not only in the exact-determined and over-determined scenarios, but also in the under-determined scenario...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922122/identification-of-critical-paralog-groups-with-indispensable-roles-in-the-regulation-of-signaling-flow
#9
Dezso Modos, Johanne Brooks, David Fazekas, Eszter Ari, Tibor Vellai, Peter Csermely, Tamas Korcsmaros, Katalin Lenti
Extensive cross-talk between signaling pathways is required to integrate the myriad of extracellular signal combinations at the cellular level. Gene duplication events may lead to the emergence of novel functions, leaving groups of similar genes - termed paralogs - in the genome. To distinguish critical paralog groups (CPGs) from other paralogs in human signaling networks, we developed a signaling network-based method using cross-talk annotation and tissue-specific signaling flow analysis. 75 CPGs were found with higher degree, betweenness centrality, closeness, and 'bowtieness' when compared to other paralogs or other proteins in the signaling network...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922120/regulation-of-human-cardiac-potassium-channels-by-full-length-kcne3-and-kcne4
#10
Geoffrey W Abbott
Voltage-gated potassium (Kv) channels comprise pore-forming α subunits and a multiplicity of regulatory proteins, including the cardiac-expressed and cardiac arrhythmia-linked transmembrane KCNE subunits. After recently uncovering novel, N-terminally extended (L) KCNE3 and KCNE4 isoforms and detecting their transcripts in human atrium, reported here are their functional effects on human cardiac Kv channel α subunits expressed in Xenopus laevis oocytes. As previously reported for short isoforms KCNE3S and KCNE4S, KCNE3L inhibited hERG; KCNE4L inhibited Kv1...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922111/mir-365-targets-%C3%AE-arrestin-2-to-reverse-morphine-tolerance-in-rats
#11
Jian Wang, Wei Xu, Tao Zhong, Zongbin Song, Yu Zou, Zhuofeng Ding, Qulian Guo, Xinzhong Dong, Wangyuan Zou
Morphine tolerance is a challenging clinical problem that limits its clinical application in pain treatment. Non-coding microRNAs (miRNAs) modulate gene expression in a post transcriptional manner, and their dysregulation causes various diseases. However, the significance of miRNAs in morphine tolerance is still poorly understood. In the present study, we hypothesized that microRNA-365 (miR-365) is a key functional small RNA that reverses morphine tolerance through regulation of β-arrestin 2 in rats. Here, microarray analysis and quantitative real-time PCR showed that miR-365 was robustly decreased in the spinal cord after chronic morphine administration...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922093/algaas-55-fe-x-ray-radioisotope-microbattery
#12
S Butera, M D C Whitaker, G Lioliou, A M Barnett
This paper describes the performance of a fabricated prototype Al0.2Ga0.8As (55)Fe radioisotope microbattery photovoltaic cells over the temperature range -20 °C to 50 °C. Two 400 μm diameter p(+)-i-n(+) (3 μm i-layer) Al0.2Ga0.8As mesa photodiodes were used as conversion devices in a novel X-ray microbattery prototype. The changes of the key microbattery parameters were analysed in response to temperature: the open circuit voltage, the maximum output power and the internal conversion efficiency decreased when the temperature was increased...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922087/quantum-state-transmission-in-a-superconducting-charge-qubit-atom-hybrid
#13
Deshui Yu, María Martínez Valado, Christoph Hufnagel, Leong Chuan Kwek, Luigi Amico, Rainer Dumke
Hybrids consisting of macroscopic superconducting circuits and microscopic components, such as atoms and spins, have the potential of transmitting an arbitrary state between different quantum species, leading to the prospective of high-speed operation and long-time storage of quantum information. Here we propose a novel hybrid structure, where a neutral-atom qubit directly interfaces with a superconducting charge qubit, to implement the qubit-state transmission. The highly-excited Rydberg atom located inside the gate capacitor strongly affects the behavior of Cooper pairs in the box while the atom in the ground state hardly interferes with the superconducting device...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922083/an-ultra-low-crosstalk-and-broadband-two-mode-de-multiplexer-based-on-adiabatic-couplers
#14
Chunlei Sun, Yu Yu, Mengyuan Ye, Guanyu Chen, Xinliang Zhang
A novel adiabatic couplers (ACs) based broadband and fabrication-tolerant two-mode multiplexer (MUX) is designed using silicon-on-insulator (SOI) platform. Being different from the previously reported ACs-based scheme, the converted and multiplexed signals are on conventional modes, rather than supermodes. The experimental results are in good agreement with the simulations. Over a wavelength range of 75 nm measured, the crosstalk is lower than -20 dB, and the insertion loss is ~1 dB. The eye diagram and bit error rate measurements validate the good performance of the proposed mode MUX...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922081/source-apportionment-of-chlorinated-polycyclic-aromatic-hydrocarbons-associated-with-ambient-particles-in-a-japanese-megacity
#15
Yuta Kamiya, Akihiro Iijima, Fumikazu Ikemori, Tomoaki Okuda, Takeshi Ohura
Chlorinated polycyclic aromatic hydrocarbons (ClPAHs) are novel species of environmental contaminants whose possible sources remain unclear. The occurrence of ClPAHs within total suspended particles (TSP) is compared with weekly air samples at two sites of differing characteristics (industrial and residential) in the megacity of Nagoya, Japan. Samples were collected over 12 months during 2011-2012. All 24 species of targeted ClPAHs were detected at both industrial and residential sites, where mean concentrations of total ClPAHs in TSP were 20...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922077/mast-cell-phenotype-tnf%C3%AE-expression-and-degranulation-status-in-non-small-cell-lung-cancer
#16
A Shikotra, C M Ohri, R H Green, D A Waller, P Bradding
Mast cell infiltration of tumour islets represents a survival advantage in non-small cell lung cancer (NSCLC). The phenotype and activation status of these mast cells is unknown. We investigated the mast cell phenotype in terms of protease content (tryptase-only [MCT], tryptase + chymase [MCTC]) and tumour necrosis factor-alpha (TNFα) expression, and extent of degranulation, in NSCLC tumour stroma and islets. Surgically resected tumours from 24 patients with extended survival (ES; mean survival 86.5 months) were compared with 25 patients with poor survival (PS; mean survival 8...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922074/resistance-gene-identification-from-larimichthys-crocea-with-machine-learning-techniques
#17
Yinyin Cai, Zhijun Liao, Ying Ju, Juan Liu, Yong Mao, Xiangrong Liu
The research on resistance genes (R-gene) plays a vital role in bioinformatics as it has the capability of coping with adverse changes in the external environment, which can form the corresponding resistance protein by transcription and translation. It is meaningful to identify and predict R-gene of Larimichthys crocea (L.Crocea). It is friendly for breeding and the marine environment as well. Large amounts of L.Crocea's immune mechanisms have been explored by biological methods. However, much about them is still unclear...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922071/a-carotenogenic-mini-pathway-introduced-into-white-corn-does-not-affect-development-or-agronomic-performance
#18
Daniela Zanga, Teresa Capell, Gustavo A Slafer, Paul Christou, Roxana Savin
High-carotenoid corn (Carolight®) has been developed as a vehicle to deliver pro-vitamin A in the diet and thus address vitamin A deficiency in at-risk populations in developing countries. Like any other novel crop, the performance of Carolight® must be tested in different environments to ensure that optimal yields and productivity are maintained, particularly in this case to ensure that the engineered metabolic pathway does not attract a yield penalty. Here we compared the performance of Carolight® with its near isogenic white corn inbred parental line under greenhouse and field conditions, and monitored the stability of the introduced trait...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922068/changes-in-retinal-nerve-fiber-layer-thickness-after-multiple-injections-of-novel-vegf-decoy-receptor-conbercept-for-various-retinal-diseases
#19
Zhihua Zhang, Xiaolu Yang, Huiyi Jin, Yuan Qu, Yuan Zhang, Kun Liu, Xun Xu
Conbercept is a recombinant fusion protein with high affinity for all vascular endothelial growth factor isoforms and placental growth factor. The repeated intravitreal injection of conbercept may cause intraocular pressure (IOP) fluctuations and long-term suppression of neurotrophic cytokines, which could lead to retinal nerve fiber layer (RNFL) damage. This retrospective fellow-eye controlled study included 98 eyes of 49 patients. The changes in IOP and RNFL thickness as well as the correlation between RNFL changes and associated factors were evaluated...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922056/identification-and-functional-analysis-of-long-intergenic-noncoding-rna-genes-in-porcine-pre-implantation-embryonic-development
#20
Jingyu Li, Zhengling Gao, Xingyu Wang, Hongbo Liu, Yan Zhang, Zhonghua Liu
Genome-wide transcriptome studies have identified thousands of long intergenic noncoding RNAs (lincRNAs), some of which play important roles in pre-implantation embryonic development (PED). Pig is an ideal model for reproduction, however, porcine lincRNAs are still poorly characterized and it is unknown if they are associated with porcine PED. Here we reconstructed 195,531 transcripts in 122,007 loci, and identified 7,618 novel lincRNAs from 4,776 loci based on published RNA-seq data. These lincRNAs show low exon number, short length, low expression level, tissue-specific expression and cis-acting, which is consistent with previous reports in other species...
December 6, 2016: Scientific Reports
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