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https://www.readbyqxmd.com/read/29933504/unique-variant-of-nod2-pediatric-granulomatous-arthritis-with-severe-1-25-dihydroxyvitamin-d-mediated-hypercalcemia-and-generalized-osteosclerosis
#1
Michael P Whyte, Emilina Lim, William H McAlister, Gary S Gottesman, Lien Trinh, Deborah J Veis, Vinieth N Bijanki, Matthew G Boden, Angela Nenninger, Steven Mumm, David Buchbinder
Pediatric granulomatous arthritis (PGA) refers to two formerly separate entities; autosomal dominant Blau syndrome (BS) and its sporadic phenocopy early-onset sarcoidosis (EOS). In 2001 BS and in 2005 EOS became explained by heterozygous mutations within the gene that encodes nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also called caspase recruitment domain-containing protein 15 (CARD15). NOD2 is a microbe sensor in leukocyte cytosol that activates and regulates inflammation. PGA is characterized by a triad of auto-inflammatory problems (dermatitis, uveitis, and arthritis) in early childhood, which suggests the causal NOD2/CARD15 mutations are activating defects...
June 22, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29933372/analysis-of-a-conditional-gene-trap-reveals-that-tbx5a-is-required-for-heart-regeneration-in-zebrafish
#2
Viktorija Grajevskaja, Diana Camerota, Gianfranco Bellipanni, Jorune Balciuniene, Darius Balciunas
The ability to conditionally inactivate genes is instrumental for fine genetic analysis of all biological processes, but is especially important for studies of biological events, such as regeneration, which occur late in ontogenesis or in adult life. We have constructed and tested a fully conditional gene trap vector, and used it to inactivate tbx5a in the cardiomyocytes of larval and adult zebrafish. We observe that loss of tbx5a function significantly impairs the ability of zebrafish hearts to regenerate after ventricular resection, indicating that Tbx5a plays an essential role in the transcriptional program of heart regeneration...
2018: PloS One
https://www.readbyqxmd.com/read/29933238/endocrine-disruptors-in-the-diet-of-male-sparus-aurata-modulation-of-the-endocannabinoid-system-at-the-hepatic-and-central-level-by-di-isononyl-phthalate-and-bisphenol-a
#3
Isabel Forner-Piquer, Constantinos C Mylonas, Josep Calduch-Giner, Francesca Maradonna, Giorgia Gioacchini, Marco Allarà, Fabiana Piscitelli, Vincenzo Di Marzo, Jaume Pérez-Sánchez, Oliana Carnevali
The increasing manufacture of plastics and their mismanagement has turned plastic into a ubiquitous waste in the marine environment. Among all the substances conforming the plastic items, the effects of a dietary Bisphenol A (BPA) and Di-isononyl phthalate (DiNP) have been evaluated in adult male gilthead sea bream, focusing on their effects in the modulation of the Endocannabinoid System (ECS). In zebrafish, the ECS has been recently chosen as a new target for the activity of some Endocrine Disrupting Chemicals (EDC), since it represents a complex lipid signaling network essential for the well-being of the organisms...
June 19, 2018: Environment International
https://www.readbyqxmd.com/read/29933049/antibiotic-susceptibility-testing-and-species-identification-of-nocardia-isolates-a-retrospective-analysis-of-data-from-a-french-expert-laboratory-2010-2015
#4
David Lebeaux, Emmanuelle Bergeron, Jérémy Berthet, Juliette Djadi-Prat, Delphine Mouniée, Patrick Boiron, Olivier Lortholary, Véronica Rodriguez-Nava
OBJECTIVES: Nocardia, a Gram-positive bacterium, is responsible for rare and severe infections. Accurate microbiological data are essential to guide antibiotic treatment. Our primary objective was to describe species identification and results of antimicrobial susceptibility testing (AST) for Nocardia isolates analysed over a 6-year period. Secondary objectives were to study temporal trends in species distribution and AST results. METHODS: We retrospectively analysed results from Nocardia isolates sent between January 2010 and December 2015 to a French laboratory dedicated to Nocardia (Observatoire Français des Nocardioses)...
June 19, 2018: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/29932914/regulation-of-the-regulator-of-g-protein-signaling-2-expression-and-cellular-localization-by-pka-and-pkc-pathways-in-mouse-granulosa-cells
#5
Hsiao-Yu Yeh, David Sun, Yen-Chun Peng, Yuh-Lin Wu
G protein-coupled receptor (GPCR) activation-mediated PKA and PKC pathways have been recognized to be important in ovarian physiology. Expression of regulator of G-protein signaling 2 (RGS2) has been reported in ovarian granulosa cells. The detailed mechanisms in PKA- and PKC-regulated RGS2 expression and cellular translocation in granulosa cells remain mostly unclear. PKA activator 8-bromo-cAMP and PKC activator phorbol-12, 13-didecanoate appeared to rapidly elevate both protein and mRNA levels and promoter activation of RGS2 gene...
June 19, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29932900/spt6-association-with-rna-polymerase-ii-directs-mrna-turnover-during-transcription
#6
Raghuvar Dronamraju, Austin J Hepperla, Yoichiro Shibata, Alexander T Adams, Terry Magnuson, Ian J Davis, Brian D Strahl
Spt6 is an essential histone chaperone that mediates nucleosome reassembly during gene transcription. Spt6 also associates with RNA polymerase II (RNAPII) via a tandem Src2 homology domain. However, the significance of Spt6-RNAPII interaction is not well understood. Here, we show that Spt6 recruitment to genes and the nucleosome reassembly functions of Spt6 can still occur in the absence of its association with RNAPII. Surprisingly, we found that Spt6-RNAPII association is required for efficient recruitment of the Ccr4-Not de-adenylation complex to transcribed genes for essential degradation of a range of mRNAs, including mRNAs required for cell-cycle progression...
June 21, 2018: Molecular Cell
https://www.readbyqxmd.com/read/29932880/antagonizing-bone-morphogenetic-protein-4-attenuates-disease-progression-in-a-rat-model-of-amyotrophic-lateral-sclerosis
#7
Tomomi Shijo, Hitoshi Warita, Naoki Suzuki, Kensuke Ikeda, Shio Mitsuzawa, Tetsuya Akiyama, Hiroya Ono, Ayumi Nishiyama, Rumiko Izumi, Yasuo Kitajima, Masashi Aoki
Amyotrophic lateral sclerosis (ALS) is an adult-onset, fatal neurodegenerative syndrome characterized by the systemic loss of motor neurons with prominent astrocytosis and microgliosis in the spinal cord and brain. Astrocytes play an essential role in maintaining extracellular microenvironments that surround motor neurons, and are activated by various insults. Growing evidence points to a non-cell autonomous neurotoxicity caused by chronic and sustained astrocytic activation in patients with neurodegenerative diseases, including ALS...
June 19, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29932859/short-duration-rapid-chilling-of-mastectomy-specimens-does-not-interfere-with-breast-cancer-biomarker-and-molecular-testing
#8
Asangi R Kumarapeli, William Bellamy, Ericka Olgaard, Nicole Massoll, Soheila Korourian
CONTEXT: - A thorough gross examination of specimens for breast cancer requires the tissue to be very thinly sectioned, which is often difficult in large mastectomy samples. We have implemented rapid chilling of mastectomy specimens before formalin fixation. OBJECTIVE: - To evaluate the effects of rapid chilling of breast tissue on subsequent biomarker and molecular testing. DESIGN: - Mastectomy specimens were chilled at -80°C for 20 minutes to facilitate uniform sectioning of tissue at 4-mm intervals and enhance proper fixation and identification of small lesions...
June 22, 2018: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29932840/identification-and-characterization-of-candidates-involved-in-production-of-omegas-in-microalgae-a-gene-mining-and-phylogenomic-approach
#9
Vikas U Kapase, Asha A Nesamma, Pannaga P Jutur
Optimizing the production of the high-value renewables such as OMEGAs through pathway engineering requires an in-depth understanding of the structure-function relationship of genes involved in the OMEGA biosynthetic pathways. In this preliminary study, our rationale is to identify and characterize the ∼221 putative genes involved in production of OMEGAs using bioinformatic analysis from the Streptophyte (plants), Chlorophyte (green algae), Rhodophyta (red algae), and Bacillariophyta (diatoms) lineages based on their phylogenomic profiling, conserved motif/domain organization and physico-chemical properties...
June 22, 2018: Preparative Biochemistry & Biotechnology
https://www.readbyqxmd.com/read/29932616/expression-analysis-of-genes-encoding-tex11-tex12-tex14-and-tex15-in-testis-tissues-of-men-with-non-obstructive-azoospermia
#10
Parnaz Borjian Boroujeni, Marjan Sabbaghian, Mehdi Totonchi, Niloofar Sodeifi, Homa Sarkardeh, Azam Samadian, Mohammad Ali Sadighi-Gilani, Hamid Gourabi
OBJECTIVE: Spermatogenesis is a complex process controlled by a plethora of genes. Changes in expression and function of these genes may thus lead to spermatogenic deficiency and male infertility. TEX11, TEX12, TEX14 and TEX15 are germ cell-specific genes expressed in the testis. TEX11, involved in the initiation and maintenance of chromosome synapses in meiotic chromosomes, has been shown to be essential for meiosis and fertility in males. TEX14, a component of intercellular bridges in germ cells, is required for spermatogenesis and fertility...
June 22, 2018: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29932274/osmads25-regulates-root-system-development-via-auxin-signaling-in-rice
#11
Guopeng Zhang, Ning Xu, Hongli Chen, Guixue Wang, Junli Huang
The phytohormone auxin is essential for root development in plants. OsMADS25 is a homolog of the AGL17-clade MADS-box genes in rice. In spite of recent progress, the molecular mechanisms underlying the regulation of root development by OsMADS25 are not well known. It is unclear whether OsMADS25 regulates root development via auxin signaling. In this study, we examined the role of OsMADS25 in root development and characterized the signaling pathway through which OsMADS25 regulates root system development in rice...
June 22, 2018: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29932228/the-atp-binding-protein-fgarb1-is-essential-for-penetration-infectious-and-normal-growth-of-fusarium-graminearum
#12
Yanni Yin, Zhihui Wang, Danni Cheng, Xiang Chen, Yun Chen, Zhonghua Ma
ATP-binding cassette (ABC) transporters act mainly to transport compounds across cellular membranes and are important for diverse biological processes. However, their roles in pathogenesis have not been well-characterized in Fusarium graminearum. Sixty F. graminearum ABC protein genes were functionally characterized. Among them, FgArb1 regulates normal growth and importantly is essential for pathogenicity. Thus, the regulatory mechanisms of FgArb1 in pathogenicity were analyzed in this study. FgArb1 interacts with the mitogen-activated protein kinase (MAPK) FgSte7, and partially modulates plant penetration by regulating the phosphorylation of FgGpmk1 (the downstream kinase of FgSte7)...
June 22, 2018: New Phytologist
https://www.readbyqxmd.com/read/29932209/hypoxia-negatively-affects-senescence-in-osteoclasts-and-delays-osteoclastogenesis
#13
Ben Gorissen, Alain de Bruin, Alberto Miranda-Bedate, Nicoline Korthagen, Claudia Wolschrijn, Teun J de Vries, René van Weeren, Marianna A Tryfonidou
Cellular senescence, that is, the withdrawal from the cell cycle, combined with the acquirement of the senescence associated secretory phenotype has important roles during health and disease and is essential for tissue remodeling during embryonic development. Osteoclasts are multinucleated cells, responsible for bone resorption, and cell cycle arrest during osteoclastogenesis is well recognized. Therefore, the aim of this study was to investigate whether these cells should be considered senescent and to assess the influence of hypoxia on their potential senescence status...
June 22, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29932128/transcriptomics-analysis-of-the-chinese-pear-pathotype-of-alternaria-alternata-gives-insights-into-novel-mechanisms-of-hsaf-antifungal-activities
#14
Feng He, Bingxin Li, Gan Ai, Alex Machio Kange, Yancun Zhao, Xiong Zhang, Yifan Jia, Daolong Dou, Fengquan Liu, Haiqun Cao
Alternaria alternata (Fries) Keissler is a lethal pear pathogen that causes leaf black spot disease of pear in Southern China. Heat-stable activity factor (HSAF) is a polycyclic tetramate macrolactam (PTM) produced by Lysobacter enzymogenes and many other microbes with a broad-spectrum antifungal activity against many filamentous fungi. In this study, we evaluated the antifungal effect of HSAF against A. alternata and proposed its antifungal mechanism in A. alternata . We report that HSAF inhibited the mycelial growth of A...
June 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29932061/novel-tbx22-mutations-in-chinese-nonsyndromic-cleft-lip-palate-families
#15
Jiewen Dai, Chen Xu, Guomin Wang, Yun Liang, Teng Wan, Yong Zhang, Xiaofeng Xu, Lebin Yu, Zonggang Che, Qiqing Han, Dandan Wu, Yusheng Yang
TBX22 is a gene which contribute to cleft lip/palate, and many mutation sites of TBX22 have been reported. However, the exact role of TBX22 mutation in Chinese nonsyndromic cleft lip/palate (NSCL/P) family was not clearly explored. In this study, we tried to investigate the profiles and effects of TBX22 mutation in Chinese NSCL/P family. Members of two Chinese NSCL/P families and 200 normal controls were enrolled in this study. Further, DNA sequence and bioinformatic analysis for TBX22 were performed. The results showed that a novel and essential splicing site mutation, IVS6-1G>C , was detected in a family with cleft palate...
June 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29931811/bacteroides-fragilis-requires-the-ferrous-iron-transporter-feoab-and-the-cobn-like-proteins-btus1-and-btus2-for-assimilation-of-iron-released-from-heme
#16
Edson R Rocha, Hector A Bergonia, Svetlana Gerdes, Charles Jeffrey Smith
The intestinal commensal and opportunistic anaerobic pathogen Bacteroides fragilis has an essential requirement for both heme and free iron to support growth in extraintestinal infections. In the absence of free iron, B. fragilis can utilize heme as the sole source of iron. However, the mechanisms to remove iron from heme are not completely understood. In this study, we show that the inner membrane ferrous iron transporter ∆feoAB mutant strain is no longer able to grow with heme as the sole source of iron...
June 21, 2018: MicrobiologyOpen
https://www.readbyqxmd.com/read/29931698/a-subregion-based-burden-test-for-simultaneous-identification-of-susceptibility-loci-and-subregions-within
#17
Bin Zhu, Lisa Mirabello, Nilanjan Chatterjee
In rare variant association studies, aggregating rare and/or low frequency variants, may increase statistical power for detection of the underlying susceptibility gene or region. However, it is unclear which variants, or class of them, in a gene contribute most to the association. We proposed a subregion-based burden test (REBET) to simultaneously select susceptibility genes and identify important underlying subregions. The subregions are predefined by shared common biologic characteristics, such as the protein domain or functional impact...
June 22, 2018: Genetic Epidemiology
https://www.readbyqxmd.com/read/29931324/cgt-seq-epigenome-guided-de-novo-assembly-of-the-core-genome-for-divergent-populations-with-large-genome
#18
Meifang Qi, Zijuan Li, Chunmei Liu, Wenyan Hu, Luhuan Ye, Yilin Xie, Yili Zhuang, Fei Zhao, Wan Teng, Qi Zheng, Zhenjun Fan, Lin Xu, Zhaobo Lang, Yiping Tong, Yijing Zhang
Genetic diversity in plants is remarkably high. Recent whole genome sequencing (WGS) of 67 rice accessions recovered 10,872 novel genes. Comparison of the genetic architecture among divergent populations or between crops and wild relatives is essential for obtaining functional components determining crucial traits. However, many major crops have gigabase-scale genomes, which are not well-suited to WGS. Existing cost-effective sequencing approaches including re-sequencing, exome-sequencing and restriction enzyme-based methods all have difficulty in obtaining long novel genomic sequences from highly divergent population with large genome size...
June 21, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29931259/escherichia-coli-itat-is-a-type-ii-toxin-that-inhibits-translation-by-acetylating-isoleucyl-trnaile
#19
Brendan Wilcox, Ilya Osterman, Marina Serebryakova, Dmitry Lukyanov, Ekaterina Komarova, Bridget Gollan, Natalia Morozova, Yuri I Wolf, Kira S Makarova, Sophie Helaine, Petr Sergiev, Svetlana Dubiley, Sergei Borukhov, Konstantin Severinov
Prokaryotic toxin-antitoxin (TA) modules are highly abundant and are involved in stress response and drug tolerance. The most common type II TA modules consist of two interacting proteins. The type II toxins are diverse enzymes targeting various essential intracellular targets. The antitoxin binds to cognate toxin and inhibits its function. Recently, TA modules whose toxins are GNAT-family acetyltransferases were described. For two such systems, the target of acetylation was shown to be aminoacyl-tRNA: the TacT toxin targets aminoacylated elongator tRNAs, while AtaT targets the amino acid moiety of initiating tRNAMet...
June 21, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29931170/a-tandem-repeat-array-in-ig-dmr-is-essential-for-imprinting-of-paternal-allele-at-the-dlk1-dio3-domain-during-embryonic-development
#20
Takeshi Saito, Satoshi Hara, Tomoko Kato, Moe Tamano, Akari Muramatsu, Hiroshi Asahara, Shuji Takada
Genomic imprinting is a phenomenon that causes parent-origin-specific monoallelic expression of a small subset of genes, known as imprinted genes, by parentally inherited epigenetic marks. Imprinted genes at the delta-like homolog 1 gene (Dlk1)-type III iodothyronine deiodinase gene (Dio3) imprinted domain, regulated by intergenic differentially methylated region (IG-DMR), are essential for normal development of late embryonic stages. Although the functions of IG-DMR have been reported by generating knockout mice, molecular details of the regulatory mechanisms are not fully understood as the specific sequence(s) of IG-DMR have not been identified...
June 20, 2018: Human Molecular Genetics
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