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https://www.readbyqxmd.com/read/27926992/inherited-diseases-caused-by-mutations-in-cathepsin-protease-genes
#1
REVIEW
Stephanie Ketterer, Alejandro Gomez-Auli, Larissa E Hillebrand, Agnese Petrera, Anett Ketscher, Thomas Reinheckel
Lysosomal cathepsins are proteolytic enzymes increasingly recognized as prognostic markers and potential therapeutic targets in a variety of diseases. In those conditions the cathepsins are mostly overexpressed, thereby driving the respective pathogenic processes. Although less known, there are also diseases with a genetic deficiency of cathepsins. In fact, nowadays six out of the fifteen human proteases called "cathepsins" have been linked to inherited syndromes. However, only three of these syndromes are typical lysosomal storage diseases, while the others are apparently caused by defective cleavage of specific protein substrates...
December 7, 2016: FEBS Journal
https://www.readbyqxmd.com/read/27926912/cranioplasty-after-craniectomy-in-a-pediatric-population-single-center-experience-from-a-developing-country
#2
Muhammad Waqas, Badar Ujjan, Yousaf Bashir Hadi, Faizuddin Najmuddin, Altaf Ali Laghari, Swaleha Khalid, Muhammad Ehsan Bari, Umar Farooq Bhatti
Cranioplasty is a frequently performed procedure in neurosurgery. The pediatric population for this procedure is distinct from the adult one because of the growing skulls and thinner bones of the calvarium. A paucity of data on the outcomes of this procedure in the pediatric population has been identified repeatedly. We conducted a retrospective cohort study to investigate the outcomes in a pediatric population that underwent cranioplasty after craniectomy at our institute in a developing-world country. Our cohort showed no association of complication rate or cosmetic outcomes with the timing of cranioplasty, area of skull defect, type of implant used, or method of storage...
December 8, 2016: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27926872/deletion-of-the-polycomb-group-protein-ezh2-leads-to-compromised-self-renewal-and-differentiation-defects-in-human-embryonic-stem-cells
#3
Adam Collinson, Amanda J Collier, Natasha P Morgan, Arnold R Sienerth, Tamir Chandra, Simon Andrews, Peter J Rugg-Gunn
Through the histone methyltransferase EZH2, the Polycomb complex PRC2 mediates H3K27me3 and is associated with transcriptional repression. PRC2 regulates cell-fate decisions in model organisms; however, its role in regulating cell differentiation during human embryogenesis is unknown. Here, we report the characterization of EZH2-deficient human embryonic stem cells (hESCs). H3K27me3 was lost upon EZH2 deletion, identifying an essential requirement for EZH2 in methylating H3K27 in hESCs, in contrast to its non-essential role in mouse ESCs...
December 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27926867/genomic-instability-is-induced-by-persistent-proliferation-of-cells-undergoing-epithelial-to-mesenchymal-transition
#4
Valentine Comaills, Lilian Kabeche, Robert Morris, Rémi Buisson, Min Yu, Marissa Wells Madden, Joseph A LiCausi, Myriam Boukhali, Ken Tajima, Shiwei Pan, Nicola Aceto, Srinjoy Sil, Yu Zheng, Tilak Sundaresan, Toshifumi Yae, Nicole Vincent Jordan, David T Miyamoto, David T Ting, Sridhar Ramaswamy, Wilhelm Haas, Lee Zou, Daniel A Haber, Shyamala Maheswaran
TGF-β secreted by tumor stroma induces epithelial-to-mesenchymal transition (EMT) in cancer cells, a reversible phenotype linked to cancer progression and drug resistance. However, exposure to stromal signals may also lead to heritable changes in cancer cells, which are poorly understood. We show that epithelial cells failing to undergo proliferation arrest during TGF-β-induced EMT sustain mitotic abnormalities due to failed cytokinesis, resulting in aneuploidy. This genomic instability is associated with the suppression of multiple nuclear envelope proteins implicated in mitotic regulation and is phenocopied by modulating the expression of LaminB1...
December 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27926863/chronic-infection-depletes-hematopoietic-stem-cells-through-stress-induced-terminal-differentiation
#5
Katie A Matatall, Mira Jeong, Siyi Chen, Deqiang Sun, Fengju Chen, Qianxing Mo, Marek Kimmel, Katherine Y King
Chronic infections affect a third of the world's population and can cause bone marrow suppression, a severe condition that increases mortality from infection. To uncover the basis for infection-associated bone marrow suppression, we conducted repeated infection of WT mice with Mycobacterium avium. After 4-6 months, mice became pancytopenic. Their hematopoietic stem and progenitor cells (HSPCs) were severely depleted and displayed interferon gamma (IFN-γ) signaling-dependent defects in self-renewal. There was no evidence of increased HSPC mobilization or apoptosis...
December 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27926860/l-met-activates-arabidopsis-glr-ca-2-channels-upstream-of-ros-production-and-regulates-stomatal-movement
#6
Dongdong Kong, Heng-Cheng Hu, Eiji Okuma, Yuree Lee, Hui Sun Lee, Shintaro Munemasa, Daeshik Cho, Chuanli Ju, Leah Pedoeim, Barbara Rodriguez, Juan Wang, Wonpil Im, Yoshiyuki Murata, Zhen-Ming Pei, June M Kwak
Plant glutamate receptor homologs (GLRs) have long been proposed to function as ligand-gated Ca(2+) channels, but no in planta evidence has been provided. Here, we present genetic evidence that Arabidopsis GLR3.1 and GLR3.5 form Ca(2+) channels activated by L-methionine (L-Met) at physiological concentrations and regulate stomatal apertures and plant growth. The glr3.1/3.5 mutations resulted in a lower cytosolic Ca(2+) level, defective Ca(2+)-induced stomatal closure, and Ca(2+)-deficient growth disorder, all of which involved L-Met...
December 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27926532/novel-parp1-2-inhibitor-mefuparib-hydrochloride-elicits-potent-in-vitro-and-in-vivo-anticancer-activity-characteristic-of-high-tissue-distribution
#7
Jin-Xue He, Meng Wang, Xia-Juan Huan, Chuan-Huizi Chen, Shan-Shan Song, Ying-Qing Wang, Xue-Mei Liao, Cun Tan, Qian He, Lin-Jiang Tong, Yu-Ting Wang, Xiao-Hua Li, Yi Su, Yan-Yan Shen, Yi-Ming Sun, Xin-Ying Yang, Yi Chen, Zhi-Wei Gao, Xiao-Yan Chen, Bing Xiong, Xiu-Lian Lu, Jian Ding, Chun-Hao Yang, Ze-Hong Miao
The approval of poly(ADP-ribose) polymerase (PARP) inhibitor AZD2281 in 2014 marked the successful establishment of the therapeutic strategy targeting homologous recombination repair defects of cancers in the clinic. However, AZD2281 has poor water solubility, low tissue distribution and relatively weak in vivo anticancer activity, which appears to become limiting factors for its clinical use. In this study, we found that mefuparib hydrochloride (MPH) was a potent PARP inhibitor, possessing prominent in vitro and in vivo anticancer activity...
December 1, 2016: Oncotarget
https://www.readbyqxmd.com/read/27926516/frequent-silencing-of-the-candidate-tumor-suppressor-trim58-by-promoter-methylation-in-early-stage-lung-adenocarcinoma
#8
Koichiro Kajiura, Kiyoshi Masuda, Takuya Naruto, Tomohiro Kohmoto, Miki Watabnabe, Mitsuhiro Tsuboi, Hiromitsu Takizawa, Kazuya Kondo, Akira Tangoku, Issei Imoto
In this study, we aimed to identify novel drivers that would be epigenetically altered through aberrant methylation in early-stage lung adenocarcinoma (LADC), regardless of the presence or absence of tobacco smoking-induced epigenetic field defects. Through genome-wide screening for aberrantly methylated CpG islands (CGIs) in 12 clinically uniform, stage-I LADC cases affecting six non-smokers and six smokers, we identified candidate tumor-suppressor genes (TSGs) inactivated by hypermethylation. Through systematic expression analyses of those candidates in panels of additional tumor samples and cell lines treated or not treated with 5-aza-deoxycitidine followed by validation analyses of cancer-specific silencing by CGI hypermethylation using a public database, we identified TRIM58 as the most prominent candidate for TSG...
December 1, 2016: Oncotarget
https://www.readbyqxmd.com/read/27925727/can-point-defects-in-surfaces-in-solution-be-atomically-resolved-by-atomic-force-microscopy
#9
Bernhard Reischl, Paolo Raiteri, Julian D Gale, Andrew L Rohl
While the atomic force microscope (AFM) is able to image mineral surfaces in solution with atomic resolution, so far, it has been a matter of debate whether imaging point defects is also possible under these conditions. The difficulties stem from the limited knowledge of what types of defects may be stable in the presence of an AFM tip, as well as from the complicated imaging mechanism involving interactions between hydration layers over the surface and around the tip apex. Here, we present atomistic molecular dynamics and free energy calculations of the AFM imaging of vacancies and ionic substitutions in the calcite (101[over ¯]4) surface in water, using a new silica AFM tip model...
November 25, 2016: Physical Review Letters
https://www.readbyqxmd.com/read/27925688/rare-deleterious-pard3-variants-in-the-apkc-binding-region-are-implicated-in-the-pathogenesis-of-human-cranial-neural-tube-defects-via-disrupting-apical-tight-junction-formation
#10
Xiaoli Chen, Yu An, Yonghui Gao, Liu Guo, Lei Rui, Hua Xie, Mei Sun, Siv Lam Hung, Xiaoming Sheng, Jizhen Zou, Yihua Bao, Hongyan Guan, Bo Niu, Zandong Li, Richard H Finnell, James F Gusella, Bai-Lin Wu, Ting Zhang
Increasing evidence that mutation of planar cell polarity (PCP) genes contributes to human cranial NTD susceptibility prompted us to hypothesize that rare variants of genes in the core apical-basal polarity (ABP) pathway are risk factors for cranial NTDs. In this study, we screened for rare genomic variation of PARD3 in 138 cranial NTD cases and 274 controls. Overall, the rare deleterious variants of PARD3 were significantly associated with increased risk for cranial NTDs (11/138 vs.7/274, p<0.05, OR = 3...
December 7, 2016: Human Mutation
https://www.readbyqxmd.com/read/27925620/an-opportunity-to-address-the-genetic-causes-of-birth-defects
#11
Mustafa K Khokha, Laura E Mitchell, John B Wallingford
No abstract text is available yet for this article.
December 7, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27925466/a-prospective-evaluation-of-contrast-and-radiation-dose-and-image-quality-in-cardiac-ct-in-children-with-complex-congenital-heart-disease-using-low-concentration-iodinated-contrast-agent-and-low-tube-voltage-and-current
#12
Qiao-Ru Hou, Wei Gao, Yu Min Zhong, Ai Min Sun, Qian Wang, Hai Sheng Qiu, Fang Wang, Jian Ying Li, Liwei Hu
OBJECTIVE: To assess image quality, contrast dose and radiation dose in cardiac CT in children with congenital heart disease using low-concentration iodinated contrast agent and low tube voltage and current in comparison with standard-dose protocol. METHODS: 110 patients with congenital heart disease were randomized to one of the two scan protocols: Group A (n=45) with 120mA tube current and contrast agent of 270mgI/ml in concentration (Visipaque, GE Healthcare), and Group B (n=65) with the conventional 160mA and 370mgI/mL concentration contrast (Iopamiro, Bracco)...
December 7, 2016: British Journal of Radiology
https://www.readbyqxmd.com/read/27925401/dickeya-dadantii-pectic-enzymes-necessary-for-virulence-are-also-responsible-for-activation-of-the-arabidopsis-thaliana-innate-immune-system
#13
Dominique Expert, Oriane Patrit, Vladimir E Shevchik, Claude Perino, Virginie Boucher, Creze Christophe, Estelle Wenes, Mathilde Fagard
Soft-rot diseases of plants attributed to Dickeya dadantii result from lysis of plant cell wall due to pectic enzymes released by the bacterial cell by a type II secretion system (T2SS). A. thaliana can express several lines of defence against this bacterium. We employed bacterial mutants with defective envelope structures or secreted proteins to examine early plant defence reactions. We focused on the production of AtrbohD-dependent ROS, callose deposition and cell death as indicators of these reactions. We observed a significant reduction in ROS and callose formation with a bacterial mutant where genes encoding five pectate lyases (Pels) were disrupted...
December 7, 2016: Molecular Plant Pathology
https://www.readbyqxmd.com/read/27925281/effect-of-natural-organic-matter-on-the-photo-induced-toxicity-of-titanium-dioxide-tio2-nanoparticles
#14
Alexis M Wormington, Jason Coral, Matthew M Alloy, Carmen L Damare, Charles M Mansfield, Stephen J Klaine, Joseph H Bisesi, Aaron P Roberts
Nano-TiO2 is the most widely used form of nanoparticles in commercial industry, and come in two main configurations: rutile and anatase. Rutile TiO2 is used in UV screening applications, while anatase TiO2 crystals have a surface defect that makes them photoreactive. There are numerous reports in the literature of photo-induced toxicity to aquatic organisms following co-exposure to anatase nano-TiO2 and UV. All natural freshwater contains varying amounts of natural organic matter (NOM), which can drive UV attenuation and quench ROS in aquatic ecosystems...
December 7, 2016: Environmental Toxicology and Chemistry
https://www.readbyqxmd.com/read/27925229/plga-ptmc-cultured-bone-mesenchymal-stem-cell-scaffold-enhances-cartilage-regeneration-in-tissue-engineered-tracheal-transplantation
#15
Bingyang Yan, Zhipei Zhang, Xiaoping Wang, Yunfeng Ni, Yongshi Liu, Tao Liu, Wuping Wang, Hao Xing, Ying Sun, Jian Wang, Xiao-Fei Li
The treatment of long-segment tracheal defect requires the transplantation of effective tracheal substitute, and the tissue-engineered trachea (TET) has been proposed as an ideal tracheal substitute. The major cause of the failure of segmental tracheal defect reconstruction by TET is airway collapse caused by the chondromalacia of TET cartilage. The key to maintain the TET structure is the regeneration of chondrocytes in cartilage, which can secrete plenty of cartilage matrices. To address the problem of the chondromalacia of TET cartilage, this study proposed an improved strategy...
December 7, 2016: Artificial Organs
https://www.readbyqxmd.com/read/27925204/rabs-membrane-dynamics-and-parkinson-s-disease
#16
REVIEW
Bor Luen Tang
Genes encoding cellular membrane trafficking components, namely RAB7L1 and RAB39B, are more recently recognized factors associated with Parkinson's disease (PD). Encoded by a gene within the PARK16 locus, RAB7L1 interacts with Leucine-rich repeat kinase 2 (LRRK2) to act in intracellular transport processes that are likely important in neuronal survival and function. LRRK2 also directly phosphorylates a number of other Rab proteins. On the other hand, nonsense and missense mutations of the X-chromosome localized RAB39B, were shown to underlie X-linked intellectual disability (ID) in male patients with early-onset PD...
December 7, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/27925022/perceived-neighborhood-characteristics-and-the-functional-performance-of-elderly-people-in-the-belo-horizonte-metropolitan-area-minas-gerais-state-brazil-a-quantile-regression-analysis
#17
Renzo Joel Flores Ortiz, Fabiane Ribeiro Ferreira, Maria Fernanda Lima-Costa, Cibele Comini César
This study aims to examine the relationship between neighborhood characteristics and the functional performance of elderly people living in the Belo Horizonte metropolitan area, Minas Gerais State, Brazil. Data of a representative sample of 2,033 elderly were analyzed using quantile regression. Functional performance was measured by the number of activities of daily living (ADL) the elderly had difficulty to perform. The neighborhood characteristics evaluated were: maintenance, trust, insecurity and defective sidewalks...
December 1, 2016: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/27924941/progressive-muscle-cell-delivery-as-a-solution-for-volumetric-muscle-defect-repair
#18
Ji Hyun Kim, In Kap Ko, Anthony Atala, James J Yoo
Reconstructing functional volumetric tissue in vivo following implantation remains a critical challenge facing cell-based approaches. Several pre-vascularization approaches have been developed to increase cell viability following implantation. Structural and functional restoration was achieved in a preclinical rodent tissue defect; however, the approach used in this model fails to repair larger (>mm) defects as observed in a clinical setting. We propose an effective cell delivery system utilizing appropriate vascularization at the site of cell implantation that results in volumetric and functional tissue reconstruction...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27924812/interstitial-oxygen-as-a-source-of-p-type-conductivity-in-hexagonal-manganites
#19
Sandra H Skjærvø, Espen T Wefring, Silje K Nesdal, Nikolai H Gaukås, Gerhard H Olsen, Julia Glaum, Thomas Tybell, Sverre M Selbach
Hexagonal manganites, h-RMnO3 (R=Sc, Y, Ho-Lu), have been intensively studied for their multiferroic properties, magnetoelectric coupling, topological defects and electrically conducting domain walls. Although point defects strongly affect the conductivity of transition metal oxides, the defect chemistry of h-RMnO3 has received little attention. We use a combination of experiments and first principles electronic structure calculations to elucidate the effect of interstitial oxygen anions, Oi, on the electrical and structural properties of h-YMnO3...
December 7, 2016: Nature Communications
https://www.readbyqxmd.com/read/27924807/genetic-and-molecular-analyses-indicate-independent-effects-of-tgifs-on-nodal-and-gli3-in-neural-tube-patterning
#20
Kenichiro Taniguchi, Anoush E Anderson, Tiffany A Melhuish, Anne L Carlton, Arkadi Manukyan, Ann E Sutherland, David Wotton
Holoprosencephaly (HPE) is a prevalent craniofacial developmental disorder that has both genetic and environmental causes. The gene encoding TG-interacting factor 1 (TGIF1) is among those that are routinely screened in HPE patients. However, the mechanisms by which TGIF1 variants cause HPE are not fully understood. TGIF1 is a transcriptional repressor that limits the output of the Transforming Growth Factor ß (TGFß)/Nodal signaling pathway, and HPE in patients with TGIF1 variants has been suggested to be due to increased Nodal signaling...
December 7, 2016: European Journal of Human Genetics: EJHG
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