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https://www.readbyqxmd.com/read/28339911/a-null-variant-in-the-apolipoprotein-l3-gene-is-associated-with-non-diabetic-nephropathy
#1
Karl L Skorecki, Jessica H Lee, Carl D Langefeld, Saharon Rosset, Shay Tzur, Walter G Wasser, Revital Shemer, Gregory A Hawkins, Jasmin Divers, Rulan S Parekh, Man Li, Matthew G Sampson, Matthias Kretzler, Martin R Pollak, Shrijal Shah, Daniel Blackler, Brendan Nichols, Michael Wilmot, Seth L Alper, Barry I Freedman, David J Friedman
Background.: Inheritance of apolipoprotein L1 gene ( APOL1 ) renal-risk variants in a recessive pattern strongly associates with non-diabetic end-stage kidney disease (ESKD). Further evidence supports risk modifiers in APOL1 -associated nephropathy; some studies demonstrate that heterozygotes possess excess risk for ESKD or show earlier age at ESKD, relative to those with zero risk alleles. Nearby loci are also associated with ESKD in non-African Americans. Methods.: We assessed the role of the APOL3 null allele rs11089781 on risk of non-diabetic ESKD...
February 20, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28339863/cigarette-smoking-and-chronic-kidney-disease-in-the-general-population-a-systematic-review-and-meta-analysis-of-prospective-cohort-studies
#2
Jia Xia, Lin Wang, Zhiheng Ma, Liping Zhong, Ying Wang, Yachan Gao, Liqun He, Xiao Su
Background.: Cigarette smoking has been established as a major risk factor for chronic kidney disease (CKD) development in people with diabetes. Conflicting evidence exists among representative community-based studies as to whether smoking is an independent risk factor for CKD. The aim of this meta-analysis was to assess the effects of tobacco smoking on the development of CKD in adult general populations. Methods.: A literature search was conducted using MEDLINE and Embase from their inception through 31 May 2016 for prospective cohort studies that reported relative risks of CKD with smoking status in the general population...
February 27, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28339645/the-extent-of-root-resorption-and-tooth-movement-following-the-application-of-ascending-and-descending-magnetic-forces-a-prospective-split-mouth-microcomputed-tomography-study
#3
Tiffany Teen Yu Huang, Selma Elekdag-Turk, Oyku Dalci, Mohammed Almuzian, Ersan Ilsay Karadeniz, Selma Elekdag-Turk, Carmen Gonzales, Peter Petocz, Tamer Turk, M Ali Darendeliler
Objective: Various factors have been examined in the literature in an attempt to reduce the incidence and severity of root resorption. The purpose of the present investigation is to test the null hypothesis that there is no difference in relation to force level using gradually increasing (ascending) and decreasing (descending) orthodontic force generated by magnets on the severity of Orthodontically Induced Inflammatory Iatrogenic Root Resorption (OIIRR) and amount of tooth movement. Methods: Twenty maxillary first premolars from 10 patients were subjected to ascending (25-225 g, magnets in attraction) and descending (225 to 25 g, magnets in repulsion) buccal forces using a split mouth design over an 8-week period...
February 16, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/28339599/a-single-nucleotide-polymorphism-in-coq9-affects-mitochondrial-and-ovarian-function-and-fertility-in-holstein-cows%C3%A2
#4
M Sofia Ortega, Stephanie Wohlgemuth, Paula Tribulo, Luiz G B Siqueira, Daniel J Null, John B Cole, Marcus V Da Silva, Peter J Hansen
A single missense mutation at position 159 of coenzyme Q9 (COQ9) (G→A; rs109301586) has been associated with genetic variation in fertility in Holstein cattle, with the A allele associated with higher fertility. COQ9 is involved in the synthesis of coenzyme COQ10, a component of the electron transport system of the mitochondria. Here we tested whether reproductive phenotype is associated with the mutation and evaluated functional consequences for cellular oxygen metabolism, body weight changes, and ovarian function...
February 3, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28339550/the-tension-sensitive-ion-transport-activity-of-msl8-is-critical-for-its-function-in-pollen-hydration-and-germination
#5
Eric S Hamilton, Elizabeth S Haswell
All cells respond to osmotic challenges, including those imposed during normal growth and development. Mechanosensitive (MS) ion channels provide a conserved mechanism for regulating osmotic forces by conducting ions in response to increased membrane tension. We previously demonstrated that the MS ion channel MscS-Like 8 (MSL8) is required for pollen to survive multiple osmotic challenges that occur during the normal process of fertilization, and that it can inhibit pollen germination. However, it remained unclear whether these physiological functions required ion flux through a mechanically gated channel provided by MSL8...
January 10, 2017: Plant & Cell Physiology
https://www.readbyqxmd.com/read/28334958/self-help-materials-for-smoking-relapse-prevention-a-process-evaluation-of-the-sharpish-randomized-controlled-trial
#6
Caitlin Notley, Annie Blyth, Vivienne Maskrey, Babu Karavadra, Tracey Brown, Richard Holland, Max O Bachmann, Thomas H Brandon, Fujian Song
Background: UK Stop Smoking Services are effective at assisting smokers to quit. However, smoking relapse rates are high, representing a significant public health problem. No effective interventions are currently available. This embedded qualitative process evaluation, within a randomized controlled trial of a self-help smoking relapse prevention intervention, aimed to understand patient perspectives in explaining the null trial finding, and to make recommendations for intervention development...
February 24, 2017: Journal of Public Health
https://www.readbyqxmd.com/read/28334953/early-motor-phenotype-detection-in-a-female-mouse-model-of-rett-syndrome-is-improved-by-cross-fostering
#7
Annie Vogel Ciernia, Michael Pride, Blythe Durbin-Johnson, Adriana Noronha, Alene Chang, Dag H Yasui, Jacqueline N Crawley, Janine M LaSalle
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) that occur sporadically in 1:10,000 female births. RTT is characterized by a period of largely normal development followed by regression in language and motor skills at 6-18 months of age. Mecp2 mutant mice recapitulate many of the clinical features of RTT, but the majority of behavioral assessments have been conducted in male Mecp2 hemizygous null mice as offspring of heterozygous dams...
March 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334947/protocadherin-19-pcdh19-interacts-with-paraspeckle-protein-nono-to-co-regulate-gene-expression-with-estrogen-receptor-alpha-er%C3%AE
#8
Duyen H Pham, Chuan Tan, Claire C Homan, Kristy Kolc, Mark Corbett, Dale McAninch, Archa Fox, Paul Thomas, Raman Kumar, Jozef Gecz
De novo and inherited mutations of X-chromosome cell adhesion molecule protocadherin 19 (PCDH19) cause frequent, highly variable epilepsy, autism, cognitive decline and behavioural problems syndrome. Intriguingly, hemizygous null males are not affected while heterozygous females are, contradicting established X-chromosome inheritance. The disease mechanism is not known. Cellular mosaicism is the likely driver. We have identified p54nrb/NONO, a multifunctional nuclear paraspeckle protein with known roles in nuclear hormone receptor gene regulation, as a PCDH19 protein interacting partner...
March 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334922/scn2a-deletion-improves-survival-and-brain-heart-dynamics-in-the-kcna1-null-mouse-model-of-sudden-unexpected-death-in-epilepsy-sudep
#9
Vikas Mishra, Bharat K Karumuri, Nicole M Gautier, Rui Liu, Timothy N Hutson, Stephanie L Vanhoof-Villalba, Ioannis Vlachos, Leonidas Iasemidis, Edward Glasscock
People with epilepsy have greatly increased probability of premature mortality due to sudden unexpected death in epilepsy (SUDEP). Identifying which patients are most at risk of SUDEP is hindered by a complex genetic etiology, incomplete understanding of the underlying pathophysiology, and lack of prognostic biomarkers. Here we evaluated heterozygous Scn2a gene deletion (Scn2a+/-) as a protective genetic modifier in the Kcna1 knockout mouse (Kcna1-/-) model of SUDEP, while searching for biomarkers of SUDEP risk embedded in electroencephalography (EEG) and electrocardiography (ECG) recordings...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334784/testing-the-ret-and-sema3d-genetic-interaction-in-mouse-enteric-nervous-system-development
#10
Ashish Kapoor, Dallas R Auer, Dongwon Lee, Sumantra Chatterjee, Aravinda Chakravarti
For most multigenic disorders, clinical manifestation (penetrance) and presentation (expressivity) are likely to be an outcome of genetic interaction between multiple susceptibility genes. Here, using gene knockouts in mice we evaluated genetic interaction between loss of Ret and loss of Sema3d, two Hirschsprung disease susceptibility genes. We intercrossed Ret and Sema3d double null heterozygotes to generate mice with the nine possible genotypes and assessed survival by counting various genotypes, myenteric plexus presence by acetylcholinesterase staining and embryonic day 12...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334366/vcnet-vector-based-gene-co-expression-network-construction-and-its-application-to-rna-seq-data
#11
Zengmiao Wang, Huaying Fang, Nelson Leung-Sang Tang, Minghua Deng
Motivation: Building gene co-expression network (GCN) from gene expression data is an important field of bioinformatic research. Nowadays, RNA-seq data provides high dimensional information to quantify gene expressions in term of read counts for individual exons of genes. Such an increase in the dimension of expression data during the transition from microarray to RNA-seq era made many previous co-expression analysis algorithms based on simple univariate correlation no longer applicable...
March 8, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28334121/interspersed-distribution-of-selectivity-to-kinematic-stimulus-features-in-supragranular-layers-of-mouse-barrel-cortex
#12
Francisco J Martini, Manuel Molano-Mazón, Miguel Maravall
Neurons in the primary sensory regions of neocortex have heterogeneous response properties. The spatial arrangement of neurons with particular response properties is a key aspect of population representations and can shed light on how local circuits are wired. Here, we investigated how neurons with sensitivity to different kinematic features of whisker stimuli are distributed across local circuits in supragranular layers of the barrel cortex. Using 2-photon calcium population imaging in anesthetized mice, we found that nearby neurons represent diverse kinematic features, providing a rich population representation at the local scale...
February 25, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28334079/how-do-cold-adapted-plants-respond-to-climatic-cycles-interglacial-expansion-explains-current-distribution-and-genomic-diversity-in-primula-farinosa-l
#13
Spyros Theodoridis, Christophe Randin, Peter Szövényi, Florian C Boucher, Theofania S Patsiou, Elena Conti
Understanding the effects of past climatic fluctuations on the distribution and population-size dynamics of cold-adapted species is essential for predicting their responses to ongoing global climate change. In spite of the heterogeneity of cold-adapted species, two main contrasting hypotheses have been proposed to explain their responses to Late Quaternary glacial cycles, namely, the interglacial contraction versus the interglacial expansion hypotheses. Here, we use the cold-adapted plant Primula farinosa to test two demographic models under each of the two alternative hypotheses and a fifth, null model...
December 21, 2016: Systematic Biology
https://www.readbyqxmd.com/read/28333962/different-regulation-of-limb-development-by-p63-transcript-variants
#14
Manabu Kawata, Yuki Taniguchi, Daisuke Mori, Fumiko Yano, Shinsuke Ohba, Ung-Il Chung, Tomomi Shimogori, Alea A Mills, Sakae Tanaka, Taku Saito
The apical ectodermal ridge (AER), located at the distal end of each limb bud, is a key signaling center which controls outgrowth and patterning of the proximal-distal axis of the limb through secretion of various molecules. Fibroblast growth factors (FGFs), particularly Fgf8 and Fgf4, are representative molecules produced by AER cells, and essential to maintain the AER and cell proliferation in the underlying mesenchyme, meanwhile Jag2-Notch pathway negatively regulates the AER and limb development. p63, a transcription factor of the p53 family, is expressed in the AER and indispensable for limb formation...
2017: PloS One
https://www.readbyqxmd.com/read/28333388/central-regulation-of-glucose-homeostasis
#15
Alexander Tups, Jonas Benzler, Domenico Sergi, Sharon R Ladyman, Lynda M Williams
The ability of the brain to directly control glucose levels in the blood independently of its effects on food intake and body weight has been known ever since 1854 when Claude Bernard, a French physiologist, discovered that lesioning the floor of the fourth ventricle in rabbits led to a rise of sugar in the blood. Despite this outstanding discovery at that time, it took more than 140 years before progress started to be made in identifying the underlying mechanisms of brain-mediated control of glucose homeostasis...
March 16, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28333276/genetic-evidence-that-multiple-proteases-are-involved-in-modulation-of-heat-induced-activation-of-the-sigma-factor-sigi-in-bacillus-subtilis
#16
Tai-Yen Liu, Shu-Hung Chu, Yi-Nei Hu, Jyun-Jhih Wang, Gwo-Chyuan Shaw
The Bacillus subtilis sigI-rsgI operon encodes the heat-inducible sigma factor SigI and its cognate anti-sigma factor RsgI. The heat-activated SigI positively regulates expression of sigI itself and genes involved in cell wall homeostasis and heat resistance. It remains unknown which protease(s) may contribute to degradation of RsgI and heat-induced activation of SigI. In this study, we found that transcription of sigI from its σI-dependent promoter under heat stress was downregulated in a strain lacking the heat-inducible sigma factor SigB...
March 8, 2017: FEMS Microbiology Letters
https://www.readbyqxmd.com/read/28333275/anti-m%C3%A3-llerian-hormone-inhibits-activation-and-growth-of-bovine-ovarian-follicles-in-vitro-and-is-localized-to-growing-follicles
#17
M Y Yang, R A Cushman, J E Fortune
STUDY QUESTION: Does anti-Müllerian hormone (AMH) inhibit activation (initiation of growth) of primordial follicles and attenuate the growth of primary follicles in cattle, an excellent animal model for human ovarian follicular development? SUMMARY ANSWER: AMH inhibited activation of bovine primordial follicles and attenuated the growth of activated follicles in vitro. WHAT IS KNOWN ALREADY: In mice null mutant for AMH, the pool of primordial follicles is depleted prematurely and AMH inhibits follicle activation in vitro...
March 17, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28332365/social-and-clinical-characteristics-of-immigrants-with-tuberculosis-in-south-korea
#18
Gee Ho Min, Young Kim, Jong Seok Lee, Jee Youn Oh, Gyu Young Hur, Young Seok Lee, Kyung Hoon Min, Sung Yong Lee, Je Hyeong Kim, Chol Shin, Seung Heon Lee
PURPOSE: To determine the social and clinical characteristics of immigrants with tuberculosis (TB) in South Korea. MATERIALS AND METHODS: The registered adult TB patients who were diagnosed and treated in Korea Medical Centers from January 2013 to December 2015 were analyzed retrospectively. A total of 105 immigrants with TB were compared to 932 native Korean TB patients. RESULTS: Among these 105 immigrants with TB, 86 (82%) were Korean-Chinese...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28331336/gstm1-polymorphism-is-related-to-risks-of-nasopharyngeal-cancer-and-laryngeal-cancer-a-meta-analysis
#19
REVIEW
Fengying Zhang, Xijiang Wu, Jinming Niu, Xiufeng Kang, Liya Cheng, Yanchun Lv, Meimei Wu
BACKGROUND: Accumulating data have reported that GSTM1 polymorphism may be related to nasopharyngeal cancer (NPC) and laryngeal cancer (LC). This meta-analysis was performed to investigate the relationship between GSTM1 polymorphism and risks of NPC and LC. METHODS: Pubmed, Embase, and China National Knowledge Infrastructure (CNKI) databases were searched for potential articles. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the relationship of GSTM1 polymorphism with the risks of NPC and LC...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28331097/loss-of-the-human-cytomegalovirus-us16-protein-abrogates-virus-entry-into-endothelial-and-epithelial-cells-by-reducing-the-virion-content-of-the-pentamer
#20
Anna Luganini, Noemi Cavaletto, Stefania Raimondo, Stefano Geuna, Giorgio Gribaudo
The Human Cytomegalovirus (HCMV) US12 gene family encodes a group of predicted seven-transmembrane proteins whose functions have yet to be established. While inactivation of individual US12 members in laboratory strains of HCMV does not affect viral replication in fibroblasts, disruption of the US16 gene in the low-passage TR strain prevents viral growth in endothelial and epithelial cells. In these cells, the US16-null viruses fail to express IE, E, and L viral proteins due to a defect which occurs prior to IE gene expression...
March 22, 2017: Journal of Virology
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