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https://www.readbyqxmd.com/read/28395810/generation-of-non-integrated-induced-pluripotent-stem-cells-from-a-23-year-old-male-with-multiple-endocrine-neoplasia-type-1-syndrome
#1
Dongsheng Guo, Feima Wu, Haikun Liu, Ge Gao, Shanglong Kou, Fan Yang, Nasir Abbas, Tiancheng Zhou, Xiujuan Cai, Hui Zhang, Dajiang Qin, Jialiang Li, Kecheng Xu, Yin-Xiong Li
Urine resource cells were collected from a 23-year-old male with multiple endocrine neoplasia type 1 syndrome (MEN1) for generating iPS cells with episomal plasmids. Two stable iPSC lines with free of episomal plasmid were established. The patient has a heterozygous G>T mutation on the exon 9 of Men1 gene that was confirmed by sequencing analysis on all resulted cell lines. Karyotyping indicated the chromosomes with normal appearances and numbers. Their pluripotency was demonstrated by gene expression and their abilities for differentiating into three germ layers...
January 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28395809/creating-a-patient-carried-men1-gene-point-mutation-on-wild-type-ipscs-locus-mediated-by-crispr-cas9-and-ssodn
#2
Dongsheng Guo, Haikun Liu, Ge Gao, Yanli Liu, Yuanqi Zhuang, Fan Yang, Kepin Wang, Tiancheng Zhou, Dajiang Qin, Liangqing Hong, Jialiang Li, Kecheng Xu, Yin-Xiong Li
A patient specific point mutation (c.1288G>T) of Men1 gene was introduced into wide type iPSC line with CRISPR/Cas9 and single-stranded donor oligonucleotides carrying the mutation. The mutated iPSC line has a heterozygous c.1288G>T mutation on exon-9 of Men1 that was confirmed by sequencing analysis. The karyotype of this line was normal and the pluripotency was demonstrated by its ability to differentiate into three germ layers. These artificially created Men1 mutation in wild type iPSC line will help to dissect out the molecular basis of two patients carried the same mutation from one family who were differentially represented hypoglycemia...
January 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28395808/generation-of-non-integrated-induced-pluripotent-stem-cells-from-a-59-year-old-female-with-multiple-endocrine-neoplasia-type-1-syndrome
#3
Dongsheng Guo, Feima Wu, Haikun Liu, Ge Gao, Shanglong Kou, Fan Yang, Nasir Abbas, Tiancheng Zhou, Xiujuan Cai, Hui Zhang, Dajiang Qin, Jialiang Li, Kecheng Xu, Yin-Xiong Li
Urine resource cells were collected from a 59-year-old female patient with multiple endocrine neoplasia type 1 syndrome (MEN1) for generating iPS cells with episomal plasmids carrying Oct4, Sox2, Klf4 and miR-302-367. The patient sustained a heterozygous G>T transition mutation on the exon 9 of Men1 gene that was confirmed by sequencing analysis on the obtained iPSC lines. Karyotyping indicated the chromosomes with normal appearances and numbers. Their pluripotency was demonstrated by gene expression, as well as their abilities for differentiating into three germ layers...
January 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28358914/analysis-of-single-nucleotide-variants-of-hfe-gene-and-association-to-survival-in-the-cancer-genome-atlas-gbm-data
#4
Sang Y Lee, Junjia Zhu, Anna C Salzberg, Bo Zhang, Dajiang J Liu, Joshua E Muscat, Sara T Langan, James R Connor
Human hemochromatosis protein (HFE) is involved in iron metabolism. Two major HFE polymorphisms, H63D and C282Y, have been associated with an increased risk of cancers. Previously, we reported decreased gender effects in overall survival based on H63D or C282Y HFE polymorphisms patients with glioblastoma multiforme (GBM). However, the effect of other single nucleotide variation (SNV) in the HFE gene on the cancer development and progression has not been systematically studied. To expand our finding in a larger sample, and to identify other HFE SNV, we analyzed the frequency of somatic SNV in HFE gene and its relationship to survival in GBM patients using The Cancer Genome Atlas (TCGA) GBM (Caucasian only) database...
2017: PloS One
https://www.readbyqxmd.com/read/28267856/association-of-rare-and-common-variation-in-the-lipoprotein-lipase-gene-with-coronary-artery-disease
#5
Amit V Khera, Hong-Hee Won, Gina M Peloso, Colm O'Dushlaine, Dajiang Liu, Nathan O Stitziel, Pradeep Natarajan, Akihiro Nomura, Connor A Emdin, Namrata Gupta, Ingrid B Borecki, Rosanna Asselta, Stefano Duga, Piera Angelica Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, David J Carey, Michael F Murray, H Lester Kirchner, Joseph B Leader, Daniel R Lavage, J Neil Manus, Dustin N Hartzel, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Eric S Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Cristen Willer, Gonçalo R Abecasis, Danish Saleheen, Frederick E Dewey, Sekar Kathiresan
Importance: The activity of lipoprotein lipase (LPL) is the rate-determining step in clearing triglyceride-rich lipoproteins from the circulation. Mutations that damage the LPL gene (LPL) lead to lifelong deficiency in enzymatic activity and can provide insight into the relationship of LPL to human disease. Objective: To determine whether rare and/or common variants in LPL are associated with early-onset coronary artery disease (CAD). Design, Setting, and Participants: In a cross-sectional study, LPL was sequenced in 10 CAD case-control cohorts of the multinational Myocardial Infarction Genetics Consortium and a nested CAD case-control cohort of the Geisinger Health System DiscovEHR cohort between 2010 and 2015...
March 7, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28146470/rare-and-low-frequency-coding-variants-alter-human-adult-height
#6
Eirini Marouli, Mariaelisa Graff, Carolina Medina-Gomez, Ken Sin Lo, Andrew R Wood, Troels R Kjaer, Rebecca S Fine, Yingchang Lu, Claudia Schurmann, Heather M Highland, Sina Rüeger, Gudmar Thorleifsson, Anne E Justice, David Lamparter, Kathleen E Stirrups, Valérie Turcot, Kristin L Young, Thomas W Winkler, Tõnu Esko, Tugce Karaderi, Adam E Locke, Nicholas G D Masca, Maggie C Y Ng, Poorva Mudgal, Manuel A Rivas, Sailaja Vedantam, Anubha Mahajan, Xiuqing Guo, Goncalo Abecasis, Katja K Aben, Linda S Adair, Dewan S Alam, Eva Albrecht, Kristine H Allin, Matthew Allison, Philippe Amouyel, Emil V Appel, Dominique Arveiler, Folkert W Asselbergs, Paul L Auer, Beverley Balkau, Bernhard Banas, Lia E Bang, Marianne Benn, Sven Bergmann, Lawrence F Bielak, Matthias Blüher, Heiner Boeing, Eric Boerwinkle, Carsten A Böger, Lori L Bonnycastle, Jette Bork-Jensen, Michiel L Bots, Erwin P Bottinger, Donald W Bowden, Ivan Brandslund, Gerome Breen, Murray H Brilliant, Linda Broer, Amber A Burt, Adam S Butterworth, David J Carey, Mark J Caulfield, John C Chambers, Daniel I Chasman, Yii-Der Ida Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, Massimiliano Cocca, Francis S Collins, James P Cook, Janie Corley, Jordi Corominas Galbany, Amanda J Cox, Gabriel Cuellar-Partida, John Danesh, Gail Davies, Paul I W de Bakker, Gert J de Borst, Simon de Denus, Mark C H de Groot, Renée de Mutsert, Ian J Deary, George Dedoussis, Ellen W Demerath, Anneke I den Hollander, Joe G Dennis, Emanuele Di Angelantonio, Fotios Drenos, Mengmeng Du, Alison M Dunning, Douglas F Easton, Tapani Ebeling, Todd L Edwards, Patrick T Ellinor, Paul Elliott, Evangelos Evangelou, Aliki-Eleni Farmaki, Jessica D Faul, Mary F Feitosa, Shuang Feng, Ele Ferrannini, Marco M Ferrario, Jean Ferrieres, Jose C Florez, Ian Ford, Myriam Fornage, Paul W Franks, Ruth Frikke-Schmidt, Tessel E Galesloot, Wei Gan, Ilaria Gandin, Paolo Gasparini, Vilmantas Giedraitis, Ayush Giri, Giorgia Girotto, Scott D Gordon, Penny Gordon-Larsen, Mathias Gorski, Niels Grarup, Megan L Grove, Vilmundur Gudnason, Stefan Gustafsson, Torben Hansen, Kathleen Mullan Harris, Tamara B Harris, Andrew T Hattersley, Caroline Hayward, Liang He, Iris M Heid, Kauko Heikkilä, Øyvind Helgeland, Jussi Hernesniemi, Alex W Hewitt, Lynne J Hocking, Mette Hollensted, Oddgeir L Holmen, G Kees Hovingh, Joanna M M Howson, Carel B Hoyng, Paul L Huang, Kristian Hveem, M Arfan Ikram, Erik Ingelsson, Anne U Jackson, Jan-Håkan Jansson, Gail P Jarvik, Gorm B Jensen, Min A Jhun, Yucheng Jia, Xuejuan Jiang, Stefan Johansson, Marit E Jørgensen, Torben Jørgensen, Pekka Jousilahti, J Wouter Jukema, Bratati Kahali, René S Kahn, Mika Kähönen, Pia R Kamstrup, Stavroula Kanoni, Jaakko Kaprio, Maria Karaleftheri, Sharon L R Kardia, Fredrik Karpe, Frank Kee, Renske Keeman, Lambertus A Kiemeney, Hidetoshi Kitajima, Kirsten B Kluivers, Thomas Kocher, Pirjo Komulainen, Jukka Kontto, Jaspal S Kooner, Charles Kooperberg, Peter Kovacs, Jennifer Kriebel, Helena Kuivaniemi, Sébastien Küry, Johanna Kuusisto, Martina La Bianca, Markku Laakso, Timo A Lakka, Ethan M Lange, Leslie A Lange, Carl D Langefeld, Claudia Langenberg, Eric B Larson, I-Te Lee, Terho Lehtimäki, Cora E Lewis, Huaixing Li, Jin Li, Ruifang Li-Gao, Honghuang Lin, Li-An Lin, Xu Lin, Lars Lind, Jaana Lindström, Allan Linneberg, Yeheng Liu, Yongmei Liu, Artitaya Lophatananon, Jian'an Luan, Steven A Lubitz, Leo-Pekka Lyytikäinen, David A Mackey, Pamela A F Madden, Alisa K Manning, Satu Männistö, Gaëlle Marenne, Jonathan Marten, Nicholas G Martin, Angela L Mazul, Karina Meidtner, Andres Metspalu, Paul Mitchell, Karen L Mohlke, Dennis O Mook-Kanamori, Anna Morgan, Andrew D Morris, Andrew P Morris, Martina Müller-Nurasyid, Patricia B Munroe, Mike A Nalls, Matthias Nauck, Christopher P Nelson, Matt Neville, Sune F Nielsen, Kjell Nikus, Pål R Njølstad, Børge G Nordestgaard, Ioanna Ntalla, Jeffrey R O'Connel, Heikki Oksa, Loes M Olde Loohuis, Roel A Ophoff, Katharine R Owen, Chris J Packard, Sandosh Padmanabhan, Colin N A Palmer, Gerard Pasterkamp, Aniruddh P Patel, Alison Pattie, Oluf Pedersen, Peggy L Peissig, Gina M Peloso, Craig E Pennell, Markus Perola, James A Perry, John R B Perry, Thomas N Person, Ailith Pirie, Ozren Polasek, Danielle Posthuma, Olli T Raitakari, Asif Rasheed, Rainer Rauramaa, Dermot F Reilly, Alex P Reiner, Frida Renström, Paul M Ridker, John D Rioux, Neil Robertson, Antonietta Robino, Olov Rolandsson, Igor Rudan, Katherine S Ruth, Danish Saleheen, Veikko Salomaa, Nilesh J Samani, Kevin Sandow, Yadav Sapkota, Naveed Sattar, Marjanka K Schmidt, Pamela J Schreiner, Matthias B Schulze, Robert A Scott, Marcelo P Segura-Lepe, Svati Shah, Xueling Sim, Suthesh Sivapalaratnam, Kerrin S Small, Albert Vernon Smith, Jennifer A Smith, Lorraine Southam, Timothy D Spector, Elizabeth K Speliotes, John M Starr, Valgerdur Steinthorsdottir, Heather M Stringham, Michael Stumvoll, Praveen Surendran, Leen M 't Hart, Katherine E Tansey, Jean-Claude Tardif, Kent D Taylor, Alexander Teumer, Deborah J Thompson, Unnur Thorsteinsdottir, Betina H Thuesen, Anke Tönjes, Gerard Tromp, Stella Trompet, Emmanouil Tsafantakis, Jaakko Tuomilehto, Anne Tybjaerg-Hansen, Jonathan P Tyrer, Rudolf Uher, André G Uitterlinden, Sheila Ulivi, Sander W van der Laan, Andries R Van Der Leij, Cornelia M van Duijn, Natasja M van Schoor, Jessica van Setten, Anette Varbo, Tibor V Varga, Rohit Varma, Digna R Velez Edwards, Sita H Vermeulen, Henrik Vestergaard, Veronique Vitart, Thomas F Vogt, Diego Vozzi, Mark Walker, Feijie Wang, Carol A Wang, Shuai Wang, Yiqin Wang, Nicholas J Wareham, Helen R Warren, Jennifer Wessel, Sara M Willems, James G Wilson, Daniel R Witte, Michael O Woods, Ying Wu, Hanieh Yaghootkar, Jie Yao, Pang Yao, Laura M Yerges-Armstrong, Robin Young, Eleftheria Zeggini, Xiaowei Zhan, Weihua Zhang, Jing Hua Zhao, Wei Zhao, Wei Zhao, He Zheng, Wei Zhou, Jerome I Rotter, Michael Boehnke, Sekar Kathiresan, Mark I McCarthy, Cristen J Willer, Kari Stefansson, Ingrid B Borecki, Dajiang J Liu, Kari E North, Nancy L Heard-Costa, Tune H Pers, Cecilia M Lindgren, Claus Oxvig, Zoltán Kutalik, Fernando Rivadeneira, Ruth J F Loos, Timothy M Frayling, Joel N Hirschhorn, Panos Deloukas, Guillaume Lettre
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors...
February 9, 2017: Nature
https://www.readbyqxmd.com/read/28115622/robust-and-rapid-algorithms-facilitate-large-scale-whole-genome-sequencing-downstream-analysis-in-an-integrative-framework
#7
Miaoxin Li, Jiang Li, Mulin Jun Li, Zhicheng Pan, Jacob Shujui Hsu, Dajiang J Liu, Xiaowei Zhan, Junwen Wang, Youqiang Song, Pak Chung Sham
Whole genome sequencing (WGS) is a promising strategy to unravel variants or genes responsible for human diseases and traits. However, there is a lack of robust platforms for a comprehensive downstream analysis. In the present study, we first proposed three novel algorithms, sequence gap-filled gene feature annotation, bit-block encoded genotypes and sectional fast access to text lines to address three fundamental problems. The three algorithms then formed the infrastructure of a robust parallel computing framework, KGGSeq, for integrating downstream analysis functions for whole genome sequencing data...
January 23, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/27859886/collateral-blood-flow-in-different-cerebrovascular-hierarchy-provides-endogenous-protection-in-cerebral-ischemia
#8
Chuanming Luo, Fengyin Liang, Huixia Ren, Xiaoli Yao, Qiang Liu, Mingyue Li, Dajiang Qin, Ti-Fei Yuan, Zhong Pei, Huanxing Su
Collateral blood flow as vascular adaptions to focal cerebral ischemia is well recognized. However, few studies directly investigate the dynamics of collateral vessel recruitment in vivo and little is known about the effect of collateral blood flow in different cerebrovascular hierarchy on the neuropathology after focal ischemic stroke. Here, we report that collateral blood flow is critically involved in blood vessel compensations following regional ischemia. We occluded a pial arteriole using femtosecond laser ablating under the intact thinned skull and documented the changes of collateral flow around the surface communication network and between the surface communication network and subsurface microcirculation network using in vivo two photon microscopy imaging...
November 15, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27717122/genetic-variants-in-cetp-increase-risk-of-intracerebral-hemorrhage
#9
Christopher D Anderson, Guido J Falcone, Chia-Ling Phuah, Farid Radmanesh, H Bart Brouwers, Thomas W K Battey, Alessandro Biffi, Gina M Peloso, Dajiang J Liu, Alison M Ayres, Joshua N Goldstein, Anand Viswanathan, Steven M Greenberg, Magdy Selim, James F Meschia, Devin L Brown, Bradford B Worrall, Scott L Silliman, David L Tirschwell, Matthew L Flaherty, Peter Kraft, Jeremiasz M Jagiella, Helena Schmidt, Björn M Hansen, Jordi Jimenez-Conde, Eva Giralt-Steinhauer, Roberto Elosua, Elisa Cuadrado-Godia, Carolina Soriano, Koen M van Nieuwenhuizen, Catharina J M Klijn, Kristiina Rannikmae, Neshika Samarasekera, Rustam Al-Shahi Salman, Catherine L Sudlow, Ian J Deary, Andrea Morotti, Alessandro Pezzini, Joanna Pera, Andrzej Urbanik, Alexander Pichler, Christian Enzinger, Bo Norrving, Joan Montaner, Israel Fernandez-Cadenas, Pilar Delgado, Jaume Roquer, Arne Lindgren, Agnieszka Slowik, Reinhold Schmidt, Chelsea S Kidwell, Steven J Kittner, Salina P Waddy, Carl D Langefeld, Goncalo Abecasis, Cristen J Willer, Sekar Kathiresan, Daniel Woo, Jonathan Rosand
OBJECTIVE: In observational epidemiologic studies, higher plasma high-density lipoprotein cholesterol (HDL-C) has been associated with increased risk of intracerebral hemorrhage (ICH). DNA sequence variants that decrease cholesteryl ester transfer protein (CETP) gene activity increase plasma HDL-C; as such, medicines that inhibit CETP and raise HDL-C are in clinical development. Here, we test the hypothesis that CETP DNA sequence variants associated with higher HDL-C also increase risk for ICH...
November 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27702986/gadd45a-is-a-heterochromatin-relaxer-that-enhances-ips-cell-generation
#10
Keshi Chen, Qi Long, Tao Wang, Danyun Zhao, Yanshuang Zhou, Juntao Qi, Yi Wu, Shengbiao Li, Chunlan Chen, Xiaoming Zeng, Jianguo Yang, Zisong Zhou, Weiwen Qin, Xiyin Liu, Yuxing Li, Yingying Li, Xiaofen Huang, Dajiang Qin, Jiekai Chen, Guangjin Pan, Hans R Schöler, Guoliang Xu, Xingguo Liu, Duanqing Pei
Reprogramming of somatic cells to induced pluripotent stem cells rewrites the code of cell fate at the chromatin level. Yet, little is known about this process physically. Here, we describe a fluorescence recovery after photobleaching method to assess the dynamics of heterochromatin/euchromatin and show significant heterochromatin loosening at the initial stage of reprogramming. We identify growth arrest and DNA damage-inducible protein a (Gadd45a) as a chromatin relaxer in mouse embryonic fibroblasts, which also enhances somatic cell reprogramming efficiency...
November 2016: EMBO Reports
https://www.readbyqxmd.com/read/27392709/lp-pla2-silencing-protects-against-ox-ldl-induced-oxidative-stress-and-cell-apoptosis-via-akt-mtor-signaling-pathway-in-human-thp1-macrophages
#11
HuaDong Zheng, DaJiang Cui, XiaoJuan Quan, WeiLin Yang, YingNa Li, Lin Zhang, EnQi Liu
Atherosclerosis is a disease of the large- and medium-size arteries that is characterized by the formation of atherosclerotic plaques, in which foam cells are the characteristic pathological cells. However, the key underlying pathomechanisms are still not fully elucidated. In this study, we investigated the role of lipoprotein-associated phospholipase A2 (Lp-PLA2) in ox-LDL-induced oxidative stress and cell apoptosis, and further, elucidated the potential machanisms in human THP1 macrophages. Flow cytometry and western blot analyses showed that both cell apoptosis and Lp-PLA2 expression were dose-dependently elevated after ox-LDL treatment for 24 h and also time-dependently increased after 50 mg/L ox-LDL incubation in THP1 macrophages...
September 2, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27346686/platelet-related-variants-identified-by-exomechip-meta-analysis-in-157-293-individuals
#12
John D Eicher, Nathalie Chami, Tim Kacprowski, Akihiro Nomura, Ming-Huei Chen, Lisa R Yanek, Salman M Tajuddin, Ursula M Schick, Andrew J Slater, Nathan Pankratz, Linda Polfus, Claudia Schurmann, Ayush Giri, Jennifer A Brody, Leslie A Lange, Ani Manichaikul, W David Hill, Raha Pazoki, Paul Elliot, Evangelos Evangelou, Ioanna Tzoulaki, He Gao, Anne-Claire Vergnaud, Rasika A Mathias, Diane M Becker, Lewis C Becker, Amber Burt, David R Crosslin, Leo-Pekka Lyytikäinen, Kjell Nikus, Jussi Hernesniemi, Mika Kähönen, Emma Raitoharju, Nina Mononen, Olli T Raitakari, Terho Lehtimäki, Mary Cushman, Neil A Zakai, Deborah A Nickerson, Laura M Raffield, Rakale Quarells, Cristen J Willer, Gina M Peloso, Goncalo R Abecasis, Dajiang J Liu, Panos Deloukas, Nilesh J Samani, Heribert Schunkert, Jeanette Erdmann, Myriam Fornage, Melissa Richard, Jean-Claude Tardif, John D Rioux, Marie-Pierre Dube, Simon de Denus, Yingchang Lu, Erwin P Bottinger, Ruth J F Loos, Albert Vernon Smith, Tamara B Harris, Lenore J Launer, Vilmundur Gudnason, Digna R Velez Edwards, Eric S Torstenson, Yongmei Liu, Russell P Tracy, Jerome I Rotter, Stephen S Rich, Heather M Highland, Eric Boerwinkle, Jin Li, Ethan Lange, James G Wilson, Evelin Mihailov, Reedik Mägi, Joel Hirschhorn, Andres Metspalu, Tõnu Esko, Caterina Vacchi-Suzzi, Mike A Nalls, Alan B Zonderman, Michele K Evans, Gunnar Engström, Marju Orho-Melander, Olle Melander, Michelle L O'Donoghue, Dawn M Waterworth, Lars Wallentin, Harvey D White, James S Floyd, Traci M Bartz, Kenneth M Rice, Bruce M Psaty, J M Starr, David C M Liewald, Caroline Hayward, Ian J Deary, Andreas Greinacher, Uwe Völker, Thomas Thiele, Henry Völzke, Frank J A van Rooij, André G Uitterlinden, Oscar H Franco, Abbas Dehghan, Todd L Edwards, Santhi K Ganesh, Sekar Kathiresan, Nauder Faraday, Paul L Auer, Alex P Reiner, Guillaume Lettre, Andrew D Johnson
Platelet production, maintenance, and clearance are tightly controlled processes indicative of platelets' important roles in hemostasis and thrombosis. Platelets are common targets for primary and secondary prevention of several conditions. They are monitored clinically by complete blood counts, specifically with measurements of platelet count (PLT) and mean platelet volume (MPV). Identifying genetic effects on PLT and MPV can provide mechanistic insights into platelet biology and their role in disease. Therefore, we formed the Blood Cell Consortium (BCX) to perform a large-scale meta-analysis of Exomechip association results for PLT and MPV in 157,293 and 57,617 individuals, respectively...
July 7, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27153000/rvtests-an-efficient-and-comprehensive-tool-for-rare-variant-association-analysis-using-sequence-data
#13
Xiaowei Zhan, Youna Hu, Bingshan Li, Goncalo R Abecasis, Dajiang J Liu
MOTIVATION: Next-generation sequencing technologies have enabled the large-scale assessment of the impact of rare and low-frequency genetic variants for complex human diseases. Gene-level association tests are often performed to analyze rare variants, where multiple rare variants in a gene region are analyzed jointly. Applying gene-level association tests to analyze sequence data often requires integrating multiple heterogeneous sources of information (e.g. annotations, functional prediction scores, allele frequencies, genotypes and phenotypes) to determine the optimal analysis unit and prioritize causal variants...
May 1, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27054276/group-wise-consistent-cortical-parcellation-based-on-connectional-profiles
#14
Tuo Zhang, Dajiang Zhu, Xi Jiang, Shu Zhang, Zhifeng Kou, Lei Guo, Tianming Liu
For decades, seeking common, consistent and corresponding anatomical/functional regions across individual brains via cortical parcellation has been a longstanding challenging problem. In our opinion, two major barriers to solve this problem are determining meaningful cortical boundaries that segregate homogeneous regions and establishing correspondences among parcellated regions of multiple brains. To establish a corresponding system across subjects, we recently developed the Dense Individualized and Common Connectivity-based Cortical Landmarks (DICCCOL) system which possesses group-wise consistent white matter fiber connection patterns across individuals and thus provides a dense map of corresponding cortical landmarks...
August 2016: Medical Image Analysis
https://www.readbyqxmd.com/read/27011505/modified-innervated-radial-collateral-artery-perforator-flap-for-repairing-digital-defects
#15
Dajiang Song, Jinsong Li, Kuangwen Li, Jun Liu, Jian Xu
The authors presented their clinical experience and demonstrated surgical methods to reconstruct soft-tissue defects in the digit by using modified innervated radial collateral artery perforator flap. Surgical procedures that involved 12 modified innervated radial collateral artery perforator flaps were performed in 12 patients. Among the patients, two had defects in the thumbs, six had defects in the index fingers, whereas two had defects in the middle fingers, two had defects in the little fingers. The flaps ranged in size from 5...
December 2015: Indian Journal of Surgery
https://www.readbyqxmd.com/read/27011476/use-of-free-modified-innervated-posterior-interosseous-artery-perforator-flap-to-repair-digital-skin-and-soft-tissue-defects
#16
Jun Liu, Dajiang Song, Jian Xu, Jinsong Li, Kuangwen Li, Hongbin Lv
Current techniques to reconstruct soft tissue of the fingers result in scarring and functional deficits. Perforator flaps raised on the posterior interosseous artery are thin and well vascularised, and cause minimal donor site scarring. Using a flap with sensory nerves was hoped to contribute to the desired postoperative sensory recovery of fingers. We used modified innervated posterior interosseous perforator flaps to repair digital defects in 18 patients. Injuries included digit amputations and palmar soft tissue defects...
December 2015: Indian Journal of Surgery
https://www.readbyqxmd.com/read/26965621/rare-variant-in-scavenger-receptor-bi-raises-hdl-cholesterol-and-increases-risk-of-coronary-heart-disease
#17
Paolo Zanoni, Sumeet A Khetarpal, Daniel B Larach, William F Hancock-Cerutti, John S Millar, Marina Cuchel, Stephanie DerOhannessian, Anatol Kontush, Praveen Surendran, Danish Saleheen, Stella Trompet, J Wouter Jukema, Anton De Craen, Panos Deloukas, Naveed Sattar, Ian Ford, Chris Packard, Abdullah al Shafi Majumder, Dewan S Alam, Emanuele Di Angelantonio, Goncalo Abecasis, Rajiv Chowdhury, Jeanette Erdmann, Børge G Nordestgaard, Sune F Nielsen, Anne Tybjærg-Hansen, Ruth Frikke Schmidt, Kari Kuulasmaa, Dajiang J Liu, Markus Perola, Stefan Blankenberg, Veikko Salomaa, Satu Männistö, Philippe Amouyel, Dominique Arveiler, Jean Ferrieres, Martina Müller-Nurasyid, Marco Ferrario, Frank Kee, Cristen J Willer, Nilesh Samani, Heribert Schunkert, Adam S Butterworth, Joanna M M Howson, Gina M Peloso, Nathan O Stitziel, John Danesh, Sekar Kathiresan, Daniel J Rader
Scavenger receptor BI (SR-BI) is the major receptor for high-density lipoprotein (HDL) cholesterol (HDL-C). In humans, high amounts of HDL-C in plasma are associated with a lower risk of coronary heart disease (CHD). Mice that have depleted Scarb1 (SR-BI knockout mice) have markedly elevated HDL-C levels but, paradoxically, increased atherosclerosis. The impact of SR-BI on HDL metabolism and CHD risk in humans remains unclear. Through targeted sequencing of coding regions of lipid-modifying genes in 328 individuals with extremely high plasma HDL-C levels, we identified a homozygote for a loss-of-function variant, in which leucine replaces proline 376 (P376L), in SCARB1, the gene encoding SR-BI...
March 11, 2016: Science
https://www.readbyqxmd.com/read/26711822/-comparison-of-minimally-invasive-using-a-tubular-retraction-system-versus-open-transforaminal-lumbar-interbody-fusion-for-the-treatment-of-lumbar-degenerative-diseases
#18
RANDOMIZED CONTROLLED TRIAL
Zhiping Luo, Haiqun Rao, Dajiang Huang, Guoyong Li, Chao Liu, Shuanghai Dong, Jiwei Tian
OBJECTIVE: To compare the clinical effect of minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) using a tubular retraction system with traditional transforaminal lumbar interbody fusion (TLIF) for the treatment of lumbar degenerative diseases. METHOD: From June 2009 to June 2013, a total of 96 patients in Department of Orthopaedics, Armed Police Jiangxi Corps Hospital, suffering from lumbar degenerative diseases were divided into 2 groups randomly...
September 1, 2015: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/26559266/surgical-versus-conservative-intervention-for-acute-achilles-tendon-rupture-a-prisma-compliant-systematic-review-of-overlapping-meta-analyses
#19
REVIEW
Hao Zhang, Hao Tang, Qianyun He, Qiang Wei, Dake Tong, Chuangfeng Wang, Dajiang Wu, Guangchao Wang, Xin Zhang, Wenbin Ding, Di Li, Chen Ding, Kang Liu, Fang Ji
Although many meta-analyses comparing surgical intervention with conservative treatment have been conducted for acute Achilles tendon rupture, discordant conclusions are shown. This study systematically reviewed the overlapping meta-analyses relating to surgical versus conservative intervention of acute Achilles tendon rupture to assist decision makers select among conflicting meta-analyses, and to offer intervention recommendations based on the currently best evidence.Multiple databases were comprehensively searched for meta-analyses comparing surgical with conservative treatment of acute Achilles tendon rupture...
November 2015: Medicine (Baltimore)
https://www.readbyqxmd.com/read/26544530/complete-mitochondrial-genome-of-stummer-s-racerunner-eremias-stummeri-from-kazakhstan
#20
Tianhe Zhou, Dajiang Li, Tatjana N Dujsebayeva, Jinlong Liu, Xianguang Guo
The whole mitochondrial genome was determined from a viviparous racerunner, Eremias stummeri, which was collected from southeast Kazakhstan. The mitogenome sequence was 19 602 bp in size, containing 13 protein-coding genes, 22 tRNA genes, 2 rRNA genes and a control region, which is similar to the typical mtDNA of vertebrates. Mitochondrial genomes analyses using maximum parsimony and Bayesian analyses yielded identical phylogenetic trees, indicating a close phylogenetic affinity of the sampled taxa in genus Eremias...
November 2016: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
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