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https://www.readbyqxmd.com/read/28747752/erratum-large-scale-analyses-of-common-and-rare-variants-identify-12-new-loci-associated-with-atrial-fibrillation
#1
Ingrid E Christophersen, Michiel Rienstra, Carolina Roselli, Xiaoyan Yin, Bastiaan Geelhoed, John Barnard, Honghuang Lin, Dan E Arking, Albert V Smith, Christine M Albert, Mark Chaffin, Nathan R Tucker, Molong Li, Derek Klarin, Nathan A Bihlmeyer, Siew-Kee Low, Peter E Weeke, Martina Müller-Nurasyid, J Gustav Smith, Jennifer A Brody, Maartje N Niemeijer, Marcus Dörr, Stella Trompet, Jennifer Huffman, Stefan Gustafsson, Claudia Schurmann, Marcus E Kleber, Leo-Pekka Lyytikäinen, Ilkka Seppälä, Rainer Malik, Andrea R V R Horimoto, Marco Perez, Juha Sinisalo, Stefanie Aeschbacher, Sébastien Thériault, Jie Yao, Farid Radmanesh, Stefan Weiss, Alexander Teumer, Seung Hoan Choi, Lu-Chen Weng, Sebastian Clauss, Rajat Deo, Daniel J Rader, Svati H Shah, Albert Sun, Jemma C Hopewell, Stephanie Debette, Ganesh Chauhan, Qiong Yang, Bradford B Worrall, Guillaume Paré, Yoichiro Kamatani, Yanick P Hagemeijer, Niek Verweij, Joylene E Siland, Michiaki Kubo, Jonathan D Smith, David R Van Wagoner, Joshua C Bis, Siegfried Perz, Bruce M Psaty, Paul M Ridker, Jared W Magnani, Tamara B Harris, Lenore J Launer, M Benjamin Shoemaker, Sandosh Padmanabhan, Jeffrey Haessler, Traci M Bartz, Melanie Waldenberger, Peter Lichtner, Marina Arendt, Jose E Krieger, Mika Kähönen, Lorenz Risch, Alfredo J Mansur, Annette Peters, Blair H Smith, Lars Lind, Stuart A Scott, Yingchang Lu, Erwin B Bottinger, Jussi Hernesniemi, Cecilia M Lindgren, Jorge A Wong, Jie Huang, Markku Eskola, Andrew P Morris, Ian Ford, Alex P Reiner, Graciela Delgado, Lin Y Chen, Yii-Der Ida Chen, Roopinder K Sandhu, Man Li, Eric Boerwinkle, Lewin Eisele, Lars Lannfelt, Natalia Rost, Christopher D Anderson, Kent D Taylor, Archie Campbell, Patrik K Magnusson, David Porteous, Lynne J Hocking, Efthymia Vlachopoulou, Nancy L Pedersen, Kjell Nikus, Marju Orho-Melander, Anders Hamsten, Jan Heeringa, Joshua C Denny, Jennifer Kriebel, Dawood Darbar, Christopher Newton-Cheh, Christian Shaffer, Peter W Macfarlane, Stefanie Heilmann-Heimbach, Peter Almgren, Paul L Huang, Nona Sotoodehnia, Elsayed Z Soliman, Andre G Uitterlinden, Albert Hofman, Oscar H Franco, Uwe Völker, Karl-Heinz Jöckel, Moritz F Sinner, Henry J Lin, Xiuqing Guo, Martin Dichgans, Erik Ingelsson, Charles Kooperberg, Olle Melander, Ruth J F Loos, Jari Laurikka, David Conen, Jonathan Rosand, Pim van der Harst, Marja-Liisa Lokki, Sekar Kathiresan, Alexandre Pereira, J Wouter Jukema, Caroline Hayward, Jerome I Rotter, Winfried März, Terho Lehtimäki, Bruno H Stricker, Mina K Chung, Stephan B Felix, Vilmundur Gudnason, Alvaro Alonso, Dan M Roden, Stefan Kääb, Daniel I Chasman, Susan R Heckbert, Emelia J Benjamin, Toshihiro Tanaka, Kathryn L Lunetta, Steven A Lubitz, Patrick T Ellinor
No abstract text is available yet for this article.
July 27, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28747441/brain-hemorrhage-recurrence-small-vessel-disease-type-and-cerebral-microbleeds-a-meta-analysis
#2
Andreas Charidimou, Toshio Imaizumi, Solene Moulin, Alexandro Biffi, Neshika Samarasekera, Yusuke Yakushiji, Andre Peeters, Yves Vandermeeren, Patrice Laloux, Jean-Claude Baron, Mar Hernandez-Guillamon, Joan Montaner, Barbara Casolla, Simone M Gregoire, Dong-Wha Kang, Jong S Kim, H Naka, Eric E Smith, Anand Viswanathan, Hans R Jäger, Rustam Al-Shahi Salman, Steven M Greenberg, Charlotte Cordonnier, David J Werring
OBJECTIVE: We evaluated recurrent intracerebral hemorrhage (ICH) risk in ICH survivors, stratified by the presence, distribution, and number of cerebral microbleeds (CMBs) on MRI (i.e., the presumed causal underlying small vessel disease and its severity). METHODS: This was a meta-analysis of prospective cohorts following ICH, with blood-sensitive brain MRI soon after ICH. We estimated annualized recurrent symptomatic ICH rates for each study and compared pooled odds ratios (ORs) of recurrent ICH by CMB presence/absence and presumed etiology based on CMB distribution (strictly lobar CMBs related to probable or possible cerebral amyloid angiopathy [CAA] vs non-CAA) and burden (1, 2-4, 5-10, and >10 CMBs), using random effects models...
July 26, 2017: Neurology
https://www.readbyqxmd.com/read/28742967/molybdenum-0-dihapto-coordination-of-benzene-and-trifluorotoluene-the-stabilizing-and-chemo-directing-influence-of-a-cf3-group
#3
Jeffery T Myers, Jacob A Smith, Steven J Dakermanji, Justin H Wilde, Katy B Wilson, Philip J Shivokevich, W Dean Harman
The preparation of the complex TpMo(NO)(DMAP)(η2-PhCF3) (5) and TpMo(NO)(DMAP)(η2-benzene) (3) are described. The CF3 group is found to stabilize the metal-arene bond strength in 5 by roughly 3 kcal/mol, compared to 3, allowing the large-scale synthesis and isolation of the trifluorotoluene analog (5, 37 g, 70%). When a benzene solution of 5 is allowed to stand, clean conversion to the benzene analog 3 occurs, and this complex may be precipitated from solution upon the addition of pentane, and isolated...
July 25, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28742724/epidemiology-of-noninvasive-ventilation-in-pediatric-cardiac-icus
#4
Ryan A Romans, Steven M Schwartz, John M Costello, Nikhil K Chanani, Parthak Prodhan, Avihu Z Gazit, Andrew H Smith, David S Cooper, Jeffrey Alten, Kshitij P Mistry, Wenying Zhang, Janet E Donohue, Michael Gaies
OBJECTIVE: To describe the epidemiology of noninvasive ventilation therapy for patients admitted to pediatric cardiac ICUs and to assess practice variation across hospitals. DESIGN: Retrospective cohort study using prospectively collected clinical registry data. SETTING: Pediatric Cardiac Critical Care Consortium clinical registry. PATIENTS: Patients admitted to cardiac ICUs at PC4 hospitals. INTERVENTIONS: None...
July 22, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28740822/neurological-soft-signs-effects-of-trait-schizotypy-psychological-distress-and-auditory-hallucination-predisposition
#5
Saskia de Leede-Smith, Steven Roodenrys, Lauren Horsley, Shannen Matrini, Erin Mison, Emma Barkus
Schizotypy is regarded as a trait vulnerability for psychotic disorders, yet alone is insufficient for development of a diagnosable disorder. Additional symptoms and psychological distress are necessary for help seeking and transition from an at risk mental state to a clinical diagnosis. The present study investigated the interaction between trait schizotypy, state auditory verbal hallucination (AVH) predisposition, distress and handedness for the expression of neurological soft signs (NSS), a neurodevelopmental vulnerability factor for psychosis...
March 2017: Schizophrenia Research. Cognition
https://www.readbyqxmd.com/read/28739199/results-of-the-first-american-prospective-study-of-intravenous-iron-in-oral-iron-intolerant-iron-deficient-gravidas
#6
Michael Auerbach, Stephanie E James, Melissa Nicoletti, Steven Lenowitz, Nicola London, Huzefa F Bahrain, Richard Derman, Samuel Smith
BACKGROUND: Anemia affects up to 42% of gravidas. Neonatal iron deficiency is associated with low birth weight, delayed growth and development, and increased cognitive and behavioral abnormalities. While oral iron is convenient, up to 70% report significant gastrointestinal toxicity. Intravenous iron formulations allowing replacement in one visit with favorable side-effect profiles decrease rates of anemia with improved hemoglobin responses and maternal fetal outcomes. METHODS: 74 oral iron intolerant, 2(nd) and 3(rd) trimester iron deficient gravidas were questioned for oral iron intolerance and treated with intravenous iron...
July 21, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28737946/structure-guided-optimization-of-hiv-integrase-strand-transfer-inhibitors
#7
Xue Zhi Zhao, Steven J Smith, Daniel P Maskell, Mathieu Métifiot, Valerie E Pye, Katherine Fesen, Christophe Marchand, Yves Pommier, Peter Cherepanov, Stephen H Hughes, Terrence R Burke
Integrase mutations can reduce effectiveness of the first-generation FDA-approved integrase strand transfer inhibitors (INSTIs), raltegravir (RAL) and elvitegravir (EVG). The second-generation agent, dolutegravir (DTG) has enjoyed considerable clinical success; however, resistance-causing mutations that diminish the efficacy of DTG have appeared. Our current findings support and extend the substrate envelope concept that broadly effective INSTIs can be designed by filling the envelope defined by the DNA substrates...
July 24, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28737503/directional-connectivity-in-the-eeg-is-able-to-discriminate-wakefulness-from-nrem-sleep
#8
Giulia Lioi, Steven L Bell, David C Smith, David M Simpson
A reliable measure of consciousness is of great interest for various clinical applications including sleep studies and the assessment of depth of anaesthesia. A number of measures of consciousness based on the EEG have been proposed in the literature and tested in studies of dreamless sleep, general anaesthesia and disorders of consciousness. However, reliability has remained a persistent challenge. Despite considerable theoretical and experimental effort, the neural mechanisms underlying consciousness remain unclear, but connectivity between brain regions is thought to be disrupted, impairing information flow...
July 24, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28733735/laparoscopic-repair-of-giant-paraesophageal-hernia-are-there-factors-associated-with-anatomic-recurrence
#9
Michael Antiporda, Benjamin Veenstra, Chloe Jackson, Pujan Kandel, C Daniel Smith, Steven P Bowers
BACKGROUND: Repair of giant paraesophageal hernia (PEH) is associated with a favorably high rate of symptom improvement; however, rates of recurrence by objective measures remain high. Herein we analyze our experience with laparoscopic giant PEH repair to determine what factors if any can predict anatomic recurrence. METHODS: We prospectively collected data on PEH characteristics, variations in operative techniques, and surgeon factors for 595 patients undergoing laparoscopic PEH repair from 2008 to 2015...
July 21, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28733033/discovery-of-small-molecule-inhibitors-for-the-c-elegans-caspase-ced-3-by-high-throughput-screening
#10
Scott Brantley, Steven W Cotten, David R Lamson, Ginger R Smith, Rihe Liu, Kevin P Williams
C.elegans has been widely used as a model organism for programmed cell death and apoptosis. Although, the CED-3 caspase is the primary effector of cell death in C. elegans, no selective inhibitors have been identified. Utilizing high-throughput screening with recombinant C. elegans CED-3 protein, we have discovered and confirmed 21 novel small molecule inhibitors. Six compounds had IC50 values < 10 μM. From these, four distinct chemotypes were identified. The inhibitor scaffolds described here could lead to the development of selective molecular probes to facilitate our understanding of programmed cell death in this model organism...
July 18, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28730267/phantom-based-standardization-of-ct-angiography-images-for-spot-sign-detection
#11
Andrea Morotti, Javier M Romero, Michael J Jessel, Andrew M Hernandez, Anastasia Vashkevich, Kristin Schwab, Joseph D Burns, Qaisar A Shah, Thomas A Bergman, M Fareed K Suri, Mustapha Ezzeddine, Jawad F Kirmani, Sachin Agarwal, Angela Hays Shapshak, Steven R Messe, Chitra Venkatasubramanian, Katherine Palmieri, Christopher Lewandowski, Tiffany R Chang, Ira Chang, David Z Rose, Wade Smith, Chung Y Hsu, Chun-Lin Liu, Li-Ming Lien, Chen-Yu Hsiao, Toru Iwama, Mohammad Rauf Afzal, Christy Cassarly, Steven M Greenberg, Renee' Hebert Martin, Adnan I Qureshi, Jonathan Rosand, John M Boone, Joshua N Goldstein
PURPOSE: The CT angiography (CTA) spot sign is a strong predictor of hematoma expansion in intracerebral hemorrhage (ICH). However, CTA parameters vary widely across centers and may negatively impact spot sign accuracy in predicting ICH expansion. We developed a CT iodine calibration phantom that was scanned at different institutions in a large multicenter ICH clinical trial to determine the effect of image standardization on spot sign detection and performance. METHODS: A custom phantom containing known concentrations of iodine was designed and scanned using the stroke CT protocol at each institution...
July 20, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28729440/the-transcription-factor-foxg1-promotes-optic-fissure-closure-in-the-mouse-by-suppressing-wnt8b-in-the-nasal-optic-stalk
#12
Rowena Smith, Yu-Ting Huang, Tian Tian, Dominika Vojtasova, Oscar Mesalles-Naranjo, Steven M Pollard, Thomas Pratt, David J Price, Vassiliki Fotaki
During vertebrate eye morphogenesis a transient fissure forms at its inferior part, known as the optic fissure. This will gradually close giving rise to a healthy, spherical optic cup. Failure of the optic fissure to close gives rise to an ocular disorder known as coloboma. During this developmental process Foxg1 is expressed in the optic neuroepithelium, with highest levels of expression in the nasal optic stalk. Foxg1-/- mutant mice have microphthalmic eyes with a large ventral coloboma. We found Wnt8b expression upregulated in the Foxg1-/- optic stalk and hypothesized that, similar to what is observed in telencephalic development, Foxg1 directs development of the optic neuroepithelium through transcriptional suppression of Wnt8b To test this, we generated Foxg1-/-;Wnt8b-/- double mutants of either sex and found that the morphology of the optic cup and stalk and the closure of the optic fissure were substantially rescued in these embryos...
July 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28729405/super-enhancer-analysis-defines-novel-epigenomic-subtypes-of-non-apl-aml-including-an-rar%C3%AE-dependency-targetable-by-sy-1425-a-potent-and-selective-rar%C3%AE-agonist
#13
Michael R McKeown, M Ryan Corces, Matthew L Eaton, Chris Fiore, Emily Lee, Jeremy T Lopez, Mei Wei Chen, Darren Smith, Steven M Chan, Julie L Koenig, Kathryn Austgen, Matt G Guenther, David A Orlando, Jakob Lovén, Christian C Fritz, Ravindra Majeti
We characterized the enhancer landscape of 66 AML patients, identifying 6 novel subgroups and their associated regulatory loci. These subgroups are defined by their super-enhancer (SE) maps, orthogonal to somatic mutations, and are associated with distinct leukemic cell states. Examination of transcriptional drivers for these epigenomic subtypes uncovers a subset of patients with a particularly strong super-enhancer at the retinoic acid receptor alpha (RARA) gene locus. Presence of a RARA SE and concomitant high levels of RARA mRNA predisposes cell lines and ex vivo models to exquisite sensitivity to a selective agonist of RARα, SY-1425 (tamibarotene)...
July 20, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28727487/improving-care-with-a-portfolio-of-physician-led-cancer-quality-measures-at-an-academic-center
#14
Julie Bryar Porter, Eben Lloyd Rosenthal, Marcy Winget, Andrea Segura Smith, Sridhar Belavadi Seshadri, Yohan Vetteth, Eileen F Kiamanesh, Amogh Badwe, Ranjana H Advani, Mark K Buyyounouski, Steven Coutre, Frederick Dirbas, Vasu Divi, Oliver Dorigo, Kristen N Ganjoo, Laura J Johnston, Lawrence David Recht, Joseph B Shrager, Eila C Skinner, Susan M Swetter, Brendan C Visser, Douglas W Blayney
PURPOSE: Development and implementation of robust reporting processes to systematically provide quality data to care teams in a timely manner is challenging. National cancer quality measures are useful, but the manual data collection required is resource intensive, and reporting is delayed. We designed a largely automated measurement system with our multidisciplinary cancer care programs (CCPs) to identify, measure, and improve quality metrics that were meaningful to the care teams and their patients...
July 20, 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28726313/selectivity-enhancements-in-gel-based-dna-nanoparticle-assays-by-membrane-induced-isotachophoresis-thermodynamics-versus-kinetics
#15
Steven Marczak, Elaine Smith, Satyajyoti Senapati, Hsueh-Chia Chang
Selectivity against mutant nontargets with a few mismatches remains challenging in nucleic acid sensing. Sensitivity enhancement by analyte concentration does not improve selectivity because it affects targets and nontargets equally. Hydrodynamic or electrical shear enhanced selectivity is often accompanied by substantial losses in target signals, thereby leading to poor limits of detection. We introduce a platform based on depletion isotachophoresis in agarose gel generated by an ion-selective membrane that allows both selectivity and sensitivity enhancement with a two-step assay involving concentration polarization at an ion-selective membrane...
July 20, 2017: Electrophoresis
https://www.readbyqxmd.com/read/28725902/impact-of-grape-pomace-consumption-on-the-blood-lipid-profile-and-liver-genes-associated-with-lipid-metabolism-of-young-rats
#16
Jianmei Yu, Rishipal R Bansode, Ivy N Smith, Steven L Hurley
Herein, we investigated the effects of grape pomace (GP) in diet on body weight, blood lipid profile, and expression of liver genes associated with lipid metabolism using a young rat model. In this study, twenty female Sprague-Dawley rats at 7 weeks of age were randomly divided into 4 groups, which were fed modified AIN-93G diets containing 0% (control), 6.9%, 13.8%, and 20.7% of GP for 10 weeks. Feed consumption and body weight were weekly determined. Blood samples were obtained at the beginning and end of the feeding period for cholesterol, alanine aminotransferase (ALT), and glucose analysis...
July 20, 2017: Food & Function
https://www.readbyqxmd.com/read/28725602/transrectal-ultrasound-guided-extraction-of-impacted-prostatic-urethral-calculi-a-simple-alternative-to-endoscopy
#17
Gregory Amend, Jason Gandhi, Noel L Smith, Steven J Weissbart, David A Schulsinger, Gargi Joshi, Sardar Ali Khan
Urethral stones can become impacted in the posterior urethra, typically presenting with varying degrees of acute urinary retention and lower urinary tract symptoms. These are traditionally treated in the inpatient setting, with external urethrotomy or endoscopic push-back of the calculus into the urinary bladder followed by cystolitholapaxy or cystolithotripsy. However, these methods are invasive, involve general anesthesia, and require radiation. In this report, we describe a simple, minimally invasive, and safe alternative technique to visualize and remove impacted prostatic urethral stones under the real-time guidance of transrectal ultrasonography (TRUS)...
June 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/28724990/large-meta-analysis-of-genome-wide-association-studies-identifies-five-loci-for-lean-body-mass
#18
M Carola Zillikens, Serkalem Demissie, Yi-Hsiang Hsu, Laura M Yerges-Armstrong, Wen-Chi Chou, Lisette Stolk, Gregory Livshits, Linda Broer, Toby Johnson, Daniel L Koller, Zoltán Kutalik, Jian'an Luan, Ida Malkin, Janina S Ried, Albert V Smith, Gudmar Thorleifsson, Liesbeth Vandenput, Jing Hua Zhao, Weihua Zhang, Ali Aghdassi, Kristina Åkesson, Najaf Amin, Leslie J Baier, Inês Barroso, David A Bennett, Lars Bertram, Rainer Biffar, Murielle Bochud, Michael Boehnke, Ingrid B Borecki, Aron S Buchman, Liisa Byberg, Harry Campbell, Natalia Campos Obanda, Jane A Cauley, Peggy M Cawthon, Henna Cederberg, Zhao Chen, Nam H Cho, Hyung Jin Choi, Melina Claussnitzer, Francis Collins, Steven R Cummings, Philip L De Jager, Ilja Demuth, Rosalie A M Dhonukshe-Rutten, Luda Diatchenko, Gudny Eiriksdottir, Anke W Enneman, Mike Erdos, Johan G Eriksson, Joel Eriksson, Karol Estrada, Daniel S Evans, Mary F Feitosa, Mao Fu, Melissa Garcia, Christian Gieger, Thomas Girke, Nicole L Glazer, Harald Grallert, Jagvir Grewal, Bok-Ghee Han, Robert L Hanson, Caroline Hayward, Albert Hofman, Eric P Hoffman, Georg Homuth, Wen-Chi Hsueh, Monica J Hubal, Alan Hubbard, Kim M Huffman, Lise B Husted, Thomas Illig, Erik Ingelsson, Till Ittermann, John-Olov Jansson, Joanne M Jordan, Antti Jula, Magnus Karlsson, Kay-Tee Khaw, Tuomas O Kilpeläinen, Norman Klopp, Jacqueline S L Kloth, Heikki A Koistinen, William E Kraus, Stephen Kritchevsky, Teemu Kuulasmaa, Johanna Kuusisto, Markku Laakso, Jari Lahti, Thomas Lang, Bente L Langdahl, Lenore J Launer, Jong-Young Lee, Markus M Lerch, Joshua R Lewis, Lars Lind, Cecilia Lindgren, Yongmei Liu, Tian Liu, Youfang Liu, Östen Ljunggren, Mattias Lorentzon, Robert N Luben, William Maixner, Fiona E McGuigan, Carolina Medina-Gomez, Thomas Meitinger, Håkan Melhus, Dan Mellström, Simon Melov, Karl Michaëlsson, Braxton D Mitchell, Andrew P Morris, Leif Mosekilde, Anne Newman, Carrie M Nielson, Jeffrey R O'Connell, Ben A Oostra, Eric S Orwoll, Aarno Palotie, Stephan Parker, Munro Peacock, Markus Perola, Annette Peters, Ozren Polasek, Richard L Prince, Katri Räikkönen, Stuart H Ralston, Samuli Ripatti, John A Robbins, Jerome I Rotter, Igor Rudan, Veikko Salomaa, Suzanne Satterfield, Eric E Schadt, Sabine Schipf, Laura Scott, Joban Sehmi, Jian Shen, Chan Soo Shin, Gunnar Sigurdsson, Shad Smith, Nicole Soranzo, Alena Stančáková, Elisabeth Steinhagen-Thiessen, Elizabeth A Streeten, Unnur Styrkarsdottir, Karin M A Swart, Sian-Tsung Tan, Mark A Tarnopolsky, Patricia Thompson, Cynthia A Thomson, Unnur Thorsteinsdottir, Emmi Tikkanen, Gregory J Tranah, Jaakko Tuomilehto, Natasja M van Schoor, Arjun Verma, Peter Vollenweider, Henry Völzke, Jean Wactawski-Wende, Mark Walker, Michael N Weedon, Ryan Welch, H-Erich Wichman, Elisabeth Widen, Frances M K Williams, James F Wilson, Nicole C Wright, Weijia Xie, Lei Yu, Yanhua Zhou, John C Chambers, Angela Döring, Cornelia M van Duijn, Michael J Econs, Vilmundur Gudnason, Jaspal S Kooner, Bruce M Psaty, Timothy D Spector, Kari Stefansson, Fernando Rivadeneira, André G Uitterlinden, Nicholas J Wareham, Vicky Ossowski, Dawn Waterworth, Ruth J F Loos, David Karasik, Tamara B Harris, Claes Ohlsson, Douglas P Kiel
Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p < 5 × 10(-8)) or suggestively genome wide (p < 2...
July 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28724617/human-venous-valve-disease-caused-by-mutations-in-foxc2-and-gjc2
#19
Oliver Lyons, Prakash Saha, Christopher Seet, Adam Kuchta, Andrew Arnold, Steven Grover, Victoria Rashbrook, Amélie Sabine, Gema Vizcay-Barrena, Ash Patel, Francesca Ludwinski, Soundrie Padayachee, Tsutomu Kume, Brenda R Kwak, Glen Brice, Sahar Mansour, Pia Ostergaard, Peter Mortimer, Steve Jeffery, Nigel Brown, Taija Makinen, Tatiana V Petrova, Bijan Modarai, Alberto Smith
Venous valves (VVs) prevent venous hypertension and ulceration. We report that FOXC2 and GJC2 mutations are associated with reduced VV number and length. In mice, early VV formation is marked by elongation and reorientation ("organization") of Prox1(hi) endothelial cells by postnatal day 0. The expression of the transcription factors Foxc2 and Nfatc1 and the gap junction proteins Gjc2, Gja1, and Gja4 were temporospatially regulated during this process. Foxc2 and Nfatc1 were coexpressed at P0, and combined Foxc2 deletion with calcineurin-Nfat inhibition disrupted early Prox1(hi) endothelial organization, suggesting cooperative Foxc2-Nfatc1 patterning of these events...
July 19, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28724548/bradykinin-does-not-acutely-sensitize-the-reflex-pressor-response-during-hindlimb-skeletal-muscle-stretch-in-decerebrate-rats
#20
Korynne S Rollins, Joshua R Smith, Peter J Esau, Evan A Kempf, Tyler D Hopkins, Steven W Copp
Hindlimb skeletal muscle stretch (i.e., selective activation of the muscle mechanoreflex) in decerebrate rats evokes reflex increases in blood pressure and sympathetic nerve activity. Bradykinin has been found to sensitize mechano-gated channels through a bradykinin B2 receptor-dependent mechanism. Moreover, bradykinin B2 receptor expression on sensory neurons is increased following chronic femoral artery ligation in the rat (a model of simulated peripheral artery disease). We tested the hypothesis that, in decerebrate, unanesthetized rats, the injection of bradykinin into the arterial supply of a hindlimb would acutely augment (i...
July 19, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
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