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Blakemore S J

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https://www.readbyqxmd.com/read/27890934/egr2-mutations-define-a-new-clinically-aggressive-subgroup-of-chronic-lymphocytic-leukemia
#1
E Young, D Noerenberg, L Mansouri, V Ljungström, M Frick, L-A Sutton, S J Blakemore, J Galan-Sousa, K Plevova, P Baliakas, D Rossi, R Clifford, D Roos-Weil, V Navrkalova, B Dörken, C A Schmitt, K E Smedby, G Juliusson, B Giacopelli, J S Blachly, C Belessi, P Panagiotidis, N Chiorazzi, F Davi, A W Langerak, D Oscier, A Schuh, G Gaidano, P Ghia, W Xu, L Fan, O A Bernard, F Nguyen-Khac, L Rassenti, J Li, T J Kipps, K Stamatopoulos, S Pospisilova, T Zenz, C C Oakes, J C Strefford, R Rosenquist, F Damm
Recurrent mutations within EGR2 were recently reported in advanced-stage chronic lymphocytic leukemia (CLL) patients and associated with a worse outcome. To study their prognostic impact, 2403 CLL patients were examined for mutations in the EGR2 hotspot region including a screening (n=1283) and two validation cohorts (UK CLL4 trial patients, n=366; CLL Research Consortium (CRC) patients, n=490). Targeted deep-sequencing of 27 known/postulated CLL driver genes was also performed in 38 EGR2-mutated patients to assess concurrent mutations...
November 28, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27843137/pi3k%C3%AE-inhibition-elicits-anti-leukemic-effects-through-bim-dependent-apoptosis
#2
M J Carter, K L Cox, S J Blakemore, A H Turaj, R J Oldham, L N Dahal, S Tannheimer, F Forconi, G Packham, M S Cragg
PI3Kδ plays pivotal roles in the maintenance, proliferation, and survival of malignant B-lymphocytes. Although not curative, PI3Kδ inhibitors (PI3Kδi) demonstrate impressive clinical efficacy and, alongside other signaling inhibitors, are revolutionizing the treatment of hematological malignancies. However, only limited in vivo data are available regarding their mechanism of action. With the rising number of novel treatments, the challenge is to identify combinations that deliver curative regimes. A deeper understanding of the molecular mechanism is required to guide these selections...
November 15, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27783255/targeting-the-protein-ubiquitination-machinery-in-melanoma-by-the-nedd8-activating-enzyme-inhibitor-pevonedistat-mln4924
#3
Kit Man Wong, Lindsey N Micel, Heather M Selby, Aik Choon Tan, Todd M Pitts, Stacey M Bagby, Anna Spreafico, Peter J Klauck, Stephen J Blakemore, Peter F Smith, Alice McDonald, Allison Berger, John J Tentler, S Gail Eckhardt
Background The neddylation pathway conjugates NEDD8 to cullin-RING ligases and controls the proteasomal degradation of specific proteins involved in essential cell processes. Pevonedistat (MLN4924) is a selective small molecule targeting the NEDD8-activating enzyme (NAE) and inhibits an early step in neddylation, resulting in DNA re-replication, cell cycle arrest and death. We investigated the anti-tumor potential of pevonedistat in preclinical models of melanoma. Methods Melanoma cell lines and patient-derived tumor xenografts (PDTX) treated with pevonedistat were assessed for viability/apoptosis and tumor growth, respectively, to identify sensitive/resistant models...
October 25, 2016: Investigational New Drugs
https://www.readbyqxmd.com/read/27773930/non-coding-notch1-mutations-in-chronic-lymphocytic-leukemia-their-clinical-impact-in-the-uk-cll4-trial
#4
M Larrayoz, M J J Rose-Zerilli, L Kadalayil, H Parker, S Blakemore, J Forster, Z Davis, A J Steele, A Collins, M Else, D Catovsky, D G Oscier, J C Strefford
Leukemia accepted article preview online, 24 October 2016. doi:10.1038/leu.2016.298.
October 24, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27647477/perception-and-recognition-of-faces-in-adolescence
#5
D Fuhrmann, L J Knoll, A L Sakhardande, M Speekenbrink, K C Kadosh, S-J Blakemore
Most studies on the development of face cognition abilities have focussed on childhood, with early maturation accounts contending that face cognition abilities are mature by 3-5 years. Late maturation accounts, in contrast, propose that some aspects of face cognition are not mature until at least 10 years. Here, we measured face memory and face perception, two core face cognition abilities, in 661 participants (397 females) in four age groups (younger adolescents (11.27-13.38 years); mid-adolescents (13.39-15...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27618447/trans-ancestry-meta-analyses-identify-rare-and-common-variants-associated-with-blood-pressure-and-hypertension
#6
Praveen Surendran, Fotios Drenos, Robin Young, Helen Warren, James P Cook, Alisa K Manning, Niels Grarup, Xueling Sim, Daniel R Barnes, Kate Witkowska, James R Staley, Vinicius Tragante, Taru Tukiainen, Hanieh Yaghootkar, Nicholas Masca, Daniel F Freitag, Teresa Ferreira, Olga Giannakopoulou, Andrew Tinker, Magdalena Harakalova, Evelin Mihailov, Chunyu Liu, Aldi T Kraja, Sune Fallgaard Nielsen, Asif Rasheed, Maria Samuel, Wei Zhao, Lori L Bonnycastle, Anne U Jackson, Narisu Narisu, Amy J Swift, Lorraine Southam, Jonathan Marten, Jeroen R Huyghe, Alena Stančáková, Cristiano Fava, Therese Ohlsson, Angela Matchan, Kathleen E Stirrups, Jette Bork-Jensen, Anette P Gjesing, Jukka Kontto, Markus Perola, Susan Shaw-Hawkins, Aki S Havulinna, He Zhang, Louise A Donnelly, Christopher J Groves, N William Rayner, Matt J Neville, Neil R Robertson, Andrianos M Yiorkas, Karl-Heinz Herzig, Eero Kajantie, Weihua Zhang, Sara M Willems, Lars Lannfelt, Giovanni Malerba, Nicole Soranzo, Elisabetta Trabetti, Niek Verweij, Evangelos Evangelou, Alireza Moayyeri, Anne-Claire Vergnaud, Christopher P Nelson, Alaitz Poveda, Tibor V Varga, Muriel Caslake, Anton J M de Craen, Stella Trompet, Jian'an Luan, Robert A Scott, Sarah E Harris, David C M Liewald, Riccardo Marioni, Cristina Menni, Aliki-Eleni Farmaki, Göran Hallmans, Frida Renström, Jennifer E Huffman, Maija Hassinen, Stephen Burgess, Ramachandran S Vasan, Janine F Felix, Maria Uria-Nickelsen, Anders Malarstig, Dermot F Reilly, Maarten Hoek, Thomas F Vogt, Honghuang Lin, Wolfgang Lieb, Matthew Traylor, Hugh S Markus, Heather M Highland, Anne E Justice, Eirini Marouli, Jaana Lindström, Matti Uusitupa, Pirjo Komulainen, Timo A Lakka, Rainer Rauramaa, Ozren Polasek, Igor Rudan, Olov Rolandsson, Paul W Franks, George Dedoussis, Timothy D Spector, Pekka Jousilahti, Satu Männistö, Ian J Deary, John M Starr, Claudia Langenberg, Nick J Wareham, Morris J Brown, Anna F Dominiczak, John M Connell, J Wouter Jukema, Naveed Sattar, Ian Ford, Chris J Packard, Tõnu Esko, Reedik Mägi, Andres Metspalu, Rudolf A de Boer, Peter van der Meer, Pim van der Harst, Giovanni Gambaro, Erik Ingelsson, Lars Lind, Paul I W de Bakker, Mattijs E Numans, Ivan Brandslund, Cramer Christensen, Eva R B Petersen, Eeva Korpi-Hyövälti, Heikki Oksa, John C Chambers, Jaspal S Kooner, Alexandra I F Blakemore, Steve Franks, Marjo-Riitta Jarvelin, Lise L Husemoen, Allan Linneberg, Tea Skaaby, Betina Thuesen, Fredrik Karpe, Jaakko Tuomilehto, Alex S F Doney, Andrew D Morris, Colin N A Palmer, Oddgeir Lingaas Holmen, Kristian Hveem, Cristen J Willer, Tiinamaija Tuomi, Leif Groop, AnneMari Käräjämäki, Aarno Palotie, Samuli Ripatti, Veikko Salomaa, Dewan S Alam, Abdulla Al Shafi Majumder, Emanuele Di Angelantonio, Rajiv Chowdhury, Mark I McCarthy, Neil Poulter, Alice V Stanton, Peter Sever, Philippe Amouyel, Dominique Arveiler, Stefan Blankenberg, Jean Ferrières, Frank Kee, Kari Kuulasmaa, Martina Müller-Nurasyid, Giovanni Veronesi, Jarmo Virtamo, Panos Deloukas, Paul Elliott, Eleftheria Zeggini, Sekar Kathiresan, Olle Melander, Johanna Kuusisto, Markku Laakso, Sandosh Padmanabhan, David J Porteous, Caroline Hayward, Generation Scotland, Francis S Collins, Karen L Mohlke, Torben Hansen, Oluf Pedersen, Michael Boehnke, Heather M Stringham, Philippe Frossard, Christopher Newton-Cheh, Martin D Tobin, Børge Grønne Nordestgaard, Mark J Caulfield, Anubha Mahajan, Andrew P Morris, Maciej Tomaszewski, Nilesh J Samani, Danish Saleheen, Folkert W Asselbergs, Cecilia M Lindgren, John Danesh, Louise V Wain, Adam S Butterworth, Joanna M M Howson, Patricia B Munroe
High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to 192,763 individuals and used ∼155,063 samples for independent replication. We identified 30 new blood pressure- or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1...
October 2016: Nature Genetics
https://www.readbyqxmd.com/read/27466198/analysis-with-the-exome-array-identifies-multiple-new-independent-variants-in-lipid-loci
#7
Stavroula Kanoni, Nicholas Gd Masca, Kathleen E Stirrups, Tibor V Varga, Helen R Warren, Robert A Scott, Lorraine Southam, Weihua Zhang, Hanieh Yaghootkar, Martina Müller-Nurasyid, Alexessander Couto Alves, Rona J Strawbridge, Lazaros Lataniotis, Nikman An Hashim, Céline Besse, Anne Boland, Peter S Braund, John M Connell, Anna Dominiczak, Aliki-Eleni Farmaki, Stephen Franks, Harald Grallert, Jan-Håkan Jansson, Maria Karaleftheri, Sirkka Keinänen-Kiukaanniemi, Angela Matchan, Dorota Pasko, Annette Peters, Neil Poulter, Nigel W Rayner, Frida Renström, Olov Rolandsson, Maria Sabater-Lleal, Bengt Sennblad, Peter Sever, Denis Shields, Angela Silveira, Alice V Stanton, Konstantin Strauch, Maciej Tomaszewski, Emmanouil Tsafantakis, Melanie Waldenberger, Alexandra If Blakemore, George Dedoussis, Stefan A Escher, Jaspal S Kooner, Mark I McCarthy, Colin N A Palmer, Anders Hamsten, Mark J Caulfield, Timothy M Frayling, Martin D Tobin, Marjo-Riitta Jarvelin, Eleftheria Zeggini, Christian Gieger, John C Chambers, Nick J Wareham, Patricia B Munroe, Paul W Franks, Nilesh J Samani, Panos Deloukas
It has been hypothesised that low frequency (1-5% MAF) and rare (<1% MAF) variants with large effect sizes may contribute to the missing heritability in complex traits. Here we report an association analysis of lipid traits (total cholesterol, LDL-cholesterol, HDL-cholesterol triglycerides) in up to 27,312 individuals with a comprehensive set of low frequency coding variants (ExomeChip), combined with conditional analysis in the known lipid loci. No new locus reached genome-wide significance. However, we found a new lead variant in 26 known lipid association regions of which 16 were >1000 fold more significant than the previous sentinel variant and not in close LD (6 had MAF < 5%)...
July 27, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27282254/genomic-disruption-of-the-histone-methyltransferase-setd2-in-chronic-lymphocytic-leukaemia
#8
H Parker, M J J Rose-Zerilli, M Larrayoz, R Clifford, J Edelmann, S Blakemore, J Gibson, J Wang, V Ljungström, T K Wojdacz, T Chaplin, A Roghanian, Z Davis, A Parker, E Tausch, S Ntoufa, S Ramos, P Robbe, R Alsolami, A J Steele, G Packham, A E Rodríguez-Vicente, L Brown, F McNicholl, F Forconi, A Pettitt, P Hillmen, M Dyer, M S Cragg, C Chelala, C C Oakes, R Rosenquist, K Stamatopoulos, S Stilgenbauer, S Knight, A Schuh, D G Oscier, J C Strefford
Histone methyltransferases (HMTs) are important epigenetic regulators of gene transcription and are disrupted at the genomic level in a spectrum of human tumours including haematological malignancies. Using high-resolution single nucleotide polymorphism (SNP) arrays, we identified recurrent deletions of the SETD2 locus in 3% (8/261) of chronic lymphocytic leukaemia (CLL) patients. Further validation in two independent cohorts showed that SETD2 deletions were associated with loss of TP53, genomic complexity and chromothripsis...
November 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/26957556/transposon-mutagenesis-reveals-fludarabine-resistance-mechanisms-in-chronic-lymphocytic-leukemia
#9
Tatjana Pandzic, Jimmy Larsson, Liquin He, Snehangshu Kundu, Kenneth Ban, Muhammad Akhtar-Ali, Anders R Hellström, Anna Schuh, Ruth Clifford, Stuart J Blakemore, Jonathan C Strefford, Tycho S Bauman, Armando Lopez-Guillermo, Elias Campo, Viktor Ljungström, Larry Mansouri, Richard Rosenquist, Tobias Sjöblom, Mats Hellström
PURPOSE: To identify resistance mechanisms for the chemotherapeutic drug fludarabine in chronic lymphocytic leukemia (CLL), as innate and acquired resistance to fludarabine-based chemotherapy represents a major challenge for long-term disease control. EXPERIMENTAL DESIGN: We employed piggyBac transposon-mediated mutagenesis, combined with next-generation sequencing, to identify genes that confer resistance to fludarabine in a human CLL cell line. RESULTS: In total, this screen identified 782 genes with transposon integrations in fludarabine-resistant pools of cells...
March 8, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/26604143/genome-wide-association-analysis-identifies-three-new-susceptibility-loci-for-childhood-body-mass-index
#10
MULTICENTER STUDY
Janine F Felix, Jonathan P Bradfield, Claire Monnereau, Ralf J P van der Valk, Evie Stergiakouli, Alessandra Chesi, Romy Gaillard, Bjarke Feenstra, Elisabeth Thiering, Eskil Kreiner-Møller, Anubha Mahajan, Niina Pitkänen, Raimo Joro, Alana Cavadino, Ville Huikari, Steve Franks, Maria M Groen-Blokhuis, Diana L Cousminer, Julie A Marsh, Terho Lehtimäki, John A Curtin, Jesus Vioque, Tarunveer S Ahluwalia, Ronny Myhre, Thomas S Price, Natalia Vilor-Tejedor, Loïc Yengo, Niels Grarup, Ioanna Ntalla, Wei Ang, Mustafa Atalay, Hans Bisgaard, Alexandra I Blakemore, Amelie Bonnefond, Lisbeth Carstensen, Johan Eriksson, Claudia Flexeder, Lude Franke, Frank Geller, Mandy Geserick, Anna-Liisa Hartikainen, Claire M A Haworth, Joel N Hirschhorn, Albert Hofman, Jens-Christian Holm, Momoko Horikoshi, Jouke Jan Hottenga, Jinyan Huang, Haja N Kadarmideen, Mika Kähönen, Wieland Kiess, Hanna-Maaria Lakka, Timo A Lakka, Alexandra M Lewin, Liming Liang, Leo-Pekka Lyytikäinen, Baoshan Ma, Per Magnus, Shana E McCormack, George McMahon, Frank D Mentch, Christel M Middeldorp, Clare S Murray, Katja Pahkala, Tune H Pers, Roland Pfäffle, Dirkje S Postma, Christine Power, Angela Simpson, Verena Sengpiel, Carla M T Tiesler, Maties Torrent, André G Uitterlinden, Joyce B van Meurs, Rebecca Vinding, Johannes Waage, Jane Wardle, Eleftheria Zeggini, Babette S Zemel, George V Dedoussis, Oluf Pedersen, Philippe Froguel, Jordi Sunyer, Robert Plomin, Bo Jacobsson, Torben Hansen, Juan R Gonzalez, Adnan Custovic, Olli T Raitakari, Craig E Pennell, Elisabeth Widén, Dorret I Boomsma, Gerard H Koppelman, Sylvain Sebert, Marjo-Riitta Järvelin, Elina Hyppönen, Mark I McCarthy, Virpi Lindi, Niinikoski Harri, Antje Körner, Klaus Bønnelykke, Joachim Heinrich, Mads Melbye, Fernando Rivadeneira, Hakon Hakonarson, Susan M Ring, George Davey Smith, Thorkild I A Sørensen, Nicholas J Timpson, Struan F A Grant, Vincent W V Jaddoe
A large number of genetic loci are associated with adult body mass index. However, the genetics of childhood body mass index are largely unknown. We performed a meta-analysis of genome-wide association studies of childhood body mass index, using sex- and age-adjusted standard deviation scores. We included 35 668 children from 20 studies in the discovery phase and 11 873 children from 13 studies in the replication phase. In total, 15 loci reached genome-wide significance (P-value < 5 × 10(-8)) in the joint discovery and replication analysis, of which 12 are previously identified loci in or close to ADCY3, GNPDA2, TMEM18, SEC16B, FAIM2, FTO, TFAP2B, TNNI3K, MC4R, GPR61, LMX1B and OLFM4 associated with adult body mass index or childhood obesity...
January 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/26488112/the-sf3b1-inhibitor-spliceostatin-a-ssa-elicits-apoptosis-in-chronic-lymphocytic-leukaemia-cells-through-downregulation-of-mcl-1
#11
M Larrayoz, S J Blakemore, R C Dobson, M D Blunt, M J J Rose-Zerilli, R Walewska, A Duncombe, D Oscier, K Koide, F Forconi, G Packham, M Yoshida, M S Cragg, J C Strefford, A J Steele
The pro-survival Bcl-2 family member Mcl-1 is expressed in chronic lymphocytic leukaemia (CLL), with high expression correlated with progressive disease. The spliceosome inhibitor spliceostatin A (SSA) is known to regulate Mcl-1 and so here we assessed the ability of SSA to elicit apoptosis in CLL. SSA induced apoptosis of CLL cells at low nanomolar concentrations in a dose- and time-dependent manner, but independently of SF3B1 mutational status, IGHV status and CD38 or ZAP70 expression. However, normal B and T cells were less sensitive than CLL cells (P=0...
February 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/26184912/bcr-signaling-induced-cell-death-demonstrates-dependency-on-multiple-bh3-only-proteins-in-a-murine-model-of-b-cell-lymphoma
#12
M J Carter, K L Cox, S J Blakemore, Y D Bogdanov, L Happo, C L Scott, A Strasser, G K Packham, M S Cragg
Genetic recombination during B-cell development regularly results in the generation of autoreactive, potentially pathogenic B-cell receptors (BCRs). Consequently, multiple mechanisms link inappropriate BCR specificity to clonal deletion. Similar pathways remain in malignant B cells, offering the potential for targeting BCR signaling. Recently, small molecule inhibitors have realized this potential and, therefore, a deeper understanding of BCR-induced signaling networks in malignant cells is vital. The BH3-only protein Bim has a key role in BCR-induced apoptosis, but it has long been proposed that additional BH3-only proteins also contribute, although conclusive proof has been lacking...
February 2016: Cell Death and Differentiation
https://www.readbyqxmd.com/read/26075510/unusual-cause-of-a-facial-pressure-ulcer-the-helmet-securing-the-sengstaken-blakemore-tube
#13
S M Kim, R K Ju, J H Lee, Y J Jun, Y J Kim
Many medical devices, such as pulse oximetry, ventilation masks and other splints are put on critically ill patients. Although these devices are designed to deliver relatively low physical pressure to the skin of the patient, they can still cause pressure ulcers (PUs) in critically ill patients. There are reports of medical device-related PUs on the face. Here we describe forehead skin necrosis caused by the securing helmet for the Sengstaken-Blakemore tube. It is difficult to detect this kind of PU early, because most of the patients have decreased mental status or delirium due to varix bleeding...
June 2015: Journal of Wound Care
https://www.readbyqxmd.com/read/25980517/pdgfr%C3%AE-demarcates-the-cardiogenic-clonogenic-sca1-stem-progenitor-cell-in-adult-murine-myocardium
#14
Michela Noseda, Mutsuo Harada, Sara McSweeney, Thomas Leja, Elisa Belian, Daniel J Stuckey, Marta S Abreu Paiva, Josef Habib, Iain Macaulay, Adam J de Smith, Farah al-Beidh, Robert Sampson, R Thomas Lumbers, Pulivarthi Rao, Sian E Harding, Alexandra I F Blakemore, Sten Eirik Jacobsen, Mauricio Barahona, Michael D Schneider
Cardiac progenitor/stem cells in adult hearts represent an attractive therapeutic target for heart regeneration, though (inter)-relationships among reported cells remain obscure. Using single-cell qRT-PCR and clonal analyses, here we define four subpopulations of cardiac progenitor/stem cells in adult mouse myocardium all sharing stem cell antigen-1 (Sca1), based on side population (SP) phenotype, PECAM-1 (CD31) and platelet-derived growth factor receptor-α (PDGFRα) expression. SP status predicts clonogenicity and cardiogenic gene expression (Gata4/6, Hand2 and Tbx5/20), properties segregating more specifically to PDGFRα(+) cells...
May 18, 2015: Nature Communications
https://www.readbyqxmd.com/read/25436672/grasping-with-the-press-of-a-button-grasp-selective-responses-in-the-human-anterior-intraparietal-sulcus-depend-on-nonarbitrary-causal-relationships-between-hand-movements-and-end-effector-actions
#15
Scott H Frey, Marc Hansen, Noah Marchal
Evidence implicates ventral parieto-premotor cortices in representing the goal of grasping independent of the movements or effectors involved [Umilta, M. A., Escola, L., Intskirveli, I., Grammont, F., Rochat, M., Caruana, F., et al. When pliers become fingers in the monkey motor system. Proceedings of the National Academy of Sciences, U.S.A., 105, 2209-2213, 2008; Tunik, E., Frey, S. H., & Grafton, S. T. Virtual lesions of the anterior intraparietal area disrupt goal-dependent on-line adjustments of grasp. Nature Neuroscience, 8, 505-511, 2005]...
June 2015: Journal of Cognitive Neuroscience
https://www.readbyqxmd.com/read/25281659/a-novel-common-variant-in-dcst2-is-associated-with-length-in-early-life-and-height-in-adulthood
#16
Ralf J P van der Valk, Eskil Kreiner-Møller, Marjolein N Kooijman, Mònica Guxens, Evangelia Stergiakouli, Annika Sääf, Jonathan P Bradfield, Frank Geller, M Geoffrey Hayes, Diana L Cousminer, Antje Körner, Elisabeth Thiering, John A Curtin, Ronny Myhre, Ville Huikari, Raimo Joro, Marjan Kerkhof, Nicole M Warrington, Niina Pitkänen, Ioanna Ntalla, Momoko Horikoshi, Riitta Veijola, Rachel M Freathy, Yik-Ying Teo, Sheila J Barton, David M Evans, John P Kemp, Beate St Pourcain, Susan M Ring, George Davey Smith, Anna Bergström, Inger Kull, Hakon Hakonarson, Frank D Mentch, Hans Bisgaard, Bo Chawes, Jakob Stokholm, Johannes Waage, Patrick Eriksen, Astrid Sevelsted, Mads Melbye, Cornelia M van Duijn, Carolina Medina-Gomez, Albert Hofman, Johan C de Jongste, H Rob Taal, André G Uitterlinden, Loren L Armstrong, Johan Eriksson, Aarno Palotie, Mariona Bustamante, Xavier Estivill, Juan R Gonzalez, Sabrina Llop, Wieland Kiess, Anubha Mahajan, Claudia Flexeder, Carla M T Tiesler, Clare S Murray, Angela Simpson, Per Magnus, Verena Sengpiel, Anna-Liisa Hartikainen, Sirkka Keinanen-Kiukaanniemi, Alexandra Lewin, Alexessander Da Silva Couto Alves, Alexandra I Blakemore, Jessica L Buxton, Marika Kaakinen, Alina Rodriguez, Sylvain Sebert, Marja Vaarasmaki, Timo Lakka, Virpi Lindi, Ulrike Gehring, Dirkje S Postma, Wei Ang, John P Newnham, Leo-Pekka Lyytikäinen, Katja Pahkala, Olli T Raitakari, Kalliope Panoutsopoulou, Eleftheria Zeggini, Dorret I Boomsma, Maria Groen-Blokhuis, Jorma Ilonen, Lude Franke, Joel N Hirschhorn, Tune H Pers, Liming Liang, Jinyan Huang, Berthold Hocher, Mikael Knip, Seang-Mei Saw, John W Holloway, Erik Melén, Struan F A Grant, Bjarke Feenstra, William L Lowe, Elisabeth Widén, Elena Sergeyev, Harald Grallert, Adnan Custovic, Bo Jacobsson, Marjo-Riitta Jarvelin, Mustafa Atalay, Gerard H Koppelman, Craig E Pennell, Harri Niinikoski, George V Dedoussis, Mark I Mccarthy, Timothy M Frayling, Jordi Sunyer, Nicholas J Timpson, Fernando Rivadeneira, Klaus Bønnelykke, Vincent W V Jaddoe
Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 × 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2)...
February 15, 2015: Human Molecular Genetics
https://www.readbyqxmd.com/read/24439623/trust-and-social-reciprocity-in-adolescence-a-matter-of-perspective-taking
#17
Anne-Kathrin J Fett, Sukhi S Shergill, Paula M Gromann, Iroise Dumontheil, Sarah-Jayne Blakemore, Farah Yakub, Lydia Krabbendam
Changes in social behaviour from childhood to adulthood have been suggested to be driven by an increased sensitivity to others' perspectives. Yet, the link between perspective-taking and social processes, such as trust and reciprocity, has rarely been investigated during adolescence. Using two trust games with a cooperative and an unfair counterpart and an online perspective-taking task with 50 adolescents, we show that those with a higher perspective-taking tendency demonstrate greater trust towards others and higher levels of trust during cooperative interactions...
February 2014: Journal of Adolescence
https://www.readbyqxmd.com/read/24363065/imprinted-expression-of-ube3a-in-non-neuronal-cells-from-a-prader-willi-syndrome-patient-with-an-atypical-deletion
#18
Kristen Martins-Taylor, Jack S Hsiao, Pin-Fang Chen, Heather Glatt-Deeley, Adam J De Smith, Alexandra I F Blakemore, Marc Lalande, Stormy J Chamberlain
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two neurodevelopmental disorders most often caused by deletions of the same region of paternally inherited and maternally inherited human chromosome 15q, respectively. AS is a single gene disorder, caused by the loss of function of the ubiquitin ligase E3A (UBE3A) gene, while PWS is still considered a contiguous gene disorder. Rare individuals with PWS who carry atypical microdeletions on chromosome 15q have narrowed the critical region for this disorder to a 108 kb region that includes the SNORD116 snoRNA cluster and the Imprinted in Prader-Willi (IPW) non-coding RNA...
May 1, 2014: Human Molecular Genetics
https://www.readbyqxmd.com/read/24311771/telomere-length-in-circulating-leukocytes-is-associated-with-lung-function-and-disease
#19
Eva Albrecht, Elina Sillanpää, Stefan Karrasch, Alexessander Couto Alves, Veryan Codd, Iiris Hovatta, Jessica L Buxton, Christopher P Nelson, Linda Broer, Sara Hägg, Massimo Mangino, Gonneke Willemsen, Ida Surakka, Manuel A R Ferreira, Najaf Amin, Ben A Oostra, Heli M Bäckmand, Markku Peltonen, Seppo Sarna, Taina Rantanen, Sarianna Sipilä, Tellervo Korhonen, Pamela A F Madden, Christian Gieger, Rudolf A Jörres, Joachim Heinrich, Jürgen Behr, Rudolf M Huber, Annette Peters, Konstantin Strauch, H Erich Wichmann, Melanie Waldenberger, Alexandra I F Blakemore, Eco J C de Geus, Dale R Nyholt, Anjali K Henders, Päivi L Piirilä, Aila Rissanen, Patrik K E Magnusson, Ana Viñuela, Kirsi H Pietiläinen, Nicholas G Martin, Nancy L Pedersen, Dorret I Boomsma, Tim D Spector, Cornelia M van Duijn, Jaakko Kaprio, Nilesh J Samani, Marjo-Riitta Jarvelin, Holger Schulz
Several clinical studies suggest the involvement of premature ageing processes in chronic obstructive pulmonary disease (COPD). Using an epidemiological approach, we studied whether accelerated ageing indicated by telomere length, a marker of biological age, is associated with COPD and asthma, and whether intrinsic age-related processes contribute to the interindividual variability of lung function. Our meta-analysis of 14 studies included 934 COPD cases with 15 846 controls defined according to the Global Lungs Initiative (GLI) criteria (or 1189 COPD cases according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD) criteria), 2834 asthma cases with 28 195 controls, and spirometric parameters (forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC) of 12 595 individuals...
April 2014: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/24245686/noncovalent-immobilization-of-electrocatalysts-on-carbon-electrodes-for-fuel-production
#20
James D Blakemore, Ayush Gupta, Jeffrey J Warren, Bruce S Brunschwig, Harry B Gray
We show that molecular catalysts for fuel-forming reactions can be immobilized on graphitic carbon electrode surfaces via noncovalent interactions. A pyrene-appended bipyridine ligand (P) serves as the linker between each complex and the surface. Immobilization of a rhodium proton-reduction catalyst, [Cp*Rh(P)Cl]Cl (1), and a rhenium CO2-reduction catalyst, Re(P)(CO)3Cl (2), afford electrocatalytically active assemblies. X-ray photoelectron spectroscopy and electrochemistry confirm catalyst immobilization. Reduction of 1 in the presence of p-toluenesulfonic acid results in catalytic H2 production, while reduction of 2 in the presence of CO2 results in catalytic CO production...
December 11, 2013: Journal of the American Chemical Society
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