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Jeffrey Gordon

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https://www.readbyqxmd.com/read/28437895/aplanatic-fresnel-optics
#1
Heylal Mashaal, Daniel Feuermann, Jeffrey M Gordon
We provide a general formulation for the design of any dual-surface aplanatic Fresnel optic (including combinations of refractive and reflective surfaces), with categories of devices that had not previously been recognized. Raytrace simulations for representative Fresnel aplanats in collimation (illumination) mode reveal compact designs with radiative efficiencies close to those of their aplanatic continuous non-Fresnel counterparts, and optical performance approaching the thermodynamic limit for radiative transfer...
April 17, 2017: Optics Express
https://www.readbyqxmd.com/read/28431584/monitoring-quality-and-coverage-of-harm-reduction-services-for-people-who-use-drugs-a-consensus-study
#2
Lucas Wiessing, Marica Ferri, Vendula Běláčková, Patrizia Carrieri, Samuel R Friedman, Cinta Folch, Kate Dolan, Brian Galvin, Peter Vickerman, Jeffrey V Lazarus, Viktor Mravčík, Mirjam Kretzschmar, Vana Sypsa, Ana Sarasa-Renedo, Anneli Uusküla, Dimitrios Paraskevis, Luis Mendão, Diana Rossi, Nadine van Gelder, Luke Mitcheson, Letizia Paoli, Cristina Diaz Gomez, Maitena Milhet, Nicoleta Dascalu, Jonathan Knight, Gordon Hay, Eleni Kalamara, Roland Simon, Catherine Comiskey, Carla Rossi, Paul Griffiths
BACKGROUND AND AIMS: Despite advances in our knowledge of effective services for people who use drugs over the last decades globally, coverage remains poor in most countries, while quality is often unknown. This paper aims to discuss the historical development of successful epidemiological indicators and to present a framework for extending them with additional indicators of coverage and quality of harm reduction services, for monitoring and evaluation at international, national or subnational levels...
April 22, 2017: Harm Reduction Journal
https://www.readbyqxmd.com/read/28418267/btk-c481s-mediated-resistance-to-ibrutinib-in-chronic-lymphocytic-leukemia
#3
Jennifer A Woyach, Amy S Ruppert, Daphne Guinn, Amy Lehman, James S Blachly, Arletta Lozanski, Nyla A Heerema, Weiqiang Zhao, Joshua Coleman, Daniel Jones, Lynne Abruzzo, Amber Gordon, Rose Mantel, Lisa L Smith, Samantha McWhorter, Melanie Davis, Tzyy-Jye Doong, Fan Ny, Margaret Lucas, Weihong Chase, Jeffrey A Jones, Joseph M Flynn, Kami Maddocks, Kerry Rogers, Samantha Jaglowski, Leslie A Andritsos, Farrukh T Awan, Kristie A Blum, Michael R Grever, Gerard Lozanski, Amy J Johnson, John C Byrd
Purpose Therapeutic targeting of Bruton tyrosine kinase (BTK) with ibrutinib in chronic lymphocytic leukemia has led to a paradigm shift in therapy, and relapse has been uncommon with current follow-up. Acquired mutations in BTK and PLCG2 can cause relapse, but data regarding the prevalence and natural history of these mutations are limited. Patients and Methods Patients accrued to four sequential studies of ibrutinib were included in these analyses. Deep sequencing for BTK and PLCG2 was performed retrospectively on patients who experienced relapse and prospectively on a screening population...
February 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28417157/impact-of-cachexia-on-outcomes-in-aggressive-lymphomas
#4
Reem Karmali, Taha Alrifai, Ibtihaj A M Fughhi, Ronald Ng, Vineela Chukkapalli, Palmi Shah, Sanjib Basu, Sunita Nathan, Kelly Szymanski-Grant, Leo I Gordon, Parameswaran Venugopal, Frank J Penedo, Jeffrey A Borgia
Cancer cachexia is defined as a state of involuntary weight loss, attributed to altered body composition with muscle mass loss and/or loss of adiposity. Identifying the association between cancer cachexia and outcomes may pave the way for novel agents that target the cancer cachexia process. Clinical parameters for measurement of cancer cachexia are needed. We conducted a single-institution retrospective analysis that included 86 NHL patients with the aim of identifying an association between cancer cachexia and outcomes in aggressive lymphomas using the cachexia index (CXI) suggested by Jafri et al...
April 17, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28407644/mobile-phone-and-internet-use-mostly-for-sex-seeking-and-associations-with-sexually-transmitted-infections-and-sample-characteristics-among-black-african-american-and-hispanic-latino-men-who-have-sex-with-men-in-3-us-cities
#5
Jacob E Allen, Gordon Mansergh, Matthew J Mimiaga, Jeremy Holman, Jeffrey H Herbst
BACKGROUND: Men who have sex with men (MSM) have a relatively high prevalence of sexually transmitted infections (STIs). This study examines the association of self-reported STIs and use of mobile phones and/or computer-based Internet to meet sexual partners among black and Hispanic/Latino MSM in the United States. METHODS: Black and Hispanic/Latino MSM (N = 853) were recruited from 3 US cities (Chicago, IL; Kansas City, MO; and Fort Lauderdale, FL) via online and community outreach...
May 2017: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28406723/aspirin-use-and-colorectal-cancer-survival-according-to-tumor-cd274-programmed-cell-death-1-ligand-1-expression-status
#6
Tsuyoshi Hamada, Yin Cao, Zhi Rong Qian, Yohei Masugi, Jonathan A Nowak, Juhong Yang, Mingyang Song, Kosuke Mima, Keisuke Kosumi, Li Liu, Yan Shi, Annacarolina da Silva, Mancang Gu, Wanwan Li, NaNa Keum, Xuehong Zhang, Kana Wu, Jeffrey A Meyerhardt, Edward L Giovannucci, Marios Giannakis, Scott J Rodig, Gordon J Freeman, Daniel Nevo, Molin Wang, Andrew T Chan, Charles S Fuchs, Reiko Nishihara, Shuji Ogino
Purpose Blockade of the programmed cell death 1 (PDCD1, PD-1) immune checkpoint pathway can improve clinical outcomes in various malignancies. Evidence suggests that aspirin (a widely used nonsteroidal anti-inflammatory drug) not only prolongs colorectal cancer survival, but can also activate T cell-mediated antitumor immunity and synergize with immunotherapy through inhibition of prostaglandin E2 production. We hypothesized that the survival benefit associated with aspirin might be stronger in colorectal carcinoma with a lower CD274 (PDCD1 ligand 1, PD-L1) expression level that resulted in lower signaling of the immune checkpoint pathway...
April 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28394597/assessing-dft-d3-damping-functions-across-widely-used-density-functionals-can-we-do-better
#7
Jonathon Witte, Narbe Mardirossian, Jeffrey B Neaton, Martin Head-Gordon
With the aim of improving the utility of the DFT-D3 empirical dispersion correction, we herein generalize the DFT-D3 damping function by optimizing an additional parameter, an exponent, which controls the rate at which the dispersion tail is activated. This method -- DFT-D3(op), shorthand for "optimized power," where power refers to the newly introduced exponent -- is then parameterized for use with ten popular density functional approximations across a small set of non-covalent interactions and isomerization energies; the resulting methods are then evaluated across a large independent test set of 2475 non-covalent binding energies and isomerization energies...
April 10, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28391526/trans-ethnic-fine-mapping-of-genetic-loci-for-body-mass-index-in-the-diverse-ancestral-populations-of-the-population-architecture-using-genomics-and-epidemiology-page-study-reveals-evidence-for-multiple-signals-at-established-loci
#8
Lindsay Fernández-Rhodes, Jian Gong, Jeffrey Haessler, Nora Franceschini, Mariaelisa Graff, Katherine K Nishimura, Yujie Wang, Heather M Highland, Sachiko Yoneyama, William S Bush, Robert Goodloe, Marylyn D Ritchie, Dana Crawford, Myron Gross, Myriam Fornage, Petra Buzkova, Ran Tao, Carmen Isasi, Larissa Avilés-Santa, Martha Daviglus, Rachel H Mackey, Denise Houston, C Charles Gu, Georg Ehret, Khanh-Dung H Nguyen, Cora E Lewis, Mark Leppert, Marguerite R Irvin, Unhee Lim, Christopher A Haiman, Loic Le Marchand, Fredrick Schumacher, Lynne Wilkens, Yingchang Lu, Erwin P Bottinger, Ruth J L Loos, Wayne H-H Sheu, Xiuqing Guo, Wen-Jane Lee, Yang Hai, Yi-Jen Hung, Devin Absher, I-Chien Wu, Kent D Taylor, I-Te Lee, Yeheng Liu, Tzung-Dau Wang, Thomas Quertermous, Jyh-Ming J Juang, Jerome I Rotter, Themistocles Assimes, Chao A Hsiung, Yii-Der Ida Chen, Ross Prentice, Lewis H Kuller, JoAnn E Manson, Charles Kooperberg, Paul Smokowski, Whitney R Robinson, Penny Gordon-Larsen, Rongling Li, Lucia Hindorff, Steven Buyske, Tara C Matise, Ulrike Peters, Kari E North
Most body mass index (BMI) genetic loci have been identified in studies of primarily European ancestries. The effect of these loci in other racial/ethnic groups is less clear. Thus, we aimed to characterize the generalizability of 170 established BMI variants, or their proxies, to diverse US populations and trans-ethnically fine-map 36 BMI loci using a sample of >102,000 adults of African, Hispanic/Latino, Asian, European and American Indian/Alaskan Native descent from the Population Architecture using Genomics and Epidemiology Study...
April 8, 2017: Human Genetics
https://www.readbyqxmd.com/read/28389502/dc-subset-specific-induction-of-t-cell-responses-upon-antigen-uptake-via-fc%C3%AE-receptors-in-vivo
#9
Christian H K Lehmann, Anna Baranska, Gordon F Heidkamp, Lukas Heger, Kirsten Neubert, Jennifer J Lühr, Alana Hoffmann, Katharina C Reimer, Christin Brückner, Simone Beck, Michaela Seeling, Melissa Kießling, Didier Soulat, Anne B Krug, Jeffrey V Ravetch, Jeanette H W Leusen, Falk Nimmerjahn, Diana Dudziak
Dendritic cells (DCs) are efficient antigen-presenting cells equipped with various cell surface receptors for the direct or indirect recognition of pathogenic microorganisms. Interestingly, not much is known about the specific expression pattern and function of the individual activating and inhibitory Fcγ receptors (FcγRs) on splenic DC subsets in vivo and how they contribute to the initiation of T cell responses. By targeting antigens to select activating and the inhibitory FcγR in vivo, we show that antigen uptake under steady-state conditions results in a short-term expansion of antigen-specific T cells, whereas under inflammatory conditions especially, the activating FcγRIV is able to induce superior CD4(+) and CD8(+) T cell responses...
April 7, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28374524/legacy-introductions-and-climatic-variation-explain-spatiotemporal-patterns-of-invasive-hybridization-in-a-native-trout
#10
Clint C Muhlfeld, Ryan P Kovach, Robert Al-Chokhachy, Stephen J Amish, Jeffrey L Kershner, Robb F Leary, Winsor H Lowe, Gordon Luikart, Phil Matson, David A Schmetterling, Bradley B Shepard, Peter A H Westley, Diane Whited, Andrew Whiteley, Fred W Allendorf
Hybridization between invasive and native species, a significant threat to worldwide biodiversity, is predicted to increase due to climate-induced expansions of invasive species. Long-term research and monitoring are crucial for understanding the ecological and evolutionary processes that modulate the effects of invasive species. Using a large, multidecade genetics dataset (N = 582 sites, 12,878 individuals) with high-resolution climate predictions and extensive stocking records, we evaluate the spatiotemporal dynamics of hybridization between native cutthroat trout and invasive rainbow trout, the world's most widely introduced invasive fish, across the Northern Rocky Mountains of the United States...
April 4, 2017: Global Change Biology
https://www.readbyqxmd.com/read/28351917/rna-sequencing-identifies-new-rnase-iii-cleavage-sites-in-escherichia-coli-and-reveals-increased-regulation-of-mrna
#11
Gina C Gordon, Jeffrey C Cameron, Brian F Pfleger
Ribonucleases facilitate rapid turnover of RNA, providing cells with another mechanism to adjust transcript and protein levels in response to environmental conditions. While many examples have been documented, a comprehensive list of RNase targets is not available. To address this knowledge gap, we compared levels of RNA sequencing coverage of Escherichia coli and a corresponding RNase III mutant to expand the list of known RNase III targets. RNase III is a widespread endoribonuclease that binds and cleaves double-stranded RNA in many critical transcripts...
March 28, 2017: MBio
https://www.readbyqxmd.com/read/28346077/effects-of-brief-messages-about-antiretroviral-therapy-and-condom-use-benefits-among-black-and-latino-msm-in-three-us-cities
#12
Jeffrey H Herbst, Gordon Mansergh, Nicole Pitts, Damian Denson, Matthew J Mimiaga, Jeremy Holman
This pilot study examined effects of HIV prevention messages about self and partner benefits of antiretroviral therapy (ART) and condom effectiveness on increased intentions for behavior change. Data were from Messages4Men, a study examining prevention messages among 320 HIV-positive and 605 HIV-negative black and Latino MSM. Men completed a computer-based assessment after message exposure, and multivariable models controlled for risky sex and demographics. A majority of HIV-positive men reported increased intentions for ART use; 22% reported partner benefit information was new...
March 27, 2017: Journal of Homosexuality
https://www.readbyqxmd.com/read/28328384/the-surgeon-general-s-facing-addiction-report-an-historic-document-for-healthcare
#13
Sharon Levy, J Paul Seale, Victoria A Osborne, Kevin L Kraemer, Daniel P Alford, Jeffrey Baxter, Deborah S Finnell, Hillary Kunins, Alexander Y Walley, David C Lewis, Doreen MacLane-Baeder, Adam J Gordon
The publication of Facing Addiction in America: The Surgeon General's Report on Alcohol, Drugs, and Health presents an historic moment not only for the field of addiction medicine, but also for the United States as a nation. The Board of Directors of the Association for Medical Education and Research in Substance Abuse (AMERSA), on behalf of our organization, would like to express our appreciation of the efforts of Dr. Vivek Murthy and the Surgeon General's Office to publish the first surgeon general's report covering substance misuse and substance use disorders...
March 22, 2017: Substance Abuse
https://www.readbyqxmd.com/read/28270437/what-are-the-critical-elements-of-sideline-screening-that-can-be-used-to-establish-the-diagnosis-of-concussion-a-systematic-review
#14
REVIEW
Jon Patricios, Gordon Ward Fuller, Richard Ellenbogen, Stanley Herring, Jeffrey S Kutcher, Mike Loosemore, Michael Makdissi, Michael McCrea, Margot Putukian, Kathryn J Schneider
BACKGROUND: Sideline detection is the first and most significant step in recognising a potential concussion and removing an athlete from harm. This systematic review aims to evaluate the critical elements aiding sideline recognition of potential concussions including screening tools, technologies and integrated assessment protocols. DATA SOURCES: Bibliographic databases, grey literature repositories and relevant websites were searched from 1 January 2000 to 30 September 2016...
March 7, 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28242727/models-of-inhibitory-control
#15
REVIEW
Jeffrey D Schall, Thomas J Palmeri, Gordon D Logan
We survey models of response inhibition having different degrees of mathematical, computational and neurobiological specificity and generality. The independent race model accounts for performance of the stop-signal or countermanding task in terms of a race between GO and STOP processes with stochastic finishing times. This model affords insights into neurophysiological mechanisms that are reviewed by other authors in this volume. The formal link between the abstract GO and STOP processes and instantiating neural processes is articulated through interactive race models consisting of stochastic accumulator GO and STOP units...
April 19, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28241208/association-between-telomere-length-and-risk-of-cancer-and-non-neoplastic-diseases-a-mendelian-randomization-study
#16
Philip C Haycock, Stephen Burgess, Aayah Nounu, Jie Zheng, George N Okoli, Jack Bowden, Kaitlin Hazel Wade, Nicholas J Timpson, David M Evans, Peter Willeit, Abraham Aviv, Tom R Gaunt, Gibran Hemani, Massimo Mangino, Hayley Patricia Ellis, Kathreena M Kurian, Karen A Pooley, Rosalind A Eeles, Jeffrey E Lee, Shenying Fang, Wei V Chen, Matthew H Law, Lisa M Bowdler, Mark M Iles, Qiong Yang, Bradford B Worrall, Hugh Stephen Markus, Rayjean J Hung, Chris I Amos, Amanda B Spurdle, Deborah J Thompson, Tracy A O'Mara, Brian Wolpin, Laufey Amundadottir, Rachael Stolzenberg-Solomon, Antonia Trichopoulou, N Charlotte Onland-Moret, Eiliv Lund, Eric J Duell, Federico Canzian, Gianluca Severi, Kim Overvad, Marc J Gunter, Rosario Tumino, Ulrika Svenson, Andre van Rij, Annette F Baas, Matthew J Bown, Nilesh J Samani, Femke N G van t'Hof, Gerard Tromp, Gregory T Jones, Helena Kuivaniemi, James R Elmore, Mattias Johansson, James Mckay, Ghislaine Scelo, Robert Carreras-Torres, Valerie Gaborieau, Paul Brennan, Paige M Bracci, Rachel E Neale, Sara H Olson, Steven Gallinger, Donghui Li, Gloria M Petersen, Harvey A Risch, Alison P Klein, Jiali Han, Christian C Abnet, Neal D Freedman, Philip R Taylor, John M Maris, Katja K Aben, Lambertus A Kiemeney, Sita H Vermeulen, John K Wiencke, Kyle M Walsh, Margaret Wrensch, Terri Rice, Clare Turnbull, Kevin Litchfield, Lavinia Paternoster, Marie Standl, Gonçalo R Abecasis, John Paul SanGiovanni, Yong Li, Vladan Mijatovic, Yadav Sapkota, Siew-Kee Low, Krina T Zondervan, Grant W Montgomery, Dale R Nyholt, David A van Heel, Karen Hunt, Dan E Arking, Foram N Ashar, Nona Sotoodehnia, Daniel Woo, Jonathan Rosand, Mary E Comeau, W Mark Brown, Edwin K Silverman, John E Hokanson, Michael H Cho, Jennie Hui, Manuel A Ferreira, Philip J Thompson, Alanna C Morrison, Janine F Felix, Nicholas L Smith, Angela M Christiano, Lynn Petukhova, Regina C Betz, Xing Fan, Xuejun Zhang, Caihong Zhu, Carl D Langefeld, Susan D Thompson, Feijie Wang, Xu Lin, David A Schwartz, Tasha Fingerlin, Jerome I Rotter, Mary Frances Cotch, Richard A Jensen, Matthias Munz, Henrik Dommisch, Arne S Schaefer, Fang Han, Hanna M Ollila, Ryan P Hillary, Omar Albagha, Stuart H Ralston, Chenjie Zeng, Wei Zheng, Xiao-Ou Shu, Andre Reis, Steffen Uebe, Ulrike Hüffmeier, Yoshiya Kawamura, Takeshi Otowa, Tsukasa Sasaki, Martin Lloyd Hibberd, Sonia Davila, Gang Xie, Katherine Siminovitch, Jin-Xin Bei, Yi-Xin Zeng, Asta Försti, Bowang Chen, Stefano Landi, Andre Franke, Annegret Fischer, David Ellinghaus, Carlos Flores, Imre Noth, Shwu-Fan Ma, Jia Nee Foo, Jianjun Liu, Jong-Won Kim, David G Cox, Olivier Delattre, Olivier Mirabeau, Christine F Skibola, Clara S Tang, Merce Garcia-Barcelo, Kai-Ping Chang, Wen-Hui Su, Yu-Sun Chang, Nicholas G Martin, Scott Gordon, Tracey D Wade, Chaeyoung Lee, Michiaki Kubo, Pei-Chieng Cha, Yusuke Nakamura, Daniel Levy, Masayuki Kimura, Shih-Jen Hwang, Steven Hunt, Tim Spector, Nicole Soranzo, Ani W Manichaikul, R Graham Barr, Bratati Kahali, Elizabeth Speliotes, Laura M Yerges-Armstrong, Ching-Yu Cheng, Jost B Jonas, Tien Yin Wong, Isabella Fogh, Kuang Lin, John F Powell, Kenneth Rice, Caroline L Relton, Richard M Martin, George Davey Smith
Importance: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. Objective: To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. Data Sources: Genomewide association studies (GWAS) published up to January 15, 2015...
February 23, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28211579/impact-of-treatment-variability-on-survival-in-immuno-competent-and-immuno-compromised-patients-with-primary-central-nervous-lymphoma
#17
Reem Karmali, Chadi Nabhan, Adam M Petrich, Jeffrey Raizer, David Peace, Rimas Lukas, Leo I Gordon, Sanjib Basu, Vineela Chukkapalli, Parameswaran Venugopal
Patients with primary central nervous system lymphoma (PCNSL) treated in the 'real-world' setting do not represent those treated on clinical trials and might not be treated similarly. We studied characteristics and variability in care for 113 newly diagnosed PCNSL patients treated at 5 institutions in the Chicago area between 2000 and 2012. In 111 patients, single modality therapy with a high dose methotrexate (HD-MTX) regimen +/- rituximab, was most commonly employed (n = 65), and 34 underwent radiotherapy (+/- systemic therapy)...
April 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28196595/characterization-of-human-cancer-cell-lines-by-reverse-phase-protein-arrays
#18
Jun Li, Wei Zhao, Rehan Akbani, Wenbin Liu, Zhenlin Ju, Shiyun Ling, Christopher P Vellano, Paul Roebuck, Qinghua Yu, A Karina Eterovic, Lauren A Byers, Michael A Davies, Wanleng Deng, Y N Vashisht Gopal, Guo Chen, Erika M von Euw, Dennis Slamon, Dylan Conklin, John V Heymach, Adi F Gazdar, John D Minna, Jeffrey N Myers, Yiling Lu, Gordon B Mills, Han Liang
Cancer cell lines are major model systems for mechanistic investigation and drug development. However, protein expression data linked to high-quality DNA, RNA, and drug-screening data have not been available across a large number of cancer cell lines. Using reverse-phase protein arrays, we measured expression levels of ∼230 key cancer-related proteins in >650 independent cell lines, many of which have publically available genomic, transcriptomic, and drug-screening data. Our dataset recapitulates the effects of mutated pathways on protein expression observed in patient samples, and demonstrates that proteins and particularly phosphoproteins provide information for predicting drug sensitivity that is not available from the corresponding mRNAs...
February 13, 2017: Cancer Cell
https://www.readbyqxmd.com/read/28167214/doppler-endoscopic-probe-monitoring-of-blood-flow-improves-risk-stratification-and-outcomes-of-patients-with-severe-nonvariceal-upper-gastrointestinal-hemorrhage
#19
Dennis M Jensen, Thomas O G Kovacs, Gordon V Ohning, Kevin Ghassemi, Gustavo A Machicado, Gareth S Dulai, Alireza Sedarat, Rome Jutabha, Jeffrey Gornbein
BACKGROUND & AIMS: For 4 decades, stigmata of recent hemorrhages in patients with nonvariceal lesions have been used for risk stratification and endoscopic hemostasis. The arterial blood flow that underlies the stigmata rarely is monitored, but can be used to determine risk for rebleeding. We performed a randomized controlled trial to determine whether Doppler endoscopic probe monitoring of blood flow improves risk stratification and outcomes in patients with severe nonvariceal upper gastrointestinal hemorrhage...
February 4, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28146470/rare-and-low-frequency-coding-variants-alter-human-adult-height
#20
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
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