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Richard Hopper

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https://www.readbyqxmd.com/read/28407354/defining-mandibular-morphology-in-robin-sequence-a-matched-case-control-study
#1
Srinivas M Susarla, Nefeli Vasilakou, Hitesh Kapadia, Mark Egbert, Richard A Hopper, Kelly N Evans
Robin Sequence (RS) is classically defined as the triad of micrognathia, glossoptosis, and airway obstruction. While there remains significant debate over diagnostic criteria for severity, there is consensus regarding micrognathia as a defining feature of the condition. The purpose of this study was to compare mandibular morphology among infants and children with RS to infants and children without RS using maxillofacial computed tomography. Our hypothesis was that there are discrete morphologic differences between RS and non-RS mandibles...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28369451/association-between-birthweight-and-later-body-mass-index-an-individual-based-pooled-analysis-of-27-twin-cohorts-participating-in-the-codatwins-project
#2
Aline Jelenkovic, Yoshie Yokoyama, Reijo Sund, Kirsi H Pietiläinen, Yoon-Mi Hur, Gonneke Willemsen, Meike Bartels, Toos Cem van Beijsterveldt, Syuichi Ooki, Kimberly J Saudino, Maria A Stazi, Corrado Fagnani, Cristina D'Ippolito, Tracy L Nelson, Keith E Whitfield, Ariel Knafo-Noam, David Mankuta, Lior Abramson, Kauko Heikkilä, Tessa L Cutler, John L Hopper, Jane Wardle, Clare H Llewellyn, Abigail Fisher, Robin P Corley, Brooke M Huibregtse, Catherine A Derom, Robert F Vlietinck, Ruth Jf Loos, Morten Bjerregaard-Andersen, Henning Beck-Nielsen, Morten Sodemann, Adam D Tarnoki, David L Tarnoki, S Alexandra Burt, Kelly L Klump, Juan R Ordoñana, Juan F Sánchez-Romera, Lucia Colodro-Conde, Lise Dubois, Michel Boivin, Mara Brendgen, Ginette Dionne, Frank Vitaro, Jennifer R Harris, Ingunn Brandt, Thomas Sevenius Nilsen, Jeffrey M Craig, Richard Saffery, Finn Rasmussen, Per Tynelius, Gombojav Bayasgalan, Danshiitsoodol Narandalai, Claire Ma Haworth, Robert Plomin, Fuling Ji, Feng Ning, Zengchang Pang, Esther Rebato, Robert F Krueger, Matt McGue, Shandell Pahlen, Dorret I Boomsma, Thorkild Ia Sørensen, Jaakko Kaprio, Karri Silventoinen
Background: There is evidence that birthweight is positively associated with body mass index (BMI) in later life, but it remains unclear whether this is explained by genetic factors or the intrauterine environment. We analysed the association between birthweight and BMI from infancy to adulthood within twin pairs, which provides insights into the role of genetic and environmental individual-specific factors. Methods: This study is based on the data from 27 twin cohorts in 17 countries...
March 19, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28340513/mendelian-randomisation-implicates-hyperlipidaemia-as-a-risk-factor-for-colorectal-cancer
#3
Henry Rodriguez-Broadbent, Philip J Law, Amit Sud, Kimmo Palin, Sari Tuupanen, Alexandra Gylfe, Ulrika A Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Samuli Ripatti, Johan G Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Aarno Palotie, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Nada A Al-Tassan, Claire Palles, Lynn Martin, Ella Barclay, Susan M Farrington, Maria N Timofeeva, Brian F Meyer, Salma M Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Timothy S Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Michael N Passarelli, Jane C Figueiredo, Daniel D Buchanan, Aung K Win, John L Hopper, Mark A Jenkins, Noralane M Lindor, Polly A Newcomb, Steven Gallinger, David Conti, Fred Schumacher, Graham Casey, Lauri A Aaltonen, Jeremy P Cheadle, Ian P Tomlinson, Malcolm G Dunlop, Richard S Houlston
While elevated blood cholesterol has been associated with an increased risk of colorectal cancer (CRC) in observational studies, causality is uncertain. Here we apply a Mendelian randomisation (MR) analysis to examine the potential causal relationship between lipid traits and CRC risk. We used single nucleotide polymorphisms (SNPs) associated with blood levels of total cholesterol (TC), triglyceride (TG), low-density lipoprotein (LDL), and high-density lipoprotein (HDL) as instrumental variables (IV). We calculated MR estimates for each risk factor with CRC using SNP-CRC associations from 9,254 cases and 18,386 controls...
March 24, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28267917/optical-signatures-of-quantum-emitters-in-suspended-hexagonal-boron-nitride
#4
Annemarie L Exarhos, David A Hopper, Richard R Grote, Audrius Alkauskas, Lee C Bassett
Hexagonal boron nitride (h-BN) is rapidly emerging as an attractive material for solid-state quantum engineering. Analogously to three-dimensional wide-band-gap semiconductors such as diamond, h-BN hosts isolated defects exhibiting visible fluorescence at room temperature, and the ability to position such quantum emitters within a two-dimensional material promises breakthrough advances in quantum sensing, photonics, and other quantum technologies. Critical to such applications is an understanding of the physics underlying h-BN's quantum emission...
March 28, 2017: ACS Nano
https://www.readbyqxmd.com/read/28005736/management-of-the-repeatedly-failed-cranioplasty-following-large-postdecompressive-craniectomy-establishing-the-efficacy-of-staged-free-latissimus-dorsi-transfer-tissue-expansion-custom-polyetheretherketone-implant-reconstruction
#5
Gerhard S Mundinger, Kerry Latham, Jeffery Friedrich, Otway Louie, Hakim Said, Craig Birgfeld, Richard Ellenbogen, Richard A Hopper
BACKGROUND: Postdecompressive craniotomy defect management following failed prior cranioplastyis challenging. The authors describe a staged technique utilizing free muscle transfer, tissue expansion, and custom polyetheretherketone (PEEK) implants for the management of previously failed cranioplasty sites in patients with complicating local factors. METHODS: Consecutive patients with previously failed cranioplasties following large decompressive craniectomies underwent reconstruction of skull and soft tissue defects with staged free latissimus muscle transfer, tissue expansion, and placement of custom computer-aided design and modeling PEEK implants with a 'temporalis-plus' modification to minimize temporal hollowing...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27723779/genome-wide-interaction-analyses-between-genetic-variants-and-alcohol-consumption-and-smoking-for-risk-of-colorectal-cancer
#6
Jian Gong, Carolyn M Hutter, Polly A Newcomb, Cornelia M Ulrich, Stephanie A Bien, Peter T Campbell, John A Baron, Sonja I Berndt, Stephane Bezieau, Hermann Brenner, Graham Casey, Andrew T Chan, Jenny Chang-Claude, Mengmeng Du, David Duggan, Jane C Figueiredo, Steven Gallinger, Edward L Giovannucci, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister, John L Hopper, Thomas J Hudson, Jihyoun Jeon, Mark A Jenkins, Jonathan Kocarnik, Sébastien Küry, Loic Le Marchand, Yi Lin, Noralane M Lindor, Reiko Nishihara, Shuji Ogino, John D Potter, Anja Rudolph, Robert E Schoen, Petra Schrotz-King, Daniela Seminara, Martha L Slattery, Stephen N Thibodeau, Mark Thornquist, Reka Toth, Robert Wallace, Emily White, Shuo Jiao, Mathieu Lemire, Li Hsu, Ulrike Peters
Genome-wide association studies (GWAS) have identified many genetic susceptibility loci for colorectal cancer (CRC). However, variants in these loci explain only a small proportion of familial aggregation, and there are likely additional variants that are associated with CRC susceptibility. Genome-wide studies of gene-environment interactions may identify variants that are not detected in GWAS of marginal gene effects. To study this, we conducted a genome-wide analysis for interaction between genetic variants and alcohol consumption and cigarette smoking using data from the Colon Cancer Family Registry (CCFR) and the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO)...
October 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27673519/crowdsourcing-as-a-novel-method-to-evaluate-aesthetic-outcomes-of-treatment-for-unilateral-cleft-lip
#7
Raymond W Tse, Eugene Oh, Joseph S Gruss, Richard A Hopper, Craig B Birgfeld
BACKGROUND: Lack of convenient and reliable methods to grade aesthetic outcomes limits the ability to study results and optimize treatment of unilateral cleft lip. Crowdsourcing methods solicit contributions from a large group to achieve a greater task. The authors hypothesized that crowdsourcing could be used to reliably grade aesthetic outcomes of unilateral cleft lip. METHODS: Fifty deidentified photographs of 8- to 10-year-old subjects (46 with unilateral cleft lip and four controls) were assembled...
October 2016: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27577985/pre-breeding-beef-heifer-management-and-season-affect-mid-to-late-gestation-uterine-artery-hemodynamics
#8
Amanda J Cain, Caleb O Lemley, F Kevin Walters, David L Christiansen, E Heath King, Richard M Hopper
The objective of the present study was to evaluate the effects of beef heifer development practices and the influence of season on uterine artery hemodynamics during mid to late gestation. Metrics of uterine artery blood flow (BF) of fall calving and spring calving crossbred beef heifers (n = 27) developed on either a low-input (LOW|FALL n = 6; LOW|SPRING n = 6) or a conventional (CON|FALL n = 9; CON|SPRING n = 6) heifer development scheme were evaluated. Heifer body weight (BW) was measured every 30 days, and uterine BF, arterial diameter (AD), pulsatility index (PI), and resistance index were measured for uterine arteries ipsilateral and contralateral to the conceptus on days 180, 210, and 240 of gestation...
January 1, 2017: Theriogenology
https://www.readbyqxmd.com/read/27490804/genome-wide-measures-of-dna-methylation-in-peripheral-blood-and-the-risk-of-urothelial-cell-carcinoma-a-prospective-nested-case-control-study
#9
Pierre-Antoine Dugué, Maree T Brinkman, Roger L Milne, Ee Ming Wong, Liesel M FitzGerald, Julie K Bassett, Jihoon E Joo, Chol-Hee Jung, Enes Makalic, Daniel F Schmidt, Daniel J Park, Jessica Chung, Anthony D Ta, Damien M Bolton, Andrew Lonie, Anthony Longano, John L Hopper, Gianluca Severi, Richard Saffery, Dallas R English, Melissa C Southey, Graham G Giles
BACKGROUND: Global DNA methylation has been reported to be associated with urothelial cell carcinoma (UCC) by studies using blood samples collected at diagnosis. Using the Illumina HumanMethylation450 assay, we derived genome-wide measures of blood DNA methylation and assessed them for their prospective association with UCC risk. METHODS: We used 439 case-control pairs from the Melbourne Collaborative Cohort Study matched on age, sex, country of birth, DNA sample type, and collection period...
September 6, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27379672/fine-mapping-of-common-genetic-variants-associated-with-colorectal-tumor-risk-identified-potential-functional-variants
#10
Mengmeng Du, Shuo Jiao, Stephanie A Bien, Manish Gala, Goncalo Abecasis, Stephane Bezieau, Hermann Brenner, Katja Butterbach, Bette J Caan, Christopher S Carlson, Graham Casey, Jenny Chang-Claude, David V Conti, Keith R Curtis, David Duggan, Steven Gallinger, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister, John L Hopper, Thomas J Hudson, Mark A Jenkins, Sébastien Küry, Loic Le Marchand, Suzanne M Leal, Polly A Newcomb, Deborah A Nickerson, John D Potter, Robert E Schoen, Fredrick R Schumacher, Daniela Seminara, Martha L Slattery, Li Hsu, Andrew T Chan, Emily White, Sonja I Berndt, Ulrike Peters
Genome-wide association studies (GWAS) have identified many common single nucleotide polymorphisms (SNPs) associated with colorectal cancer risk. These SNPs may tag correlated variants with biological importance. Fine-mapping around GWAS loci can facilitate detection of functional candidates and additional independent risk variants. We analyzed 11,900 cases and 14,311 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. To fine-map genomic regions containing all known common risk variants, we imputed high-density genetic data from the 1000 Genomes Project...
2016: PloS One
https://www.readbyqxmd.com/read/27367042/studies-toward-understanding-the-sar-around-the-sulfoximine-moiety-of-the-sap-feeding-insecticide-sulfoxaflor
#11
Ann M Buysse, Benjamin M Nugent, Nick X Wang, Zoltan Benko, Nneka Breaux, Richard Rogers, Yuanming Zhu
BACKGROUND: The discovery of sulfoxaflor (Isoclast™ active) stemmed from a novel scaffold-based approach toward identifying bioactive molecules. It exhibits broad-spectrum control of many sap-feeding insect pests, including aphids, whiteflies, hoppers and Lygus. Systematic modifications of the substituents flanking each side of the sulfoximine moiety were carried out to determine whether these changes would improve potency. RESULTS: Structure-activity relationship (SAR) studies showed that, with respect to the methylene linker, both mono- and disubstitution with alkyl groups of varying sizes as well as cyclic analogs exhibited excellent control of cotton aphids...
April 2017: Pest Management Science
https://www.readbyqxmd.com/read/27336604/mendelian-randomisation-analysis-strongly-implicates-adiposity-with-risk-of-developing-colorectal-cancer
#12
David Jarvis, Jonathan S Mitchell, Philip J Law, Kimmo Palin, Sari Tuupanen, Alexandra Gylfe, Ulrika A Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Jaakko Kaprio, Johan G Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Heikki Järvinen, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Meklin, Nada A Al-Tassan, Claire Palles, Lynn Martin, Ella Barclay, Susan M Farrington, Maria N Timofeeva, Brian F Meyer, Salma M Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Timothy S Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Daniel D Buchanan, Aung K Win, John L Hopper, Mark A Jenkins, Noralane M Lindor, Polly A Newcomb, Steve Gallinger, David Conti, Fred Schumacher, Graham Casey, Jussi Taipale, Lauri A Aaltonen, Jeremy P Cheadle, Malcolm G Dunlop, Ian P Tomlinson, Richard S Houlston
BACKGROUND: Observational studies have associated adiposity with an increased risk of colorectal cancer (CRC). However, such studies do not establish a causal relationship. To minimise bias from confounding we performed a Mendelian randomisation (MR) analysis to examine the relationship between adiposity and CRC. METHODS: We used SNPs associated with adult body mass index (BMI), waist-hip ratio (WHR), childhood obesity and birth weight as instrumental variables in a MR analysis of 9254 CRC cases and 18 386 controls...
July 12, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27272183/cohort-profile-the-tasmanian-longitudinal-health-study-tahs
#13
Melanie C Matheson, Michael J Abramson, Katrina Allen, Geza Benke, John A Burgess, James G Dowty, Bircan Erbas, Iain H Feather, Peter A Frith, Graham G Giles, Lyle C Gurrin, Garun S Hamilton, John L Hopper, Alan L James, Mark A Jenkins, David P Johns, Caroline J Lodge, Adrian J Lowe, James Markos, Stephen C Morrison, Jennifer L Perret, Melissa C Southey, Paul S Thomas, Bruce R Thompson, Richard Wood-Baker, Eugene Haydn Walters, Shyamali C Dharmage
No abstract text is available yet for this article.
June 6, 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/27269948/age-and-tumor-subtype-specific-breast-cancer-risk-estimates-for-chek2-1100delc-carriers
#14
Marjanka K Schmidt, Frans Hogervorst, Richard van Hien, Sten Cornelissen, Annegien Broeks, Muriel A Adank, Hanne Meijers, Quinten Waisfisz, Antoinette Hollestelle, Mieke Schutte, Ans van den Ouweland, Maartje Hooning, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Antonis C Antoniou, Volker Arndt, Marina Bermisheva, Natalia V Bogdanova, Manjeet K Bolla, Hiltrud Brauch, Hermann Brenner, Thomas Brüning, Barbara Burwinkel, Jenny Chang-Claude, Georgia Chenevix-Trench, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Alison M Dunning, Peter A Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Eva Galle, Montserrat García-Closas, Graham G Giles, Lothar Haeberle, Per Hall, Peter Hillemanns, John L Hopper, Anna Jakubowska, Esther M John, Michael Jones, Elza Khusnutdinova, Julia A Knight, Veli-Matti Kosma, Vessela Kristensen, Andrew Lee, Annika Lindblom, Jan Lubinski, Arto Mannermaa, Sara Margolin, Alfons Meindl, Roger L Milne, Taru A Muranen, Polly A Newcomb, Kenneth Offit, Tjoung-Won Park-Simon, Julian Peto, Paul D P Pharoah, Mark Robson, Anja Rudolph, Elinor J Sawyer, Rita K Schmutzler, Caroline Seynaeve, Julie Soens, Melissa C Southey, Amanda B Spurdle, Harald Surowy, Anthony Swerdlow, Rob A E M Tollenaar, Ian Tomlinson, Amy Trentham-Dietz, Celine Vachon, Qin Wang, Alice S Whittemore, Argyrios Ziogas, Lizet van der Kolk, Heli Nevanlinna, Thilo Dörk, Stig Bojesen, Douglas F Easton
PURPOSE: CHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2*1100delC...
August 10, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27233372/laboratory-evaluation-for-pediatric-patients-with-suspected-necrotizing-soft-tissue-infections-a-case-control-study
#15
MULTICENTER STUDY
Luke R Putnam, Morgan K Richards, Brinkley K Sandvall, Richard A Hopper, John H T Waldhausen, Matthew T Harting
BACKGROUND/PURPOSE: Optimal outcomes for necrotizing soft tissue infections (NSTI) depend on rapid diagnosis and management. The Laboratory Risk Indicator for Necrotizing Fasciitis (LRINEC) score is a validated diagnostic tool for adult NSTI, but its value for children remains unknown. We hypothesized that modification of the LRINEC score may increase its diagnostic accuracy for pediatric NSTI. METHODS: We performed a case-control study of pediatric patients (age <18) with NSTI (cases) and patients with severe soft tissue infections prompting surgical consultation (controls)...
June 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27197191/cross-cancer-genome-wide-analysis-of-lung-ovary-breast-prostate-and-colorectal-cancer-reveals-novel-pleiotropic-associations
#16
Gordon Fehringer, Peter Kraft, Paul D Pharoah, Rosalind A Eeles, Nilanjan Chatterjee, Fredrick R Schumacher, Joellen M Schildkraut, Sara Lindström, Paul Brennan, Heike Bickeböller, Richard S Houlston, Maria Teresa Landi, Neil Caporaso, Angela Risch, Ali Amin Al Olama, Sonja I Berndt, Edward L Giovannucci, Henrik Grönberg, Zsofia Kote-Jarai, Jing Ma, Kenneth Muir, Meir J Stampfer, Victoria L Stevens, Fredrik Wiklund, Walter C Willett, Ellen L Goode, Jennifer B Permuth, Harvey A Risch, Brett M Reid, Stephane Bezieau, Hermann Brenner, Andrew T Chan, Jenny Chang-Claude, Thomas J Hudson, Jonathan K Kocarnik, Polly A Newcomb, Robert E Schoen, Martha L Slattery, Emily White, Muriel A Adank, Habibul Ahsan, Kristiina Aittomäki, Laura Baglietto, Carl Blomquist, Federico Canzian, Kamila Czene, Isabel Dos-Santos-Silva, A Heather Eliassen, Jonine D Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Montserrat Garcia-Closas, Mia M Gaudet, Nichola Johnson, Per Hall, Aditi Hazra, Rebecca Hein, Albert Hofman, John L Hopper, Astrid Irwanto, Mattias Johansson, Rudolf Kaaks, Muhammad G Kibriya, Peter Lichtner, Jianjun Liu, Eiliv Lund, Enes Makalic, Alfons Meindl, Bertram Müller-Myhsok, Taru A Muranen, Heli Nevanlinna, Petra H Peeters, Julian Peto, Ross L Prentice, Nazneen Rahman, Maria Jose Sanchez, Daniel F Schmidt, Rita K Schmutzler, Melissa C Southey, Rulla Tamimi, Ruth C Travis, Clare Turnbull, Andre G Uitterlinden, Zhaoming Wang, Alice S Whittemore, Xiaohong R Yang, Wei Zheng, Daniel D Buchanan, Graham Casey, David V Conti, Christopher K Edlund, Steven Gallinger, Robert W Haile, Mark Jenkins, Loïc Le Marchand, Li Li, Noralene M Lindor, Stephanie L Schmit, Stephen N Thibodeau, Michael O Woods, Thorunn Rafnar, Julius Gudmundsson, Simon N Stacey, Kari Stefansson, Patrick Sulem, Y Ann Chen, Jonathan P Tyrer, David C Christiani, Yongyue Wei, Hongbing Shen, Zhibin Hu, Xiao-Ou Shu, Kouya Shiraishi, Atsushi Takahashi, Yohan Bossé, Ma'en Obeidat, David Nickle, Wim Timens, Matthew L Freedman, Qiyuan Li, Daniela Seminara, Stephen J Chanock, Jian Gong, Ulrike Peters, Stephen B Gruber, Christopher I Amos, Thomas A Sellers, Douglas F Easton, David J Hunter, Christopher A Haiman, Brian E Henderson, Rayjean J Hung
Identifying genetic variants with pleiotropic associations can uncover common pathways influencing multiple cancers. We took a two-stage approach to conduct genome-wide association studies for lung, ovary, breast, prostate, and colorectal cancer from the GAME-ON/GECCO Network (61,851 cases, 61,820 controls) to identify pleiotropic loci. Findings were replicated in independent association studies (55,789 cases, 330,490 controls). We identified a novel pleiotropic association at 1q22 involving breast and lung squamous cell carcinoma, with eQTL analysis showing an association with ADAM15/THBS3 gene expression in lung...
September 1, 2016: Cancer Research
https://www.readbyqxmd.com/read/27135401/five-endometrial-cancer-risk-loci-identified-through-genome-wide-association-analysis
#17
Timothy H T Cheng, Deborah J Thompson, Tracy A O'Mara, Jodie N Painter, Dylan M Glubb, Susanne Flach, Annabelle Lewis, Juliet D French, Luke Freeman-Mills, David Church, Maggie Gorman, Lynn Martin, Shirley Hodgson, Penelope M Webb, John Attia, Elizabeth G Holliday, Mark McEvoy, Rodney J Scott, Anjali K Henders, Nicholas G Martin, Grant W Montgomery, Dale R Nyholt, Shahana Ahmed, Catherine S Healey, Mitul Shah, Joe Dennis, Peter A Fasching, Matthias W Beckmann, Alexander Hein, Arif B Ekici, Per Hall, Kamila Czene, Hatef Darabi, Jingmei Li, Thilo Dörk, Matthias Dürst, Peter Hillemanns, Ingo Runnebaum, Frederic Amant, Stefanie Schrauwen, Hui Zhao, Diether Lambrechts, Jeroen Depreeuw, Sean C Dowdy, Ellen L Goode, Brooke L Fridley, Stacey J Winham, Tormund S Njølstad, Helga B Salvesen, Jone Trovik, Henrica M J Werner, Katie Ashton, Geoffrey Otton, Tony Proietto, Tao Liu, Miriam Mints, Emma Tham, Mulin Jun Li, Shun H Yip, Junwen Wang, Manjeet K Bolla, Kyriaki Michailidou, Qin Wang, Jonathan P Tyrer, Malcolm Dunlop, Richard Houlston, Claire Palles, John L Hopper, Julian Peto, Anthony J Swerdlow, Barbara Burwinkel, Hermann Brenner, Alfons Meindl, Hiltrud Brauch, Annika Lindblom, Jenny Chang-Claude, Fergus J Couch, Graham G Giles, Vessela N Kristensen, Angela Cox, Julie M Cunningham, Paul D P Pharoah, Alison M Dunning, Stacey L Edwards, Douglas F Easton, Ian Tomlinson, Amanda B Spurdle
We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation and meta-analysis identified five new risk loci of genome-wide significance at likely regulatory regions on chromosomes 13q22.1 (rs11841589, near KLF5), 6q22.31 (rs13328298, in LOC643623 and near HEY2 and NCOA7), 8q24.21 (rs4733613, telomeric to MYC), 15q15.1 (rs937213, in EIF2AK4, near BMF) and 14q32...
June 2016: Nature Genetics
https://www.readbyqxmd.com/read/27094481/anti-m%C3%A3-llerian-hormone-serum-concentrations-of-women-with-germline-brca1-or-brca2-mutations
#18
Kelly-Anne Phillips, Ian M Collins, Roger L Milne, Sue Anne McLachlan, Michael Friedlander, Martha Hickey, Catharyn Stern, John L Hopper, Richard Fisher, Gordon Kannemeyer, Sandra Picken, Charmaine D Smith, Thomas W Kelsey, Richard A Anderson
STUDY QUESTION: Do women with ITALIC! BRCA1 or ITALIC! BRCA2 mutations have reduced ovarian reserve, as measured by circulating anti-Müllerian hormone (AMH) concentration? SUMMARY ANSWER: Women with a germline mutation in ITALIC! BRCA1 have reduced ovarian reserve as measured by AMH. WHAT IS KNOWN ALREADY: The DNA repair enzymes encoded by ITALIC! BRCA1 and ITALIC! BRCA2 are implicated in reproductive aging. Circulating AMH is a biomarker of ovarian reserve and hence reproductive lifespan...
May 2016: Human Reproduction
https://www.readbyqxmd.com/read/27039689/management-of-male-reproductive-tract-injuries-and-disease
#19
REVIEW
Richard M Hopper
Medical and surgical management can be used to restore a bull that has suffered a reproductive tract malady. The economic cost of treatment weighed against the bull's replacement value as well as prognosis for recovery is of prime consideration. In turn, early recognition of a treatable condition and immediate initiation of action are factors that impact both treatment cost and prognosis in many cases. Common problems are penile hair rings, fibropapillomas, vesicular adenitis, penile hematoma, and traumatic injury to the prepuce...
July 2016: Veterinary Clinics of North America. Food Animal Practice
https://www.readbyqxmd.com/read/27005424/variation-at-2q35-pnkd-and-tmbim1-influences-colorectal-cancer-risk-and-identifies-a-pleiotropic-effect-with-inflammatory-bowel-disease
#20
Giulia Orlando, Philip J Law, Kimmo Palin, Sari Tuupanen, Alexandra Gylfe, Ulrika A Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Jaakko Kaprio, Johan G Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Heikki Järvinen, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Nada A Al-Tassan, Claire Palles, Lynn Martin, Ella Barclay, Albert Tenesa, Susan Farrington, Maria N Timofeeva, Brian F Meyer, Salma M Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Timothy S Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Daniel D Buchanan, Aung Ko Win, John Hopper, Mark Jenkins, Noralane M Lindor, Polly A Newcomb, Steve Gallinger, David Conti, Fred Schumacher, Graham Casey, Jussi Taipale, Jeremy P Cheadle, Malcolm G Dunlop, Ian P Tomlinson, Lauri A Aaltonen, Richard S Houlston
To identify new risk loci for colorectal cancer (CRC), we conducted a meta-analysis of seven genome-wide association studies (GWAS) with independent replication, totalling 13 656 CRC cases and 21 667 controls of European ancestry. The combined analysis identified a new risk association for CRC at 2q35 marked by rs992157 (P = 3.15 × 10(-8), odds ratio = 1.10, 95% confidence interval = 1.06-1.13), which is intronic to PNKD (paroxysmal non-kinesigenic dyskinesia) and TMBIM1 (transmembrane BAX inhibitor motif containing 1)...
June 1, 2016: Human Molecular Genetics
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