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https://www.readbyqxmd.com/read/27920499/smart-nanocrystals-of-artemether-fabrication-characterization-and-comparative-in-vitro-and-in-vivo-antimalarial-evaluation
#1
Syed Muhammad Hassan Shah, Farhat Ullah, Shahzeb Khan, Syed Muhammad Mukarram Shah, Marcel de Matas, Zahid Hussain, Muhammad Usman Minhas, Naser M AbdEl-Salam, Khaled Hafez Assi, Mohammad Isreb
Artemether (ARTM) is a very effective antimalarial drug with poor solubility and consequently low bioavailability. Smart nanocrystals of ARTM with particle size of 161±1.5 nm and polydispersity index of 0.172±0.01 were produced in <1 hour using a wet milling technology, Dena(®) DM-100. The crystallinity of the processed ARTM was confirmed using differential scanning calorimetry and powder X-ray diffraction. The saturation solubility of the ARTM nanocrystals was substantially increased to 900 µg/mL compared to the raw ARTM in water (145...
2016: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/27914971/once-weekly-ofatumumab-in-untreated-or-relapsed-waldenstr%C3%A3-m-s-macroglobulinaemia-an-open-label-single-arm-phase-2-study
#2
Richard R Furman, Herbert A Eradat, Christine G DiRienzo, Craig C Hofmeister, Suzanne R Hayman, John P Leonard, Morton Coleman, Ranjana Advani, Asher Chanan-Khan, Julie Switzky, Qiming M Liao, Damini Shah, Roxanne C Jewell, Steen Lisby, Thomas S Lin
BACKGROUND: The development of more effective and safer treatments, especially non-chemotherapeutics, is needed for patients with Waldenström's macroglobulinaemia. The aim of the study was to assess the safety and clinical activity of intravenous ofatumumab monotherapy for untreated and relapsed Waldenström's macroglobulinaemia. METHODS: We did a phase 2, open-label, single-arm study at six centres (hospitals and cancer clinics) in the USA. Patients aged at least 18 years who were diagnosed with untreated or relapsed Waldenström's macroglobulinaemia and required treatment, received up to three cycles of weekly ofatumumab for 5 weeks...
November 30, 2016: Lancet Haematology
https://www.readbyqxmd.com/read/27898572/sexually-transmitted-infections-and-associated-risk-factors-among-street-based-and-residence-based-female-sex-workers-in-dhaka-bangladesh
#3
Rasheda Khanam, Masud Reza, Dilruba Ahmed, Mustafizur Rahman, M Shah Alam, Salima Sultana, Anadil Alam, Sharful I Khan, Kenneth H Mayer, Tasnim Azim
BACKGROUND: Female sex workers (FSWs) in Bangladesh remain at elevated risk of sexually transmitted infections (STIs) although the human immunodeficiency virus (HIV) prevalence among them is low. Recent information on the burden and etiological diagnosis of STIs among them has been lacking. This study examines prevalence and risk behaviors of selected STIs among FSWs in Dhaka in 2014. METHODS: Between August and October 2014, a cross-sectional study was conducted among street-based and residence-based FSWs receiving HIV prevention services at 24 drop in centers in Dhaka...
November 28, 2016: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/27860058/patient-experiences-of-a-bariatric-group-programme-for-managing-obesity-a-qualitative-interview-study
#4
Mark Tarrant, Sammyh S Khan, Claire V Farrow, Pooja Shah, Mark Daly, Katarina Kos
OBJECTIVES: People with obesity experience a range of physical and psychological ill-health outcomes. This study examined patients' experiences of a group-based programme for the management of morbid obesity delivered within the UK National Health Service. The focus of the study was on the emerging dynamic of the group and patients' perceptions of its impact on health outcomes. DESIGN: A qualitative interview study was conducted and involved patients recruited from a Tier 3 bariatric service in South West England...
November 17, 2016: British Journal of Health Psychology
https://www.readbyqxmd.com/read/27829814/quinoline-based-furanones-and-their-nitrogen-analogues-docking-synthesis-and-biological-evaluation
#5
Sukhbir Lal Khokra, Jyoti, Chetan, Pawan Kaushik, M M Alam, M S Zaman, Aftab Ahmad, Shah Alam Khan, Asif Husain
A small library of twenty-four quinoline based butenolides also known as furanones and their nitrogen analogues was prepared by using two different aroylpropionic acids, viz. 3-(2-naphthoyl)propionic acid (3) and 3-(biphenyl-4-yl)propionic acid (4), as starting materials. The 3-aroylpropionic acids were reacted with different 6-substituted-2-chloroquinolin-3-carbaldehydes (2a-d) to obtain the corresponding furan-2(3H)-ones (5a-h). The purified and characterized furanones were then converted into their corresponding 2(3H)-pyrrolones (6a-h) and N-benzyl-pyrrol-2(3H)-ones (7a-h)...
November 2016: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/27711073/genetic-modifiers-of-chek2-1100delc-associated-breast-cancer-risk
#6
Taru A Muranen, Dario Greco, Carl Blomqvist, Kristiina Aittomäki, Sofia Khan, Frans Hogervorst, Senno Verhoef, Paul D P Pharoah, Alison M Dunning, Mitul Shah, Robert Luben, Stig E Bojesen, Børge G Nordestgaard, Minouk Schoemaker, Anthony Swerdlow, Montserrat García-Closas, Jonine Figueroa, Thilo Dörk, Natalia V Bogdanova, Per Hall, Jingmei Li, Elza Khusnutdinova, Marina Bermisheva, Vessela Kristensen, Anne-Lise Borresen-Dale, Nbcs Investigators, Julian Peto, Isabel Dos Santos Silva, Fergus J Couch, Janet E Olson, Peter Hillemans, Tjoung-Won Park-Simon, Hiltrud Brauch, Ute Hamann, Barbara Burwinkel, Frederik Marme, Alfons Meindl, Rita K Schmutzler, Angela Cox, Simon S Cross, Elinor J Sawyer, Ian Tomlinson, Diether Lambrechts, Matthieu Moisse, Annika Lindblom, Sara Margolin, Antoinette Hollestelle, John W M Martens, Peter A Fasching, Matthias W Beckmann, Irene L Andrulis, Julia A Knight, kConFab/Aocs Investigators, Hoda Anton-Culver, Argyrios Ziogas, Graham G Giles, Roger L Milne, Hermann Brenner, Volker Arndt, Arto Mannermaa, Veli-Matti Kosma, Jenny Chang-Claude, Anja Rudolph, Peter Devilee, Caroline Seynaeve, John L Hopper, Melissa C Southey, Esther M John, Alice S Whittemore, Manjeet K Bolla, Qin Wang, Kyriaki Michailidou, Joe Dennis, Douglas F Easton, Marjanka K Schmidt, Heli Nevanlinna
PURPOSE: CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC). METHODS: Using genotype data from 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction...
October 6, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27689390/nacl-dependent-ordering-and-dynamic-mechanical-response-in-nanoconfined-water
#7
Shah H Khan, Edward L Kramkowski, Peter M Hoffmann
Understanding the dynamics of water under nanoscale confinement is important for biology, geology, tribology, and nanotechnology. In many naturally occurring situations, ions are present in water at various concentrations. Here we report on how the addition of sodium ions alters the squeeze-out behavior of water nanoconfined between a mica surface and silicon oxide tip. We find that Na(+) ions enhance molecular ordering and lead to longer mechanical relaxation times. We also observed a critical ion concentration, above which the confined water switches from a viscous to an elastic (solid-like) response at very slow, quasistatic compression speeds...
October 10, 2016: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/27640304/evidence-that-the-5p12-variant-rs10941679-confers-susceptibility-to-estrogen-receptor-positive-breast-cancer-through-fgf10-and-mrps30-regulation
#8
Maya Ghoussaini, Juliet D French, Kyriaki Michailidou, Silje Nord, Jonathan Beesley, Sander Canisus, Kristine M Hillman, Susanne Kaufmann, Haran Sivakumaran, Mahdi Moradi Marjaneh, Jason S Lee, Joe Dennis, Manjeet K Bolla, Qin Wang, Ed Dicks, Roger L Milne, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Javier Benitez, Anna González-Neira, M Rosario Alonso, Guillermo Pita, Susan L Neuhausen, Hoda Anton-Culver, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Daniel C Tessier, Daniel Vincent, Heli Nevanlinna, Sofia Khan, Keitaro Matsuo, Hidemi Ito, Thilo Dörk, Natalia V Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli-Matti Kosma, Anna H Wu, David Van Den Berg, Diether Lambrechts, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Monica Barile, Fergus J Couch, Emily Hallberg, Graham G Giles, Christopher A Haiman, Loic Le Marchand, Mark S Goldberg, Soo H Teo, Cheng Har Yip, Anne-Lise Borresen-Dale, Wei Zheng, Qiuyin Cai, Robert Winqvist, Katri Pylkäs, Irene L Andrulis, Peter Devilee, Rob A E M Tollenaar, Montserrat García-Closas, Jonine Figueroa, Per Hall, Kamila Czene, Judith S Brand, Hatef Darabi, Mikael Eriksson, Maartje J Hooning, Linetta B Koppert, Jingmei Li, Xiao-Ou Shu, Ying Zheng, Angela Cox, Simon S Cross, Mitul Shah, Valerie Rhenius, Ji-Yeob Choi, Daehee Kang, Mikael Hartman, Kee Seng Chia, Maria Kabisch, Diana Torres, Craig Luccarini, Don M Conroy, Anna Jakubowska, Jan Lubinski, Suleeporn Sangrajrang, Paul Brennan, Curtis Olswold, Susan Slager, Chen-Yang Shen, Ming-Feng Hou, Anthony Swerdlow, Minouk J Schoemaker, Jacques Simard, Paul D P Pharoah, Vessela Kristensen, Georgia Chenevix-Trench, Douglas F Easton, Alison M Dunning, Stacey L Edwards
Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495-45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER(+)) breast cancer (per-g allele OR ER(+) = 1...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27601076/functional-mechanisms-underlying-pleiotropic-risk-alleles-at-the-19p13-1-breast-ovarian-cancer-susceptibility-locus
#9
Kate Lawrenson, Siddhartha Kar, Karen McCue, Karoline Kuchenbaeker, Kyriaki Michailidou, Jonathan Tyrer, Jonathan Beesley, Susan J Ramus, Qiyuan Li, Melissa K Delgado, Janet M Lee, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Banu K Arun, Brita Arver, Elisa V Bandera, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, Matthias W Beckmann, Javier Benitez, Andrew Berchuck, Maria Bisogna, Line Bjorge, Carl Blomqvist, William Blot, Natalia Bogdanova, Anders Bojesen, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Anne-Lise Børresen-Dale, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Fiona Bruinsma, Joan Brunet, Shaik Ahmad Buhari, Barbara Burwinkel, Ralf Butzow, Saundra S Buys, Qiuyin Cai, Trinidad Caldes, Ian Campbell, Rikki Canniotto, Jenny Chang-Claude, Jocelyne Chiquette, Ji-Yeob Choi, Kathleen B M Claes, Linda S Cook, Angela Cox, Daniel W Cramer, Simon S Cross, Cezary Cybulski, Kamila Czene, Mary B Daly, Francesca Damiola, Agnieszka Dansonka-Mieszkowska, Hatef Darabi, Joe Dennis, Peter Devilee, Orland Diez, Jennifer A Doherty, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Martine Dumont, Hans Ehrencrona, Bent Ejlertsen, Steve Ellis, Christoph Engel, Eunjung Lee, D Gareth Evans, Peter A Fasching, Lidia Feliubadalo, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Lenka Foretova, Florentia Fostira, William D Foulkes, Brooke L Fridley, Eitan Friedman, Debra Frost, Gaetana Gambino, Patricia A Ganz, Judy Garber, Montserrat García-Closas, Aleksandra Gentry-Maharaj, Maya Ghoussaini, Graham G Giles, Rosalind Glasspool, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Ellen L Goode, Marc T Goodman, Mark H Greene, Jacek Gronwald, Pascal Guénel, Christopher A Haiman, Per Hall, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Patricia A Harrington, Mikael Hartman, Norhashimah Hassan, Sue Healey, Florian Heitz, Josef Herzog, Estrid Høgdall, Claus K Høgdall, Frans B L Hogervorst, Antoinette Hollestelle, John L Hopper, Peter J Hulick, Tomasz Huzarski, Evgeny N Imyanitov, Claudine Isaacs, Hidemi Ito, Anna Jakubowska, Ramunas Janavicius, Allan Jensen, Esther M John, Nichola Johnson, Maria Kabisch, Daehee Kang, Miroslav Kapuscinski, Beth Y Karlan, Sofia Khan, Lambertus A Kiemeney, Susanne Kruger Kjaer, Julia A Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela Kristensen, Jolanta Kupryjanczyk, Ava Kwong, Miguel de la Hoya, Yael Laitman, Diether Lambrechts, Nhu Le, Kim De Leeneer, Jenny Lester, Douglas A Levine, Jingmei Li, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jennifer T Loud, Karen Lu, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Loic Le Marchand, Sara Margolin, Frederik Marme, Leon F A G Massuger, Keitaro Matsuo, Sylvie Mazoyer, Lesley McGuffog, Catriona McLean, Iain McNeish, Alfons Meindl, Usha Menon, Arjen R Mensenkamp, Roger L Milne, Marco Montagna, Kirsten B Moysich, Kenneth Muir, Anna Marie Mulligan, Katherine L Nathanson, Roberta B Ness, Susan L Neuhausen, Heli Nevanlinna, Silje Nord, Robert L Nussbaum, Kunle Odunsi, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Janet E Olson, Curtis Olswold, David O'Malley, Irene Orlow, Nick Orr, Ana Osorio, Sue Kyung Park, Celeste L Pearce, Tanja Pejovic, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Elizabeth M Poole, Katri Pylkäs, Paolo Radice, Johanna Rantala, Muhammad Usman Rashid, Gad Rennert, Valerie Rhenius, Kerstin Rhiem, Harvey A Risch, Gus Rodriguez, Mary Anne Rossing, Anja Rudolph, Helga B Salvesen, Suleeporn Sangrajrang, Elinor J Sawyer, Joellen M Schildkraut, Marjanka K Schmidt, Rita K Schmutzler, Thomas A Sellers, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Weiva Sieh, Christian F Singer, Olga M Sinilnikova, Susan Slager, Honglin Song, Penny Soucy, Melissa C Southey, Marie Stenmark-Askmalm, Dominique Stoppa-Lyonnet, Christian Sutter, Anthony Swerdlow, Sandrine Tchatchou, Manuel R Teixeira, Soo H Teo, Kathryn L Terry, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Amanda Ewart Toland, Ian Tomlinson, Diana Torres, Thérèse Truong, Chiu-Chen Tseng, Nadine Tung, Shelley S Tworoger, Celine Vachon, Ans M W van den Ouweland, Helena C van Doorn, Elizabeth J van Rensburg, Laura J Van't Veer, Adriaan Vanderstichele, Ignace Vergote, Joseph Vijai, Qin Wang, Shan Wang-Gohrke, Jeffrey N Weitzel, Nicolas Wentzensen, Alice S Whittemore, Hans Wildiers, Robert Winqvist, Anna H Wu, Drakoulis Yannoukakos, Sook-Yee Yoon, Jyh-Cherng Yu, Wei Zheng, Ying Zheng, Kum Kum Khanna, Jacques Simard, Alvaro N Monteiro, Juliet D French, Fergus J Couch, Matthew L Freedman, Douglas F Easton, Alison M Dunning, Paul D Pharoah, Stacey L Edwards, Georgia Chenevix-Trench, Antonis C Antoniou, Simon A Gayther
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3))...
September 7, 2016: Nature Communications
https://www.readbyqxmd.com/read/27600471/fine-scale-mapping-of-the-17q22-breast-cancer-locus-using-dense-snps-genotyped-within-the-collaborative-oncological-gene-environment-study-cogs
#10
Hatef Darabi, Jonathan Beesley, Arnaud Droit, Siddhartha Kar, Silje Nord, Mahdi Moradi Marjaneh, Penny Soucy, Kyriaki Michailidou, Maya Ghoussaini, Hanna Fues Wahl, Manjeet K Bolla, Qin Wang, Joe Dennis, M Rosario Alonso, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Javier Benitez, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Thomas Brüning, Barbara Burwinkel, Jenny Chang-Claude, Ji-Yeob Choi, Don M Conroy, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Douglas F Easton, Peter A Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Eva Galle, Montserrat García-Closas, Graham G Giles, Mark S Goldberg, Anna González-Neira, Pascal Guénel, Christopher A Haiman, Emily Hallberg, Ute Hamann, Mikael Hartman, Antoinette Hollestelle, John L Hopper, Hidemi Ito, Anna Jakubowska, Nichola Johnson, Daehee Kang, Sofia Khan, Veli-Matti Kosma, Mieke Kriege, Vessela Kristensen, Diether Lambrechts, Loic Le Marchand, Soo Chin Lee, Annika Lindblom, Artitaya Lophatananon, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Keitaro Matsuo, Rebecca Mayes, James McKay, Alfons Meindl, Roger L Milne, Kenneth Muir, Susan L Neuhausen, Heli Nevanlinna, Curtis Olswold, Nick Orr, Paolo Peterlongo, Guillermo Pita, Katri Pylkäs, Anja Rudolph, Suleeporn Sangrajrang, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Melissa C Southey, Daniel O Stram, Harald Surowy, Anthony Swerdlow, Soo H Teo, Daniel C Tessier, Ian Tomlinson, Diana Torres, Thérèse Truong, Celine M Vachon, Daniel Vincent, Robert Winqvist, Anna H Wu, Pei-Ei Wu, Cheng Har Yip, Wei Zheng, Paul D P Pharoah, Per Hall, Stacey L Edwards, Jacques Simard, Juliet D French, Georgia Chenevix-Trench, Alison M Dunning
Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0...
September 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27595890/doxorubicin-loaded-photosensitive-magnetic-liposomes-for-multi-modal-cancer-therapy
#11
Saqlain A Shah, M U Aslam Khan, M Arshad, S U Awan, M U Hashmi, N Ahmad
Multifunctional magnetic nanosystems have attracted an enormous attention of researchers for their potential applications in cancer diagnostics and therapy. The localized nanotherapies triggered by the external stimuli, like magnetic fields and visible light, are significant in clinical applications. We report a liposomal system that aims to treat cancer by magnetic hyperthermia, photodynamic therapy and chemotherapy simultaneously. The liposomes enclose clinically used photosensitizer m-THPC (Foscan) and anti-cancer drug doxorubicin, in its hydrophobic lipid bilayers, and contains magnetite nanoparticles in hydrophilic core...
August 31, 2016: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/27556229/fine-mapping-of-the-1p11-2-breast-cancer-susceptibility-locus
#12
Hisani N Horne, Charles C Chung, Han Zhang, Kai Yu, Ludmila Prokunina-Olsson, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Javier Benitez, Anna González-Neira, Hoda Anton-Culver, Susan L Neuhausen, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Heli Nevanlinna, Sofia Khan, Keitaro Matsuo, Hiroji Iwata, Thilo Dörk, Natalia V Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli-Matti Kosma, Georgia Chenevix-Trench, Anna H Wu, David Ven den Berg, Ann Smeets, Hui Zhao, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Monica Barile, Fergus J Couch, Celine Vachon, Graham G Giles, Roger L Milne, Christopher A Haiman, Loic Le Marchand, Mark S Goldberg, Soo H Teo, Nur A M Taib, Vessela Kristensen, Anne-Lise Borresen-Dale, Wei Zheng, Martha Shrubsole, Robert Winqvist, Arja Jukkola-Vuorinen, Irene L Andrulis, Julia A Knight, Peter Devilee, Caroline Seynaeve, Montserrat García-Closas, Kamila Czene, Hatef Darabi, Antoinette Hollestelle, John W M Martens, Jingmei Li, Wei Lu, Xiao-Ou Shu, Angela Cox, Simon S Cross, William Blot, Qiuyin Cai, Mitul Shah, Craig Luccarini, Caroline Baynes, Patricia Harrington, Daehee Kang, Ji-Yeob Choi, Mikael Hartman, Kee Seng Chia, Maria Kabisch, Diana Torres, Anna Jakubowska, Jan Lubinski, Suleeporn Sangrajrang, Paul Brennan, Susan Slager, Drakoulis Yannoukakos, Chen-Yang Shen, Ming-Feng Hou, Anthony Swerdlow, Nick Orr, Jacques Simard, Per Hall, Paul D P Pharoah, Douglas F Easton, Stephen J Chanock, Alison M Dunning, Jonine D Figueroa
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array...
2016: PloS One
https://www.readbyqxmd.com/read/27552907/designing-the-angiogenic-inhibitor-for-brain-tumor-via-disruption-of-vegf-and-il17a-expression
#13
Md Shamsuddin Sultan Khan, Amin Malik Shah Abdul Majid, Muhammad Adnan Iqbal, Aman Shah Abdul Majid, Majed Al-Mansoub, Rosenani S M Anwarul Haque
Glioblastoma multiforme is a highly malignant, heterogenic, and drug resistant tumor. The blood-brain barrier (BBB), systemic cytotoxicity, and limited specificity are the main obstacles in designing brain tumor drugs. In this study a computational approach was used to design brain tumor drugs that could downregulate VEGF and IL17A in glioblastoma multiforme type four. Computational screening tools were used to evaluate potential candidates for antiangiogenic activity, target binding, BBB permeability, and ADME physicochemical properties...
October 10, 2016: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/27517765/search-for-resonant-production-of-high-mass-photon-pairs-in-proton-proton-collisions-at-sqrt-s-8-and-13%C3%A2-tev
#14
V Khachatryan, A M Sirunyan, A Tumasyan, W Adam, E Asilar, T Bergauer, J Brandstetter, E Brondolin, M Dragicevic, J Erö, M Flechl, M Friedl, R Frühwirth, V M Ghete, C Hartl, N Hörmann, J Hrubec, M Jeitler, A König, I Krätschmer, D Liko, T Matsushita, I Mikulec, D Rabady, N Rad, B Rahbaran, H Rohringer, J Schieck, J Strauss, W Treberer-Treberspurg, W Waltenberger, C-E Wulz, V Mossolov, N Shumeiko, J Suarez Gonzalez, S Alderweireldt, E A De Wolf, X Janssen, J Lauwers, M Van De Klundert, H Van Haevermaet, P Van Mechelen, N Van Remortel, A Van Spilbeeck, S Abu Zeid, F Blekman, J D'Hondt, N Daci, I De Bruyn, K Deroover, N Heracleous, S Lowette, S Moortgat, L Moreels, A Olbrechts, Q Python, S Tavernier, W Van Doninck, P Van Mulders, I Van Parijs, H Brun, C Caillol, B Clerbaux, G De Lentdecker, H Delannoy, G Fasanella, L Favart, R Goldouzian, A Grebenyuk, G Karapostoli, T Lenzi, A Léonard, J Luetic, T Maerschalk, A Marinov, A Randle-Conde, T Seva, C Vander Velde, P Vanlaer, R Yonamine, F Zenoni, F Zhang, A Cimmino, T Cornelis, D Dobur, A Fagot, G Garcia, M Gul, D Poyraz, S Salva, R Schöfbeck, M Tytgat, W Van Driessche, E Yazgan, N Zaganidis, H Bakhshiansohi, C Beluffi, O Bondu, S Brochet, G Bruno, A Caudron, S De Visscher, C Delaere, M Delcourt, B Francois, A Giammanco, A Jafari, P Jez, M Komm, V Lemaitre, A Magitteri, A Mertens, M Musich, C Nuttens, K Piotrzkowski, L Quertenmont, M Selvaggi, M Vidal Marono, S Wertz, N Beliy, W L Aldá Júnior, F L Alves, G A Alves, L Brito, C Hensel, A Moraes, M E Pol, P Rebello Teles, E Belchior Batista Das Chagas, W Carvalho, J Chinellato, A Custódio, E M Da Costa, G G Da Silveira, D De Jesus Damiao, C De Oliveira Martins, S Fonseca De Souza, L M Huertas Guativa, H Malbouisson, D Matos Figueiredo, C Mora Herrera, L Mundim, H Nogima, W L Prado Da Silva, A Santoro, A Sznajder, E J Tonelli Manganote, A Vilela Pereira, S Ahuja, C A Bernardes, S Dogra, T R Fernandez Perez Tomei, E M Gregores, P G Mercadante, C S Moon, S F Novaes, Sandra S 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Klein, V Krutelyov, J Letts, I Macneill, D Olivito, S Padhi, M Pieri, M Sani, V Sharma, S Simon, M Tadel, A Vartak, S Wasserbaech, C Welke, J Wood, F Würthwein, A Yagil, G Zevi Della Porta, R Bhandari, J Bradmiller-Feld, C Campagnari, A Dishaw, V Dutta, K Flowers, M Franco Sevilla, P Geffert, C George, F Golf, L Gouskos, J Gran, R Heller, J Incandela, N Mccoll, S D Mullin, A Ovcharova, J Richman, D Stuart, I Suarez, C West, J Yoo, D Anderson, A Apresyan, J Bendavid, A Bornheim, J Bunn, Y Chen, J Duarte, J M Lawhorn, A Mott, H B Newman, C Pena, M Spiropulu, J R Vlimant, S Xie, R Y Zhu, M B Andrews, V Azzolini, T Ferguson, M Paulini, J Russ, M Sun, H Vogel, I Vorobiev, J P Cumalat, W T Ford, F Jensen, A Johnson, M Krohn, T Mulholland, K Stenson, S R Wagner, J Alexander, J Chaves, J Chu, S Dittmer, K Mcdermott, N Mirman, G Nicolas Kaufman, J R Patterson, A Rinkevicius, A Ryd, L Skinnari, L Soffi, S M Tan, Z Tao, J Thom, J Tucker, P Wittich, M Zientek, D Winn, S Abdullin, M Albrow, G Apollinari, S Banerjee, L A T Bauerdick, A Beretvas, J Berryhill, P C Bhat, G Bolla, K Burkett, J N Butler, H W K Cheung, F Chlebana, S Cihangir, M Cremonesi, V D Elvira, I Fisk, J Freeman, E Gottschalk, L Gray, D Green, S Grünendahl, O Gutsche, D Hare, R M Harris, S Hasegawa, J Hirschauer, Z Hu, B Jayatilaka, S Jindariani, M Johnson, U Joshi, B Klima, B Kreis, S Lammel, J Linacre, D Lincoln, R Lipton, T Liu, R Lopes De Sá, J Lykken, K Maeshima, N Magini, J M Marraffino, S Maruyama, D Mason, P McBride, P Merkel, S Mrenna, S Nahn, C Newman-Holmes, V O'Dell, K Pedro, O Prokofyev, G Rakness, L Ristori, E Sexton-Kennedy, A Soha, W J Spalding, L Spiegel, S Stoynev, N Strobbe, L Taylor, S Tkaczyk, N V Tran, L Uplegger, E W Vaandering, C Vernieri, M Verzocchi, R Vidal, M Wang, H A Weber, A Whitbeck, D Acosta, P Avery, P Bortignon, D Bourilkov, A Brinkerhoff, A Carnes, M Carver, D Curry, S Das, R D Field, I K Furic, J Konigsberg, A Korytov, P Ma, K Matchev, H Mei, P Milenovic, G Mitselmakher, D Rank, L Shchutska, D Sperka, L Thomas, J Wang, S Wang, J Yelton, S Linn, P Markowitz, G Martinez, J L Rodriguez, A Ackert, J R Adams, T Adams, A Askew, S Bein, B Diamond, S Hagopian, V Hagopian, K F Johnson, A Khatiwada, H Prosper, A Santra, M Weinberg, M M Baarmand, V Bhopatkar, S Colafranceschi, M Hohlmann, D Noonan, T Roy, F Yumiceva, M R Adams, L Apanasevich, D Berry, R R Betts, I Bucinskaite, R Cavanaugh, O Evdokimov, L Gauthier, C E Gerber, D J Hofman, P Kurt, C O'Brien, I D Sandoval Gonzalez, P Turner, N Varelas, H Wang, Z Wu, M Zakaria, J Zhang, B Bilki, W Clarida, K Dilsiz, S Durgut, R P Gandrajula, M Haytmyradov, V Khristenko, J-P Merlo, H Mermerkaya, A Mestvirishvili, A Moeller, J Nachtman, H Ogul, Y Onel, F Ozok, A Penzo, C Snyder, E Tiras, J Wetzel, K Yi, I Anderson, B Blumenfeld, A Cocoros, N Eminizer, D Fehling, L Feng, A V Gritsan, P Maksimovic, M Osherson, J Roskes, U Sarica, M Swartz, M Xiao, Y Xin, C You, A Al-Bataineh, P Baringer, A Bean, S Boren, J Bowen, C Bruner, J Castle, L Forthomme, R P Kenny, A Kropivnitskaya, D Majumder, W Mcbrayer, M Murray, S Sanders, R Stringer, J D Tapia Takaki, Q Wang, A Ivanov, K Kaadze, S Khalil, M Makouski, Y Maravin, A Mohammadi, L K Saini, N Skhirtladze, S Toda, F Rebassoo, D Wright, C Anelli, A Baden, O Baron, A Belloni, B Calvert, S C Eno, C Ferraioli, J A Gomez, N J Hadley, S Jabeen, R G Kellogg, T Kolberg, J Kunkle, Y Lu, A C Mignerey, Y H Shin, A Skuja, M B Tonjes, S C Tonwar, D Abercrombie, B Allen, A Apyan, R Barbieri, A Baty, R Bi, K Bierwagen, S Brandt, W Busza, I A Cali, Z Demiragli, L Di Matteo, G Gomez Ceballos, M Goncharov, D Hsu, Y Iiyama, G M Innocenti, M Klute, D Kovalskyi, K Krajczar, Y S Lai, Y-J Lee, A Levin, P D Luckey, A C Marini, C Mcginn, C Mironov, S Narayanan, X Niu, C Paus, C Roland, G Roland, J Salfeld-Nebgen, G S F Stephans, K Sumorok, K Tatar, M Varma, D Velicanu, J Veverka, J Wang, T W Wang, B Wyslouch, M Yang, V Zhukova, A C Benvenuti, R M Chatterjee, A Evans, A Finkel, A Gude, P Hansen, S Kalafut, S C Kao, Y Kubota, Z Lesko, J Mans, S Nourbakhsh, N Ruckstuhl, R Rusack, N Tambe, J Turkewitz, J G Acosta, S Oliveros, E Avdeeva, R Bartek, K Bloom, D R Claes, A Dominguez, C Fangmeier, R Gonzalez Suarez, R Kamalieddin, I Kravchenko, A Malta Rodrigues, F Meier, J Monroy, J E Siado, G R Snow, B Stieger, M Alyari, J Dolen, J George, A Godshalk, C Harrington, I Iashvili, J Kaisen, A Kharchilava, A Kumar, A Parker, S Rappoccio, B Roozbahani, G Alverson, E Barberis, D Baumgartel, A Hortiangtham, B Knapp, A Massironi, D M Morse, D Nash, T Orimoto, R Teixeira De Lima, D Trocino, R-J Wang, D Wood, S Bhattacharya, K A Hahn, A Kubik, A Kumar, J F Low, N Mucia, N Odell, B Pollack, M H Schmitt, K Sung, M Trovato, M Velasco, N Dev, M Hildreth, K Hurtado Anampa, C Jessop, D J Karmgard, N Kellams, K Lannon, N Marinelli, F Meng, C Mueller, Y Musienko, M Planer, A Reinsvold, R Ruchti, G Smith, S Taroni, M Wayne, M Wolf, A Woodard, J Alimena, L Antonelli, J Brinson, B Bylsma, L S Durkin, S Flowers, B Francis, A Hart, C Hill, R Hughes, W Ji, B Liu, W Luo, D Puigh, B L Winer, H W Wulsin, S Cooperstein, O Driga, P Elmer, J Hardenbrook, P Hebda, D Lange, J Luo, D Marlow, T Medvedeva, K Mei, M Mooney, J Olsen, C Palmer, P Piroué, D Stickland, C Tully, A Zuranski, S Malik, A Barker, V E Barnes, S Folgueras, L Gutay, M K Jha, M Jones, A W Jung, K Jung, D H Miller, N Neumeister, X Shi, J Sun, A Svyatkovskiy, F Wang, W Xie, L Xu, N Parashar, J Stupak, A Adair, B Akgun, Z Chen, K M Ecklund, F J M Geurts, M Guilbaud, W Li, B Michlin, M Northup, B P Padley, R Redjimi, J Roberts, J Rorie, Z Tu, J Zabel, B Betchart, A Bodek, P de Barbaro, R Demina, Y T Duh, T Ferbel, M Galanti, A Garcia-Bellido, J Han, O Hindrichs, A Khukhunaishvili, K H Lo, P Tan, M Verzetti, J P Chou, E Contreras-Campana, Y Gershtein, T A Gómez Espinosa, E Halkiadakis, M Heindl, D Hidas, E Hughes, S Kaplan, R Kunnawalkam Elayavalli, S Kyriacou, A Lath, K Nash, H Saka, S Salur, S Schnetzer, D Sheffield, S Somalwar, R Stone, S Thomas, P Thomassen, M Walker, M Foerster, J Heideman, G Riley, K Rose, S Spanier, K Thapa, O Bouhali, A Celik, M Dalchenko, M De Mattia, A Delgado, S Dildick, R Eusebi, J Gilmore, T Huang, E Juska, T Kamon, R Mueller, Y Pakhotin, R Patel, A Perloff, L Perniè, D Rathjens, A Rose, A Safonov, A Tatarinov, K A Ulmer, N Akchurin, C Cowden, J Damgov, C Dragoiu, P R Dudero, J Faulkner, S Kunori, K Lamichhane, S W Lee, T Libeiro, S Undleeb, I Volobouev, Z Wang, A G Delannoy, S Greene, A Gurrola, R Janjam, W Johns, C Maguire, A Melo, H Ni, P Sheldon, S Tuo, J Velkovska, Q Xu, M W Arenton, P Barria, B Cox, J Goodell, R Hirosky, A Ledovskoy, H Li, C Neu, T Sinthuprasith, Y Wang, E Wolfe, F Xia, C Clarke, R Harr, P E Karchin, P Lamichhane, J Sturdy, D A Belknap, S Dasu, L Dodd, S Duric, B Gomber, M Grothe, M Herndon, A Hervé, P Klabbers, A Lanaro, A Levine, K Long, R Loveless, I Ojalvo, T Perry, G A Pierro, G Polese, T Ruggles, A Savin, A Sharma, N Smith, W H Smith, D Taylor, N Woods
A search for the resonant production of high-mass photon pairs is presented. The analysis is based on samples of proton-proton collision data collected by the CMS experiment at center-of-mass energies of 8 and 13 TeV, corresponding to integrated luminosities of 19.7 and 3.3  fb^{-1}, respectively. The interpretation of the search results focuses on spin-0 and spin-2 resonances with masses between 0.5 and 4 TeV and with widths, relative to the mass, between 1.4×10^{-4} and 5.6×10^{-2}. Limits are set on scalar resonances produced through gluon-gluon fusion, and on Randall-Sundrum gravitons...
July 29, 2016: Physical Review Letters
https://www.readbyqxmd.com/read/27508573/-op-8c-08-interaction-between-peripheral-alpha-adrenergic-receptors-and-neuronal-nitric-oxide-synthase
#15
F Khan, S Jiang, B Farukh, S Brett, A M Shah, P Chowienczyk
OBJECTIVE: Vascular tone is influenced by release of norepinephrine (NE) from sympathetic nerves and by nitric oxide (NO) released from perivascular neuronal NO synthase (nNOS). nNOS appears a more important physiological determinant of vascular tone than endothelial NO synthase (eNOS), particularly when stimulated by stress. Thus vascular tone is determined mainly by the balance of the two neurally released mediators, NE tending to constrict and NO to dilate vascular smooth muscle. Indirect observations suggest there may be cross-talk between peripheral α-adrenergic receptors and nNOS signalling...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27478231/ultrasound-treatment-effect-on-physicochemical-microbial-and-antioxidant-properties-of-cherry-prunus-avium
#16
Sabeera Muzaffar, Mudasir Ahmad, S M Wani, Adil Gani, Waqas N Baba, Umar Shah, Asma Ashraf Khan, F A Masoodi, Asir Gani, Touseef Ahmed Wani
The cherry was treated with ultrasonic waves (33 kHz, 60 W) at different time intervals (10, 20, 30, 40, 60 min) and study was carried out to analyze the change in physico-chemical properties (TSS, pH, color, acidity and firmness), antioxidant potential and microbial load of the fruit during the storage period of 15 days at 4 °C. It was observed that ultrasound treatment (US) between 30 and 40 min showed better retention of color of the fruit during the storage period. The antioxidant assays (DPPH, ABTS and TPC) also increased significantly (P ≤ 0...
June 2016: Journal of Food Science and Technology
https://www.readbyqxmd.com/read/27438445/cervical-instability-in-pierre-robin-sequence-an-addition-to-the-algorithm
#17
Rebecca M Barr, Sabina A Khan, Manish N Shah, Soham Roy, John F Teichgraeber, Matthew R Greives
Many patients with Pierre Robin sequence (PRS) have associated birth defects, most commonly in association with abnormalities in bone or cartilage formation. Depending on severity, treatment of PRS ranges from nonoperative management with prone positioning to surgical intervention such as distraction osteogenesis. Generally, if a surgical approach is needed, these patients undergo nasal endoscopy or direct laryngoscopy with their intubation, which puts the cervical spine in a position of extreme extension. The authors present a patient with syndromic PRS secondary to Sticklers syndrome, with a cervical abnormality diagnosed with three-dimensional computed tomography and further evaluated with dynamic lateral plain x-rays to assess cervical instability...
October 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27402876/an-intergenic-risk-locus-containing-an-enhancer-deletion-in-2q35-modulates-breast-cancer-risk-by-deregulating-igfbp5-expression
#18
Asaf Wyszynski, Chi-Chen Hong, Kristin Lam, Kyriaki Michailidou, Christian Lytle, Song Yao, Yali Zhang, Manjeet K Bolla, Qin Wang, Joe Dennis, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Julian Peto, Isabel Dos-Santos-Silva, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Børge G Nordestgaard, Anna González-Neira, Javier Benitez, Susan L Neuhausen, Hermann Brenner, Aida Karina Dieffenbach, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Heli Nevanlinna, Sofia Khan, Keitaro Matsuo, Hidemi Ito, Thilo Dörk, Natalia V Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli-Matti Kosma, Anna H Wu, David Van Den Berg, Diether Lambrechts, Hans Wildiers, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Paolo Peterlongo, Fergus J Couch, Janet E Olson, Graham G Giles, Roger L Milne, Christopher A Haiman, Brian E Henderson, Martine Dumont, Soo Hwang Teo, Tien Y Wong, Vessela Kristensen, Wei Zheng, Jirong Long, Robert Winqvist, Katri Pylkäs, Irene L Andrulis, Julia A Knight, Peter Devilee, Caroline Seynaeve, Montserrat García-Closas, Jonine Figueroa, Daniel Klevebring, Kamila Czene, Maartje J Hooning, Ans M W van den Ouweland, Hatef Darabi, Xiao-Ou Shu, Yu-Tang Gao, Angela Cox, William Blot, Lisa B Signorello, Mitul Shah, Daehee Kang, Ji-Yeob Choi, Mikael Hartman, Hui Miao, Ute Hamann, Anna Jakubowska, Jan Lubinski, Suleeporn Sangrajrang, James McKay, Amanda E Toland, Drakoulis Yannoukakos, Chen-Yang Shen, Pei-Ei Wu, Anthony Swerdlow, Nick Orr, Jacques Simard, Paul D P Pharoah, Alison M Dunning, Georgia Chenevix-Trench, Per Hall, Elisa Bandera, Chris Amos, Christine Ambrosone, Douglas F Easton, Michael D Cole
Breast cancer is the most diagnosed malignancy and the second leading cause of cancer mortality in females. Previous association studies have identified variants on 2q35 associated with the risk of breast cancer. To identify functional susceptibility loci for breast cancer, we interrogated the 2q35 gene desert for chromatin architecture and functional variation correlated with gene expression. We report a novel intergenic breast cancer risk locus containing an enhancer copy number variation (enCNV; deletion) located approximately 400Kb upstream to IGFBP5, which overlaps an intergenic ERα-bound enhancer that loops to the IGFBP5 promoter...
July 11, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27398543/fabrication-and-magnetic-properties-of-sn-doped-zno-microstructures-via-hydrothermal-method
#19
M Hassan Farooq, Riaz Hussain, M Zubair Iqbal, M W Shah, Usman Ali Rana, Salah Ud-Din Khan
Pure zinc oxide (ZnO) and Sn-doped ZnO hexagonal sheets were synthesized by template free hydrothermal growth mechanism with controlled morphology by using zinc acetate dihydrate (Zn(CH₃COO)₂· 2H₂O), tin chloride pentahydrate (SnCl₄ · 5H₂O), Polyvinylpyrrolidone (PVP) and H₂O as precursors. The structural, physical, chemical, and magnetic characteristics were investigated by X-ray diffraction, field-emission scanning electron microscopy, energy dispersive X-ray spectroscopy and alternating gradient magnetometer (AGM), respectively...
January 2016: Journal of Nanoscience and Nanotechnology
https://www.readbyqxmd.com/read/27375115/mutational-spectrum-of-myo15a-and-the-molecular-mechanisms-of-dfnb3-human-deafness
#20
Atteeq U Rehman, Jonathan E Bird, Rabia Faridi, Mohsin Shahzad, Sujay Shah, Kwanghyuk Lee, Shaheen N Khan, Ayesha Imtiaz, Zubair M Ahmed, Saima Riazuddin, Regie Lyn P Santos-Cortez, Wasim Ahmad, Suzanne M Leal, Sheikh Riazuddin, Thomas B Friedman
Deafness in humans is a common neurosensory disorder and is genetically heterogeneous. Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the third or fourth most common cause of autosomal-recessive, nonsyndromic deafness. In 49 of the 67 exons of MYO15A, there are currently 192 recessive mutations identified, including 14 novel mutations reported here. These mutations are distributed uniformly across MYO15A with one enigmatic exception; the alternatively spliced giant exon 2, encoding 1,233 residues, has 17 truncating mutations but no convincing deafness-causing missense mutations...
October 2016: Human Mutation
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