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https://www.readbyqxmd.com/read/29656860/truncating-variants-in-naa15-are-associated-with-variable-levels-of-intellectual-disability-autism-spectrum-disorder-and-congenital-anomalies
#1
Hanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E Posey, Sarah R Crews, Mohammad K Eldomery, Zeynep Coban Akdemir, Andrea M Lewis, Vernon R Sutton, Jill A Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A High, Marjon A van Slegtenhorst, Grazia M S Mancini, Candice R Finnila, Arie van Haeringen, Nicolette den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael J Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S Beighley, Raphael A Bernier, Sébastien Küry, Mathilde Nizon, Mark A Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J Jongmans, Bert B A de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K Rojas, Kym M Boycott, Richard Person, Rebecca Willaert, Evan E Eichler, R Frank Kooy, Yaping Yang, Joseph C Wu, James R Lupski, Thomas Arnesen, Gregory M Cooper, Wendy K Chung, Jozef Gecz, Holly A F Stessman, Linyan Meng, Gholson J Lyon
N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of the NatA complex, NAA15, is the dimeric binding partner for NAA10. Through a genotype-first approach with whole-exome or genome sequencing (WES/WGS) and targeted sequencing analysis, we identified and phenotypically characterized 38 individuals from 33 unrelated families with 25 different de novo or inherited, dominantly acting likely gene disrupting (LGD) variants in NAA15...
April 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29618844/dyslipidaemia-in-vivo-genome-editing-of-angptl3-a-therapy-for-atherosclerosis
#2
June-Wha Rhee, Joseph C Wu
No abstract text is available yet for this article.
April 5, 2018: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/29617673/mitochondrial-complex-i-inhibitors-expose-a-vulnerability-for-selective-killing-of-pten-null-cells
#3
Adam Naguib, Grinu Mathew, Colleen R Reczek, Kaitlin Watrud, Alexandra Ambrico, Tali Herzka, Irene Casanova Salas, Matthew F Lee, Nour El-Amine, Wu Zheng, M Emilia Di Francesco, Joseph R Marszalek, Darryl J Pappin, Navdeep S Chandel, Lloyd C Trotman
A hallmark of advanced prostate cancer (PC) is the concomitant loss of PTEN and p53 function. To selectively eliminate such cells, we screened cytotoxic compounds on Pten-/- ;Trp53-/- fibroblasts and their Pten-WT reference. Highly selective killing of Pten-null cells can be achieved by deguelin, a natural insecticide. Deguelin eliminates Pten-deficient cells through inhibition of mitochondrial complex I (CI). Five hundred-fold higher drug doses are needed to obtain the same killing of Pten-WT cells, even though deguelin blocks their electron transport chain equally well...
April 3, 2018: Cell Reports
https://www.readbyqxmd.com/read/29609596/training-community-healthcare-workers-on-the-use-of-information-and-communication-technologies-a-randomised-controlled-trial-of-traditional-versus-blended-learning-in-malawi-africa
#4
Nikolaos Mastellos, Tammy Tran, Kanika Dharmayat, Elizabeth Cecil, Hsin-Yi Lee, Cybele C Peng Wong, Winnie Mkandawire, Emmanuel Ngalande, Joseph Tsung-Shu Wu, Victoria Hardy, Baxter Griphin Chirambo, John Martin O'Donoghue
BACKGROUND: Despite the increasing uptake of information and communication technologies (ICT) within healthcare services across developing countries, community healthcare workers (CHWs) have limited knowledge to fully utilise computerised clinical systems and mobile apps. The 'Introduction to Information and Communication Technology and eHealth' course was developed with the aim to provide CHWs in Malawi, Africa, with basic knowledge and computer skills to use digital solutions in healthcare delivery...
April 2, 2018: BMC Medical Education
https://www.readbyqxmd.com/read/29604011/using-turbulence-scintillation-to-assist-object-ranging-from-a-single-camera-viewpoint
#5
Chensheng Wu, Jonathan Ko, Joseph Coffaro, Daniel A Paulson, John R Rzasa, Larry C Andrews, Ronald L Phillips, Robert Crabbs, Christopher C Davis
Image distortions caused by atmospheric turbulence are often treated as unwanted noise or errors in many image processing studies. Our study, however, shows that in certain scenarios the turbulence distortion can be very helpful in enhancing image processing results. This paper describes a novel approach that uses the scintillation traits recorded on a video clip to perform object ranging with reasonable accuracy from a single camera viewpoint. Conventionally, a single camera would be confused by the perspective viewing problem, where a large object far away looks the same as a small object close by...
March 20, 2018: Applied Optics
https://www.readbyqxmd.com/read/29595720/5000-free-flaps-and-counting-a-10-year-review-of-a-single-academic-institution-s-microsurgical-development-and-outcomes
#6
Martin J Carney, Jason M Weissler, Michael G Tecce, Michael N Mirzabeigi, Ari M Wes, Peter F Koltz, Suhail K Kanchwala, David W Low, Stephen J Kovach, Liza C Wu, Joseph M Serletti, Joshua Fosnot
BACKGROUND: The establishment of an effective clinical and academic culture within an institution is a multifactorial process. This process is cultivated by dynamic elements such as recruitment of an accomplished and diverse faculty, patient geographic outreach, clinical outcomes research, and fundamental support from all levels of an institution. This study reviews the academic evolution of a single academic plastic surgery practice, and summarizes a 10-year experience of microsurgical development, clinical outcomes, and academic productivity...
April 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29584862/racial-ethnic-differences-in-the-epidemiology-of-ovarian-cancer-a-pooled-analysis-of-12-case-control-studies
#7
Lauren C Peres, Harvey Risch, Kathryn L Terry, Penelope M Webb, Marc T Goodman, Anna H Wu, Anthony J Alberg, Elisa V Bandera, Jill Barnholtz-Sloan, Melissa L Bondy, Michele L Cote, Ellen Funkhouser, Patricia G Moorman, Edward S Peters, Ann G Schwartz, Paul D Terry, Ani Manichaikul, Sarah E Abbott, Fabian Camacho, Susan J Jordan, Christina M Nagle, Mary Anne Rossing, Jennifer A Doherty, Francesmary Modugno, Kirsten Moysich, Roberta Ness, Andrew Berchuck, Linda Cook, Nhu Le, Angela Brooks-Wilson, Weiva Sieh, Alice Whittemore, Valerie McGuire, Joseph Rothstein, Hoda Anton-Culver, Argyrios Ziogas, Celeste L Pearce, Chiuchen Tseng, Malcom Pike, Joellen M Schildkraut
No abstract text is available yet for this article.
March 23, 2018: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29579626/applications-of-genetically-engineered-human-pluripotent-stem-cell-reporters-in-cardiac-stem-cell-biology
#8
REVIEW
Joe Z Zhang, Hongchao Guo, Joseph C Wu
The advent of human pluripotent stem cells (hPSCs) has benefited many fields, from regenerative medicine to disease modeling, with an especially profound effect in cardiac research. Coupled with other novel technologies in genome engineering, hPSCs offer a great opportunity to delineate human cardiac lineages, investigate inherited cardiovascular diseases, and assess the safety and efficacy of cell-based therapies. In this review, we provide an overview of methods for generating genetically engineered hPSC reporters and a succinct synopsis of a variety of hPSC reporters, with a particular focus on their applications in cardiac stem cell biology...
March 23, 2018: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/29572320/decreased-camp-level-and-decreased-downregulation-of-%C3%AE-1-adrenoceptor-expression-in-therapeutic-hypothermia-resuscitated-myocardium-are-associated-with-improved-post-resuscitation-myocardial-function
#9
Wei Wang, Tianfeng Hua, Hao Li, Xiaobo Wu, Jennifer Bradley, Mary Ann Peberdy, Joseph P Ornato, Wanchun Tang
BACKGROUND: Epinephrine administered during cardiopulmonary resuscitation (CPR) is associated with severe post-resuscitation myocardial dysfunction. We previously demonstrated that therapeutic hypothermia reduced the severity of post-resuscitation myocardial dysfunction caused by epinephrine; however, the relationship between myocardial adrenoceptor expression and myocardial protective effects by hypothermia remains unclear. METHODS AND RESULTS: Rats weighing between 450 and 550 g were randomized into 5 groups: (1) normothermic placebo, (2) normothermic epinephrine, (3) hypothermic placebo, (4) hypothermic epinephrine, and (5) sham (not subject to cardiac arrest and resuscitation)...
March 23, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29559475/germline-mutations-in-lysine-specific-demethylase-1-lsd1-kdm1a-confer-susceptibility-to-multiple-myeloma
#10
Xiaomu Wei, M Nieves Calvo-Vidal, Siwei Chen, Gang Wu, Maria V Revuelta, Jian Sun, Jinghui Zhang, Michael F Walsh, Kim E Nichols, Vijai Joseph, Carrie Snyder, Celine M Vachon, James D McKay, Shu-Ping Wang, David S Jayabalan, Lauren M Jacobs, Dina Becirovic, Rosalie G Waller, Mykyta Artomov, Agnes Viale, Jayeshkumar Patel, Jude M Phillip, Selina Chen-Kiang, Karen Curtin, Mohamed Salama, Djordje Atanackovic, Ruben Niesvizky, Ola Landgren, Susan L Slager, Lucy A Godley, Jane Churpek, Judy E Garber, Kenneth C Anderson, Mark J Daly, Robert G Roeder, Charles Dumontet, Henry T Lynch, Charles G Mullighan, Nicola J Camp, Kenneth Offit, Robert J Klein, Haiyuan Yu, Leandro Cerchietti, Steven M Lipkin
Given the frequent and largely incurable occurrence of multiple myeloma (MM), identification of germline genetic mutations that predispose cells to MM may provide insight into disease etiology and the developmental mechanisms of its cell of origin, the plasma cell. Here we identified familial and early-onset MM kindreds with truncating mutations in lysine-specific demethylase 1 (LSD1/KDM1A), an epigenetic transcriptional repressor that primarily demethylates histone H3 on lysine 4 and regulates hematopoietic stem cell self-renewal...
March 20, 2018: Cancer Research
https://www.readbyqxmd.com/read/29555990/adult-height-is-associated-with-increased-risk-of-ovarian-cancer-a-mendelian-randomisation-study
#11
Suzanne C Dixon-Suen, Christina M Nagle, Aaron P Thrift, Paul D P Pharoah, Ailith Ewing, Celeste Leigh Pearce, Wei Zheng, Georgia Chenevix-Trench, Peter A Fasching, Matthias W Beckmann, Diether Lambrechts, Ignace Vergote, Sandrina Lambrechts, Els Van Nieuwenhuysen, Mary Anne Rossing, Jennifer A Doherty, Kristine G Wicklund, Jenny Chang-Claude, Audrey Y Jung, Kirsten B Moysich, Kunle Odunsi, Marc T Goodman, Lynne R Wilkens, Pamela J Thompson, Yurii B Shvetsov, Thilo Dörk, Tjoung-Won Park-Simon, Peter Hillemanns, Natalia Bogdanova, Ralf Butzow, Heli Nevanlinna, Liisa M Pelttari, Arto Leminen, Francesmary Modugno, Roberta B Ness, Robert P Edwards, Joseph L Kelley, Florian Heitz, Andreas du Bois, Philipp Harter, Ira Schwaab, Beth Y Karlan, Jenny Lester, Sandra Orsulic, Bobbie J Rimel, Susanne K Kjær, Estrid Høgdall, Allan Jensen, Ellen L Goode, Brooke L Fridley, Julie M Cunningham, Stacey J Winham, Graham G Giles, Fiona Bruinsma, Roger L Milne, Melissa C Southey, Michelle A T Hildebrandt, Xifeng Wu, Karen H Lu, Dong Liang, Douglas A Levine, Maria Bisogna, Joellen M Schildkraut, Andrew Berchuck, Daniel W Cramer, Kathryn L Terry, Elisa V Bandera, Sara H Olson, Helga B Salvesen, Liv Cecilie Vestrheim Thomsen, Reidun K Kopperud, Line Bjorge, Lambertus A Kiemeney, Leon F A G Massuger, Tanja Pejovic, Amanda Bruegl, Linda S Cook, Nhu D Le, Kenneth D Swenerton, Angela Brooks-Wilson, Linda E Kelemen, Jan Lubiński, Tomasz Huzarski, Jacek Gronwald, Janusz Menkiszak, Nicolas Wentzensen, Louise Brinton, Hannah Yang, Jolanta Lissowska, Claus K Høgdall, Lene Lundvall, Honglin Song, Jonathan P Tyrer, Ian Campbell, Diana Eccles, James Paul, Rosalind Glasspool, Nadeem Siddiqui, Alice S Whittemore, Weiva Sieh, Valerie McGuire, Joseph H Rothstein, Steven A Narod, Catherine Phelan, Harvey A Risch, John R McLaughlin, Hoda Anton-Culver, Argyrios Ziogas, Usha Menon, Simon A Gayther, Susan J Ramus, Aleksandra Gentry-Maharaj, Anna H Wu, Malcolm C Pike, Chiu-Chen Tseng, Jolanta Kupryjanczyk, Agnieszka Dansonka-Mieszkowska, Agnieszka Budzilowska, Iwona K Rzepecka, Penelope M Webb
BACKGROUND: Observational studies suggest greater height is associated with increased ovarian cancer risk, but cannot exclude bias and/or confounding as explanations for this. Mendelian randomisation (MR) can provide evidence which may be less prone to bias. METHODS: We pooled data from 39 Ovarian Cancer Association Consortium studies (16,395 cases; 23,003 controls). We applied two-stage predictor-substitution MR, using a weighted genetic risk score combining 609 single-nucleotide polymorphisms...
March 20, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29547885/induced-pluripotent-stem-cells-as-a-biopharmaceutical-factory-for-extracellular-vesicles
#12
Masataka Nishiga, Hongchao Guo, Joseph C Wu
No abstract text is available yet for this article.
March 13, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29540708/global-incidence-and-mortality-of-oesophageal-cancer-and-their-correlation-with-socioeconomic-indicators-temporal-patterns-and-trends-in-41-countries
#13
Martin C S Wong, Willie Hamilton, David C Whiteman, Johnny Y Jiang, Youlin Qiao, Franklin D H Fung, Harry H X Wang, Philip W Y Chiu, Enders K W Ng, Justin C Y Wu, Jun Yu, Francis K L Chan, Joseph J Y Sung
Oesophageal cancers (adenocarcinomas [AC] and squamous cell carcinomas [SCC]) are characterized by high incidence/mortality in many countries. We aimed to delineate its global incidence and mortality, and studied whether socioeconomic development and its incidence rate were correlated. The age-standardized rates (ASRs) of incidence and mortality of this medical condition in 2012 for 184 nations from the GLOBOCAN database; national databases capturing incidence rates, and the WHO mortality database were examined...
March 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29519889/modeling-human-diseases-with-induced-pluripotent-stem-cells-from-2d-to-3d-and-beyond
#14
Chun Liu, Angelos Oikonomopoulos, Nazish Sayed, Joseph C Wu
The advent of human induced pluripotent stem cells (iPSCs) presents unprecedented opportunities to model human diseases. Differentiated cells derived from iPSCs in two-dimensional (2D) monolayers have proven to be a relatively simple tool for exploring disease pathogenesis and underlying mechanisms. In this Spotlight article, we discuss the progress and limitations of the current 2D iPSC disease-modeling platform, as well as recent advancements in the development of human iPSC models that mimic in vivo tissues and organs at the three-dimensional (3D) level...
March 8, 2018: Development
https://www.readbyqxmd.com/read/29499155/setd7-drives-cardiac-lineage-commitment-through-stage-specific-transcriptional-activation
#15
Jaecheol Lee, Ning-Yi Shao, David T Paik, Haodi Wu, Hongchao Guo, Vittavat Termglinchan, Jared M Churko, Youngkyun Kim, Tomoya Kitani, Ming-Tao Zhao, Yue Zhang, Kitchener D Wilson, Ioannis Karakikes, Michael P Snyder, Joseph C Wu
Cardiac development requires coordinated and large-scale rearrangements of the epigenome. The roles and precise mechanisms through which specific epigenetic modifying enzymes control cardiac lineage specification, however, remain unclear. Here we show that the H3K4 methyltransferase SETD7 controls cardiac differentiation by reading H3K36 marks independently of its enzymatic activity. Through chromatin immunoprecipitation sequencing (ChIP-seq), we found that SETD7 targets distinct sets of genes to drive their stage-specific expression during cardiomyocyte differentiation...
March 1, 2018: Cell Stem Cell
https://www.readbyqxmd.com/read/29487114/erratum-engineering-glucose-responsiveness-into-insulin-diabetes-2018-67-299-308
#16
Niels C Kaarsholm, Songnian Lin, Lin Yan, Theresa Kelly, Margaret van Heek, James Mu, Margaret Wu, Ge Dai, Yan Cui, Yonghua Zhu, Ester Carballo-Jane, Vijay Reddy, Peter Zafian, Pei Huo, Shuai Shi, Valentyn Antochshuk, Aimie Ogawa, Franklin Liu, Sandra C Souza, Wolfgang Seghezzi, Joseph L Duffy, Mark Erion, Ravi P Nargund, David E Kelley
No abstract text is available yet for this article.
February 27, 2018: Diabetes
https://www.readbyqxmd.com/read/29485288/student-cyberloafing-in-and-out-of-the-classroom-in-china-and-the-relationship-with-student-performance
#17
Jinnan Wu, Wenjuan Mei, Joseph C Ugrin
This study investigates the in-class and out-of-class cyberloafing activities of students in China, and tests the relationship between those activities and academic performance. A sample of 1,050 undergraduate students at a large University in China reported their in-class (N = 548) and out-of-class (N = 502) cyberloafing activities, which were tested against the students' academic performance. The test results show a negative relationship between in-class cyberloafing and academic performance, but an inverted U-shaped relationship between out-of-class cyberloafing and academic performance...
February 27, 2018: Cyberpsychology, Behavior and Social Networking
https://www.readbyqxmd.com/read/29485048/improving-quality-and-consistency-in-nrg-oncology-radiation-therapy-oncology-group-0631-for-spine-radiosurgery-via-knowledge-based-planning
#18
Kelly C Younge, Robin B Marsh, Dawn Owen, Huaizhi Geng, Ying Xiao, Daniel E Spratt, Joseph Foy, Krithika Suresh, Q Jackie Wu, Fang-Fang Yin, Samuel Ryu, Martha M Matuszak
PURPOSE: To use knowledge-based planning (KBP) as a method of producing high-quality, consistent, protocol-compliant treatment plans in a complex setting of spine stereotactic body radiation therapy on NRG Oncology Radiation Therapy Oncology Group (RTOG) 0631. METHODS AND MATERIALS: An internally developed KBP model was applied to an external validation cohort of 22 anonymized cases submitted under NRG Oncology RTOG 0631. The original and KBP plans were compared via their protocol compliance, target conformity and gradient index, dose to critical structures, and dose to surrounding normal tissues...
March 15, 2018: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/29485047/american-association-of-physicists-in-medicine-task-group-263-standardizing-nomenclatures-in-radiation-oncology
#19
REVIEW
Charles S Mayo, Jean M Moran, Walter Bosch, Ying Xiao, Todd McNutt, Richard Popple, Jeff Michalski, Mary Feng, Lawrence B Marks, Clifton D Fuller, Ellen Yorke, Jatinder Palta, Peter E Gabriel, Andrea Molineu, Martha M Matuszak, Elizabeth Covington, Kathryn Masi, Susan L Richardson, Timothy Ritter, Tomasz Morgas, Stella Flampouri, Lakshmi Santanam, Joseph A Moore, Thomas G Purdie, Robert C Miller, Coen Hurkmans, Judy Adams, Qing-Rong Jackie Wu, Colleen J Fox, Ramon Alfredo Siochi, Norman L Brown, Wilko Verbakel, Yves Archambault, Steven J Chmura, Andre L Dekker, Don G Eagle, Thomas J Fitzgerald, Theodore Hong, Rishabh Kapoor, Beth Lansing, Shruti Jolly, Mary E Napolitano, James Percy, Mark S Rose, Salim Siddiqui, Christof Schadt, William E Simon, William L Straube, Sara T St James, Kenneth Ulin, Sue S Yom, Torunn I Yock
A substantial barrier to the single- and multi-institutional aggregation of data to supporting clinical trials, practice quality improvement efforts, and development of big data analytics resource systems is the lack of standardized nomenclatures for expressing dosimetric data. To address this issue, the American Association of Physicists in Medicine (AAPM) Task Group 263 was charged with providing nomenclature guidelines and values in radiation oncology for use in clinical trials, data-pooling initiatives, population-based studies, and routine clinical care by standardizing: (1) structure names across image processing and treatment planning system platforms; (2) nomenclature for dosimetric data (eg, dose-volume histogram [DVH]-based metrics); (3) templates for clinical trial groups and users of an initial subset of software platforms to facilitate adoption of the standards; (4) formalism for nomenclature schema, which can accommodate the addition of other structures defined in the future...
March 15, 2018: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/29481387/sifting-through-the-evidence-a-comprehensive-review-and-analysis-of-neurotization-in-breast-reconstruction
#20
Jason M Weissler, Peter F Koltz, Martin J Carney, Joseph M Serletti, Liza C Wu
BACKGROUND: An untoward outcome following breast reconstruction is diminished or complete loss of sensation. As the reconstructive paradigm continues to evolve, sensory restoration following reconstruction remains a research focus. Despite the multitude of published outcomes, there is marked heterogeneity across studies, thus confounding published outcomes. This study critically appraises the literature to summarize outcomes and establish a framework to guide clinical practice and future research...
March 2018: Plastic and Reconstructive Surgery
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