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2. Integrated intracellular organization and its variations in human iPS cells

Author

Viana, Matheus P., Chen, Jianxu, Knijnenburg, Theo A., Vasan, Ritvik, Yan, Calysta, Arakaki, Joy E., Bailey, Matte, Berry, Ben, Borensztejn, Antoine, Brown, Eva M., Carlson, Sara, Cass, Julie A., Chaudhuri, Basudev, Cordes Metzler, Kimberly R., Coston, Mackenzie E., Crabtree, Zach J., Davidson, Steve, DeLizo, Colette M., Dhaka, Shailja, Dinh, Stephanie Q., Do, Thao P., Domingus, Justin, Donovan-Maiye, Rory M., Ferrante, Alexandra J., Foster, Tyler J., Frick, Christopher L., Fujioka, Griffin, Fuqua, Margaret A., Gehring, Jamie L., Gerbin, Kaytlyn A., Grancharova, Tanya, Gregor, Benjamin W., Harrylock, Lisa J., Haupt, Amanda, Hendershott, Melissa C., Hookway, Caroline, Horwitz, Alan R., Hughes, H. Christopher, Isaac, Eric J., Johnson, Gregory R., Kim, Brian, Leonard, Andrew N., Leung, Winnie W., Lucas, Jordan J., Ludmann, Susan A., Lyons, Blair M., Malik, Haseeb, McGregor, Ryan, Medrash, Gabe E., Meharry, Sean L., Mitcham, Kevin, Mueller, Irina A., Murphy-Stevens, Timothy L., Nath, Aditya, Nelson, Angelique M., Oluoch, Sandra A., Paleologu, Luana, Popiel, T. Alexander, Riel-Mehan, Megan M., Roberts, Brock, Schaefbauer, Lisa M., Schwarzl, Magdalena, Sherman, Jamie, Slaton, Sylvain, Sluzewski, M. Filip, Smith, Jacqueline E., Sul, Youngmee, Swain-Bowden, Madison J., Tang, W. Joyce, Thirstrup, Derek J., Toloudis, Daniel M., Tucker, Andrew P., Valencia, Veronica, Wiegraebe, Winfried, Wijeratna, Thushara, Yang, Ruian, Zaunbrecher, Rebecca J., Labitigan, Ramon Lorenzo D., Sanborn, Adrian L., Johnson, Graham T., Gunawardane, Ruwanthi N., Gaudreault, Nathalie, Theriot, Julie A., and Rafelski, Susanne M.

Published
2023
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4. Genital Surgery Outcomes Using an Individualized Algorithm for Hormone Management in Transfeminine Individuals.

Author

Herndon, Justine, Gupta, Nidhi, Davidge-Pitts, Caroline, Imhof, Nicole, Gonzalez, Cesar, Carlson, Sara, Will, Marissa, Martinez-Jorge, Jorys, Fahradyan, Vahe, Tamire, Lily, Lin, Anna, Nippoldt, Todd B, and Chang, Alice Y

Subjects
PREOPERATIVE risk factors, THROMBOEMBOLISM, HORMONE therapy, BEHAVIORAL assessment, SURGICAL complications
Abstract

Context Transgender and gender diverse (TGD) individuals have greater access to genital surgery (GS) with improved insurance coverage and access to trained surgeons and interdisciplinary gender-affirming providers. Objective To determine perioperative medical and behavioral health outcomes in transfeminine (TF) individuals undergoing GS, with use of a specific gender-affirming hormone therapy (GAHT) algorithm based on individualized risk factor assessment. Methods In this retrospective observational cohort study, we collected preoperative and postoperative data from 183 TF individuals at a single tertiary referral center from 2017 to 2022, grouping patients by those who continued estradiol (Group 1) vs those who had temporarily discontinued estradiol for 2 to 6 weeks preoperatively (Group 2). Data included clinical and biochemical assessment, GAHT regimens, validated behavioral health measures, and postoperative complications. Main outcomes included venous thromboembolism (VTE) incidence, non-VTE postoperative complication incidence, and change in behavioral health assessments. Results The majority of individuals continued estradiol perioperatively (Group 1; 138 [75.4%]). Individuals who temporarily held estradiol preoperatively (Group 2; 45 [24.6%]) were statistically older (P <.01), had higher incidence of cardiometabolic comorbidities (P <.01), and higher Caprini scores (P <.01). Group 1 was statistically more likely to use oral estradiol (P <.01). One episode (0.05%) of VTE occurred (Group 1). There was no significant difference in postoperative complications or behavioral health measures between groups. Conclusion An individualized algorithm for preoperative hormone management for TF GS resulted in perioperative continuation of GAHT for the majority of individuals without significantly increasing the risk for postoperative surgical complications, while maintaining stable behavioral health measures perioperatively. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Using technical assistance to bridge evidence‐to‐action gaps in biodiversity conservation.

Author

Dubois, Natalie S., Safford, Katie, Hansen, Lexine, Roberts, Aradhana, and Carlson, Sara

Subjects
BIODIVERSITY conservation, CAPACITY building, TECHNICAL assistance, BROKERS, GOVERNMENT agencies
Abstract

The field of biodiversity conservation is in the midst of a cultural and practical transformation around evidence use, but the necessary institutional and technical support is still emerging. Over the past decade, the United States Agency for International Development (USAID) has invested in building institutional capacity for evidence use in its biodiversity conservation projects through technical assistance. We interviewed 34 technical assistance staff supporting biodiversity programming at USAID to explore how technical assistance is used to support evidence use and the extent to which technical assistance can fulfill the functions of "evidence bridges"—intermediaries who help practitioners access and use bodies of evidence for decision‐making. We found that the current technical assistance model supporting evidence employs varied strategies to support evidence use, some of which are more closely aligned with the functions of evidence bridges than others. We conclude that the current technical assistance model could strengthen support for evidence use through engagement with evidence bridges to promote uptake of synthesized evidence. We suggest that technical assistance and evidence bridges are needed to facilitate high‐quality evidence use at the scale necessary to achieve conservation impact, and more collaborative spaces at the boundary between research and practice are needed. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Effects of Voice Pitch on Social Perceptions Vary With Relational Mobility and Homicide Rate

Author

Aung, Toe, primary, Hill, Alexander K., additional, Hlay, Jessica K., additional, Hess, Catherine, additional, Hess, Michael, additional, Johnson, Janie, additional, Doll, Leslie, additional, Carlson, Sara M., additional, Magdinec, Caroline, additional, G-Santoyo, Isaac, additional, Walker, Robert S., additional, Bailey, Drew, additional, Arnocky, Steven, additional, Kamble, Shanmukh, additional, Vardy, Tom, additional, Kyritsis, Thanos, additional, Atkinson, Quentin, additional, Jones, Benedict, additional, Burns, Jessica, additional, Koster, Jeremy, additional, Palomo-Vélez, Gonzalo, additional, Tybur, Joshua M., additional, Muñoz-Reyes, José, additional, Choy, Bryan K. C., additional, Li, Norman P., additional, Klar, Verena, additional, Batres, Carlota, additional, Bascheck, Patricia, additional, Schild, Christoph, additional, Penke, Lars, additional, Pazhoohi, Farid, additional, Kemirembe, Karen, additional, Valentova, Jaroslava Varella, additional, Varella, Marco Antonio Correa, additional, da Silva, Caio Santos Alves, additional, Borras-Guevara, Martha, additional, Hodges-Simeon, Carolyn, additional, Ernst, Moritz, additional, Garr, Collin, additional, Chen, Bin-Bin, additional, and Puts, David, additional

Published
2024
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9. OptoPI3K, genetic code expansion, and click chemistry reveal mechanisms underlying reciprocal regulation between TRPV1 and PI3K

Author

Koh, Duk-Su, primary, Stratiievska, Anastasiia, primary, Jana, Subhashis, additional, Otto, Shauna C., additional, Swanson, Teresa M., additional, Nhim, Anthony, additional, Carlson, Sara, additional, Raza, Marium, additional, Naves, Lígia Araujo, additional, Senning, Eric N., additional, Mehl, Ryan, additional, and Gordon, Sharona E., additional

Published
2023
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10. Incorporating natural ecosystems into global health and food security programmes

Author

Jacob, Anila, Johnson, Kiersten, Cohen, Robert, and Carlson, Sara E.

Subjects
Deforestation -- Safety and security measures, Global temperature changes -- Safety and security measures, World health -- Safety and security measures, Biological pest control -- Safety and security measures, Ecosystems -- Safety and security measures, Health
Abstract

Natural ecosystems such as forests, coral reefs, mangroves and grasslands provide essential goods and services that support human health and food security. Examples of these ecosystem services include crop pollination [...]

Published
2020
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11. An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels

Author

Montasser, May E., O’Hare, Elizabeth A., Wang, Xiaochun, Howard, Alicia D., McFarland, Rebecca, Perry, James A., Ryan, Kathleen A., Rice, Kenneth, Jaquish, Cashell E., Shuldiner, Alan R., Miller, Michael, Mitchell, Braxton D., Zaghloul, Norann A., Chang, Yen-Pei C., Abe, Namiko, Abecasis, Goncalo, Albert, Christine, Allred, Nicholette P., Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Debora, Arking, Dan, Arnett, Donna K, Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Barnard, John, Barnes, Kathleen, Graham Barr, R., Barron-Casella, Emily, Beaty, Terri, Becker, Diane, Becker, Lewis, Beer, Rebecca, Begum, Ferdouse, Beitelshees, Amber, Benjamin, Emelia, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Boerwinkle, Eric, Borecki, Ingrid, Bowler, Russel, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Bunting, Karen, Burchard, Esteban, Cardwell, Jonathan, Carlson, Sara, Carty, Cara, Casaburi, Richard, Casella, James, Chaffin, Mark, Chang, Christy, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Ida Chen, Yii-Der, Cho, Michael, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, Das, Sayantan, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Do, Ron, Duan, Qing, Duggirala, Ravi, Durda, Peter, Dutcher, Susan, Eaton, Charles, Ekunwe, Lynette, Ellinor, Patrick, Emery, Leslie, Farber, Charles, Farnam, Leanna, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Fu, Mao, Fullerton, Malia, Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Yan, Gass, Margery, Gelb, Bruce, Geng, Xiaoqi (Priscilla), Germer, Soren, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Charles Gu, C., Guan, Yue, Guo, Xiuqing, Haessler, Jeff, Hall, Michael, Harris, Daniel, Hawley, Nicola, He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hokanson, John, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Huston, Haley, Hwu, Chii Min, Irvin, Marguerite, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Jhun, Min A, Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kathiresan, Sekar, Kaufman, Laura, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Kramer, Holly, Krauter, Stephanie, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Seunggeun, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Dan, Lewis, Joshua, Li, Yun, Lin, Honghuang, Lin, Keng Han, Liu, Simin, Liu, Yongmei, Loos, Ruth, Lunetta, Kathryn, Luo, James, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manson, JoAnn, Margolin, Lauren, Martin, Lisa, Mathai, Susan, Mathias, Rasika, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, Mei, Hao, Meyers, Deborah, Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L, Mitchell, Braxton, Musani, Solomon, Mwasongwe, Stanford, Mychaleckyj, Josyf C, Nadkarni, Girish, Naik, Rakhi Johns, Natarajan, Pradeep, Nekhai, Sergei, Nickerson, Deborah, North, Kari, O’Connell, Jeff, O’Connor, Tim, Heather, Ochs-Balcom, Pankow, James, Papanicolaou, George, Parker, Margaret, Parsa, Afshin, Pattison, Jessica Tangarone, Penchev, Sara, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Larry, Phillips, Sam, Pollin, Toni, Post, Wendy, Becker, Julia Powers, Boorgula, Meher Preethi, Preuss, Michael, Prokopenko, Dmitry, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Ramachandran, Vasan, Rao, D.C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Regan, Elizabeth, Reiner, Alex, Rice, Ken, Rich, Stephen, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sakornsakolpat, Phuwanat, Salimi, Shabnam, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay, Scheller, Christopher, Schmidt, Ellen, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Sheehan, Vivien, Shetty, Amol, Shetty, Aniket, Hui-Heng Sheu, Wayne, Benjamin Shoemaker, M., Silver, Brian, Silverman, Edwin, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne, Streeten, Elizabeth, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Sztalryd, Carole, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Tinker, Lesley, Tirschwell, David, Tiwari, Hemant, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wan, Emily, Fei Wang, Fei, Watson, Karol, Weeks, Daniel E., Weir, Bruce, Weiss, Scott, Weng, Lu-Chen, Willer, Cristen, Williams, Kayleen, Keoki Williams, L., Wilson, Carla, Wilson, James, Wong, Quenna, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yang, Rongze, Zaghloul, Norann, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zheng, Xiuwen, Zhi, Degui, Zhou, Xiang, Zody, Michael, and Zoellner, Sebastian

Published
2018
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14. The Allen Cell Collection: Fluorescent Protein‐tagged Human Induced Pluripotent Stem Cell (hiPSC) Lines to Investigate Cell and Nuclear Organization in Differentiation, Disease, and Regeneration

Author

Fuqua, Margaret, primary, Arakaki, Joy, additional, Sul, Youngmee, additional, Haupt, Amanda, additional, Roberts, Brock, additional, Dinh, Stephanie, additional, Gerbin, Kaytlyn, additional, Nelson, Angelique, additional, Smith, Jacqueline, additional, Zaunbrecher, Rebecca, additional, Grancharova, Tanya, additional, Carlson, Sara, additional, Borenzstejn, Antoine, additional, Frick, Christopher, additional, Gehring, Jamie, additional, Hookway, Caroline, additional, Ludmann, Susan, additional, Mueller, Irina, additional, Thottam, John Paul, additional, Toloudis, Daniel, additional, Johnson, Graham, additional, Rafelski, Susanne, additional, and Gunawardane, Ru, additional

Published
2021
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15. Using Work Domain Analysis to Model the Impact of Digitalization in Intensive Care

Author

Carlson, Sara

Subjects
Teknik och teknologier, Engineering and Technology
Abstract

The thesis’ objective was to investigate the impact of digitalization in intensive care. A case study was performed on an ICU (intensive care unit) that recently adopted a CIS(clinical information system) that replaced a paper charting system. This meant that the nature of nurses’ work changed since some of their administrative tasks became obsolete due to automation, while other tasks were now performed on a computerscreen instead of written by hand on paper sheets. Direct observations and semi-structured interviews took place at the ICU to understand how nurses had perceived these changes. A thematic analysis was used to make sense of the collected data. Moreover, a work domain analysis (WDA) was performed to investigate the CIS‘s impact on the work system since intensive care classifies as a socio-technical system. Findings showed that the system adoption had been successful and considered as an improvement to the paper charts. The CIS had not had any major negative impact on the way nurses worked. On the contrary, they felt an increase in trust that the product of their work (mainly patient data administration) was more correct. Theresult of the WDA showed that it was possible to see how the CIS had contributed to higher functions and goals in the work system. Moreover, the CIS had increased support for nurses’ work in terms of information presentation, continuity of care,standardization, decision support and care documentation. From a scientific point ofview, this way of using a WDA as an evaluation tool is quite unique and can be seen as an extra contribution of the thesis work.

Published
2018

17. Diversification of CYCLOIDEA-like genes in Dipsacaceae (Dipsacales): implications for the evolution of capitulum inflorescences

Author

Carlson Sara E, Howarth Dianella G, and Donoghue Michael J

Subjects
Evolution, QH359-425
Abstract

Abstract Background CYCLOIDEA (CYC)-like genes have been implicated in the development of capitulum inflorescences (i.e. flowering heads) in Asteraceae, where many small flowers (florets) are packed tightly into an inflorescence that resembles a single flower. Several rounds of duplication of CYC-like genes have occurred in Asteraceae, and this is hypothesized to be correlated with the evolution of the capitulum, which in turn has been implicated in the evolutionary success of the group. We investigated the evolution of CYC-like genes in Dipsacaceae (Dipsacales), a plant clade in which capitulum inflorescences originated independently of Asteraceae. Two main inflorescence types are present in Dipsacaceae: (1) radiate species contain two kinds of floret within the flowering head (disk and ray), and (2) discoid species contain only disk florets. To test whether a dynamic pattern of gene duplication, similar to that documented in Asteraceae, is present in Dipsacaceae, and whether these patterns are correlated with different inflorescence types, we inferred a CYC-like gene phylogeny for Dipsacaceae based on representative species from the major lineages. Results We recovered within Dipsacaceae the three major forms of CYC-like genes that have been found in most core eudicots, and identified several additional duplications within each of these clades. We found that the number of CYC-like genes in Dipsacaceae is similar to that reported for members of Asteraceae and that the same gene lineages (CYC1-like and CYC2B-like genes) have duplicated in a similar fashion independently in both groups. The number of CYC-like genes recovered for radiate versus discoid species differed, with discoid species having fewer copies of CYC1-like and CYC2B-like genes. Conclusions CYC-like genes have undergone extensive duplication in Dipsacaceae, with radiate species having more copies than discoid species, suggesting a potential role for these genes in the evolution of disk and ray florets. The similarity in CYC-like gene diversification seen in Dipsacaceae and some members of the Asteraceae sets the stage to investigate whether the convergent evolution of capitulum inflorescences in both groups may have been underlain by convergent evolution in the same gene family.

Published
2011
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19. User participation during development of public e-services : A study of three Swedish public organizations

Author

Carlson, Sara and Vallé, Troy

Subjects
e-förvaltning, användarmedverkan, Systemvetenskap, informationssystem och informatik, offentliga e-tjänster, Information Systems
Abstract

Informationsteknik har blivit en betydande del av samhället, vilket bland annat tar sig i uttryck politiskt via bland annat statsförvaltningen. För att underlätta medborgarnas vardag satsar regeringen på att utveckla den så kallade e-förvaltningen och i denna ingår utvecklingen av offentliga elektroniska tjänster. Målet med e-förvaltningen är att både kunna bidra till att effektivisera offentlig verksamhet, men också förenkla medborgares kontakt med den offentliga sektorn. Det finns exempel som visar hur bristen på hänsyn till medborgares behov och önskemål leder till tjänster som inte utnyttjas, något som visar att det är viktigt att offentliga organisationer tillskansar sig kunskap om användare och deras önskemål. Användarmedverkan ses av forskare som ett användbart verktyg i syfte att skapa relevanta och tillgängliga e-tjänster, men i praktiken förefaller användares behov vara något som bortprioriteras vid e-tjänsteutvecklingen inom offentlig sektor. Syftet med denna uppsats var att närmre undersöka tre offentliga organisationer för att få större kunskap om deras inställning till användarmedverkan, deras praktiska tillvägagångssätt vid tillämpandet av användarmedverkan och bidraget det medför på utvecklingen av offentliga e-tjänster, samt undersöka möjligheter för förbättring av denna tillämpning. Detta gjordes genom att vi utförde en kvalitativ studie hos Skatteverket, Centrala studiestödsnämnden och Norrköpings kommun. Resultatet visade att inställningen till användarmedverkan var positiv och att de tre organisationerna hade uppfattningen att det kunde leda till bättre e-tjänster. Däremot skiljde sig syftet med e-tjänsteutvecklingen sig åt och det sträckte sig mellan en syn på e-tjänsteutveckling med fokus på nytta för medborgare, och e-tjänsteutveckling med fokus på verksamhetsnytta. Även arbetssätten tenderade att skilja sig åt och den organisation som hade starkast medborgarperspektiv arbetade även mest konsekvent och mest etablerat med användarmedverkan, medan organisationen som hade starkast verksamhetsperspektiv inte alls involverade slutanvändare under utvecklingen. Vi kunde dra slutsatsen att användarmedverkan hade positiva effekter på utvecklingsprojektens resultat eftersom det fångade problem tidigt i utvecklingen och e-tjänsterna blev bättre anpassade för medborgarnas behov. Av intervjuerna framgick de att organisationerna i vissa fall saknade kunskap om användarmedverkan och skulle behöva tydligare styrning, och att det är viktigt att arbeta för att inkludera en bredare användargrupp istället för att tvinga personer med låg datorvana att välja andra kanaler. Kunskapen om användarmedverkan skulle öka genom att skapa större samverkan inom offentlig sektor för att kunna dela med sig och dra nytta av andra verksamheters metoder och erfarenheter vid tillämpning av användarmedverkan. Vi anser att en plattform för en sådan samverkan skulle kunna bidra mycket till de organisationer som aktivt vill arbeta med initiativ till förbättrad e-tjänsteutveckling.

Published
2015

21. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Author

Green, Robert C., primary, Goddard, Katrina A.B., additional, Jarvik, Gail P., additional, Amendola, Laura M., additional, Appelbaum, Paul S., additional, Berg, Jonathan S., additional, Bernhardt, Barbara A., additional, Biesecker, Leslie G., additional, Biswas, Sawona, additional, Blout, Carrie L., additional, Bowling, Kevin M., additional, Brothers, Kyle B., additional, Burke, Wylie, additional, Caga-anan, Charlisse F., additional, Chinnaiyan, Arul M., additional, Chung, Wendy K., additional, Clayton, Ellen W., additional, Cooper, Gregory M., additional, East, Kelly, additional, Evans, James P., additional, Fullerton, Stephanie M., additional, Garraway, Levi A., additional, Garrett, Jeremy R., additional, Gray, Stacy W., additional, Henderson, Gail E., additional, Hindorff, Lucia A., additional, Holm, Ingrid A., additional, Lewis, Michelle Huckaby, additional, Hutter, Carolyn M., additional, Janne, Pasi A., additional, Joffe, Steven, additional, Kaufman, David, additional, Knoppers, Bartha M., additional, Koenig, Barbara A., additional, Krantz, Ian D., additional, Manolio, Teri A., additional, McCullough, Laurence, additional, McEwen, Jean, additional, McGuire, Amy, additional, Muzny, Donna, additional, Myers, Richard M., additional, Nickerson, Deborah A., additional, Ou, Jeffrey, additional, Parsons, Donald W., additional, Petersen, Gloria M., additional, Plon, Sharon E., additional, Rehm, Heidi L., additional, Roberts, J. Scott, additional, Robinson, Dan, additional, Salama, Joseph S., additional, Scollon, Sarah, additional, Sharp, Richard R., additional, Shirts, Brian, additional, Spinner, Nancy B., additional, Tabor, Holly K., additional, Tarczy-Hornoch, Peter, additional, Veenstra, David L., additional, Wagle, Nikhil, additional, Weck, Karen, additional, Wilfond, Benjamin S., additional, Wilhelmsen, Kirk, additional, Wolf, Susan M., additional, Wynn, Julia, additional, Yu, Joon-Ho, additional, Amaral, Michelle, additional, Amendola, Laura, additional, Aronson, Samuel J., additional, Arora, Shubhangi, additional, Azzariti, Danielle R., additional, Barsh, Greg S., additional, Bebin, E.M., additional, Biesecker, Barbara B., additional, Brown, Brian L., additional, Burt, Amber A., additional, Byers, Peter H., additional, Calikoglu, Muge G., additional, Carlson, Sara J., additional, Chahin, Nizar, additional, Christensen, Kurt D., additional, Chung, Wendy, additional, Cirino, Allison L., additional, Clayton, Ellen, additional, Conlin, Laura K., additional, Cooper, Greg M., additional, Crosslin, David R., additional, Davis, James V., additional, Davis, Kelly, additional, Deardorff, Matthew A., additional, Devkota, Batsal, additional, De Vries, Raymond, additional, Diamond, Pamela, additional, Dorschner, Michael O., additional, Dugan, Noreen P., additional, Dukhovny, Dmitry, additional, Dulik, Matthew C., additional, East, Kelly M., additional, Rivera-Munoz, Edgar A., additional, Evans, Barbara, additional, Everett, Jessica, additional, Exe, Nicole, additional, Fan, Zheng, additional, Feuerman, Lindsay Z., additional, Filipski, Kelly, additional, Finnila, Candice R., additional, Fishler, Kristen, additional, Ghrundmeier, Bob, additional, Giles, Karen, additional, Gilmore, Marian J., additional, Girnary, Zahra S., additional, Goddard, Katrina, additional, Gonsalves, Steven, additional, Gordon, Adam S., additional, Gornick, Michele C., additional, Grady, William M., additional, Gray, David E., additional, Green, Robert, additional, Greenwood, Robert S., additional, Gutierrez, Amanda M., additional, Han, Paul, additional, Hart, Ragan, additional, Heagerty, Patrick, additional, Hensman, Naomi, additional, Hiatt, Susan M., additional, Himes, Patricia, additional, Hisama, Fuki M., additional, Ho, Carolyn Y., additional, Hoffman-Andrews, Lily B., additional, Hong, Celine, additional, Horike-Pyne, Martha J., additional, Hull, Sara, additional, Jamal, Seema, additional, Jensen, Brian C., additional, Joffe, Steve, additional, Johnston, Jennifer, additional, Karavite, Dean, additional, Kauffman, Tia L., additional, Kaufman, Dave, additional, Kelley, Whitley, additional, Kim, Jerry H., additional, Kirby, Christine, additional, Klein, William, additional, Knoppers, Bartha, additional, Kong, Sek Won, additional, Krantz, Ian, additional, Krier, Joel B., additional, Lamb, Neil E., additional, Lambert, Michele P., additional, Le, Lan Q., additional, Lebo, Matthew S., additional, Lee, Alexander, additional, Lee, Kaitlyn B., additional, Lennon, Niall, additional, Leo, Michael C., additional, Leppig, Kathleen A., additional, Lewis, Katie, additional, Lewis, Michelle, additional, Lindeman, Neal I., additional, Lockhart, Nicole, additional, Lonigro, Bob, additional, Lose, Edward J., additional, Lupo, Philip J., additional, Rodriguez, Laura Lyman, additional, Lynch, Frances, additional, Machini, Kalotina, additional, MacRae, Calum, additional, Marchuk, Daniel S., additional, Martinez, Josue N., additional, Masino, Aaron, additional, McLaughlin, Heather M., additional, McMullen, Carmit, additional, Mieczkowski, Piotr A., additional, Miller, Jeff, additional, Miller, Victoria A., additional, Mody, Rajen, additional, Mooney, Sean D., additional, Moore, Elizabeth G., additional, Morris, Elissa, additional, Murray, Michael, additional, Ng, David, additional, Oliver, Nelly M., additional, Parsons, Will, additional, Patrick, Donald L., additional, Pennington, Jeffrey, additional, Perry, Denise L., additional, Petersen, Gloria, additional, Plon, Sharon, additional, Porter, Katie, additional, Powell, Bradford C., additional, Punj, Sumit, additional, Breitkopf, Carmen Radecki, additional, Raesz-Martinez, Robin A., additional, Raskind, Wendy H., additional, Reigar, Dean A., additional, Reiss, Jacob A., additional, Rich, Carla A., additional, Richards, Carolyn Sue, additional, Rini, Christine, additional, Roberts, Scott, additional, Robertson, Peggy D., additional, Robinson, Jill O., additional, Robinson, Marguerite E., additional, Roche, Myra I., additional, Romasko, Edward J., additional, Rosenthal, Elisabeth A., additional, Salama, Joseph, additional, Scarano, Maria I., additional, Schneider, Jennifer, additional, Seidman, Christine E., additional, Seifert, Bryce A., additional, Shirts, Brian H., additional, Sholl, Lynette M., additional, Siddiqui, Javed, additional, Silverman, Elian, additional, Simmons, Shirley, additional, Simons, Janae V., additional, Skinner, Debra, additional, Stoffel, Elena, additional, Strande, Natasha T., additional, Sunyaev, Shamil, additional, Sybert, Virginia P., additional, Taber, Jennifer, additional, Taylor, Deanne M., additional, Tilley, Christian R., additional, Tomlinson, Ashley, additional, Trinidad, Susan, additional, Tsai, Ellen, additional, Ubel, Peter, additional, Van Allen, Eliezer M., additional, Vassy, Jason L., additional, Vats, Pankaj, additional, Vetter, Victoria L., additional, Vries, Raymond D., additional, Walser, Sarah A., additional, Walsh, Rebecca C., additional, Werner-Lin, Allison, additional, Whittle, Jana, additional, Wilfond, Ben, additional, Wilhelmsen, Kirk C., additional, Yang, Yaping, additional, Young, Carol, additional, and Zikmund-Fisher, Brian J., additional

Published
2016
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22. Användarmedverkan vid utveckling av offentliga e-tjänster : En studie av tre svenska offentliga organisationer

Author

Carlson, Sara, Vallé, Troy, Carlson, Sara, and Vallé, Troy

Abstract

Informationsteknik har blivit en betydande del av samhället, vilket bland annat tar sig i uttryck politiskt via bland annat statsförvaltningen. För att underlätta medborgarnas vardag satsar regeringen på att utveckla den så kallade e-förvaltningen och i denna ingår utvecklingen av offentliga elektroniska tjänster. Målet med e-förvaltningen är att både kunna bidra till att effektivisera offentlig verksamhet, men också förenkla medborgares kontakt med den offentliga sektorn. Det finns exempel som visar hur bristen på hänsyn till medborgares behov och önskemål leder till tjänster som inte utnyttjas, något som visar att det är viktigt att offentliga organisationer tillskansar sig kunskap om användare och deras önskemål. Användarmedverkan ses av forskare som ett användbart verktyg i syfte att skapa relevanta och tillgängliga e-tjänster, men i praktiken förefaller användares behov vara något som bortprioriteras vid e-tjänsteutvecklingen inom offentlig sektor. Syftet med denna uppsats var att närmre undersöka tre offentliga organisationer för att få större kunskap om deras inställning till användarmedverkan, deras praktiska tillvägagångssätt vid tillämpandet av användarmedverkan och bidraget det medför på utvecklingen av offentliga e-tjänster, samt undersöka möjligheter för förbättring av denna tillämpning. Detta gjordes genom att vi utförde en kvalitativ studie hos Skatteverket, Centrala studiestödsnämnden och Norrköpings kommun. Resultatet visade att inställningen till användarmedverkan var positiv och att de tre organisationerna hade uppfattningen att det kunde leda till bättre e-tjänster. Däremot skiljde sig syftet med e-tjänsteutvecklingen sig åt och det sträckte sig mellan en syn på e-tjänsteutveckling med fokus på nytta för medborgare, och e-tjänsteutveckling med fokus på verksamhetsnytta. Även arbetssätten tenderade att skilja sig åt och den organisation som hade starkast medborgarperspektiv arbetade även mest konsekvent och mest etablerat med användarmedverkan, me

Published
2015

23. An APOOPseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels

Author

Montasser, May E., O’Hare, Elizabeth A., Wang, Xiaochun, Howard, Alicia D., McFarland, Rebecca, Perry, James A., Ryan, Kathleen A., Rice, Kenneth, Jaquish, Cashell E., Shuldiner, Alan R., Miller, Michael, Mitchell, Braxton D., Zaghloul, Norann A., Chang, Yen-Pei C., Abe, Namiko, Abecasis, Goncalo, Albert, Christine, Allred, Nicholette P., Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Debora, Arking, Dan, Arnett, Donna K, Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Barnard, John, Barnes, Kathleen, Graham Barr, R., Barron-Casella, Emily, Beaty, Terri, Becker, Diane, Becker, Lewis, Beer, Rebecca, Begum, Ferdouse, Beitelshees, Amber, Benjamin, Emelia, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Boerwinkle, Eric, Borecki, Ingrid, Bowler, Russel, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Bunting, Karen, Burchard, Esteban, Cardwell, Jonathan, Carlson, Sara, Carty, Cara, Casaburi, Richard, Casella, James, Chaffin, Mark, Chang, Christy, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Ida Chen, Yii-Der, Cho, Michael, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, Das, Sayantan, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Do, Ron, Duan, Qing, Duggirala, Ravi, Durda, Peter, Dutcher, Susan, Eaton, Charles, Ekunwe, Lynette, Ellinor, Patrick, Emery, Leslie, Farber, Charles, Farnam, Leanna, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Fu, Mao, Fullerton, Malia, Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Yan, Gass, Margery, Gelb, Bruce, Geng, Xiaoqi (Priscilla), Germer, Soren, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Charles Gu, C., Guan, Yue, Guo, Xiuqing, Haessler, Jeff, Hall, Michael, Harris, Daniel, Hawley, Nicola, He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hokanson, John, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Huston, Haley, Hwu, Chii Min, Irvin, Marguerite, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Jhun, Min A, Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kathiresan, Sekar, Kaufman, Laura, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Kramer, Holly, Krauter, Stephanie, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Seunggeun, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Dan, Lewis, Joshua, Li, Yun, Lin, Honghuang, Lin, Keng Han, Liu, Simin, Liu, Yongmei, Loos, Ruth, Lunetta, Kathryn, Luo, James, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manson, JoAnn, Margolin, Lauren, Martin, Lisa, Mathai, Susan, Mathias, Rasika, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, Mei, Hao, Meyers, Deborah, Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L, Mitchell, Braxton, Musani, Solomon, Mwasongwe, Stanford, Mychaleckyj, Josyf C, Nadkarni, Girish, Naik, Rakhi Johns, Natarajan, Pradeep, Nekhai, Sergei, Nickerson, Deborah, North, Kari, O’Connell, Jeff, O’Connor, Tim, Heather, Ochs-Balcom, Pankow, James, Papanicolaou, George, Parker, Margaret, Parsa, Afshin, Pattison, Jessica Tangarone, Penchev, Sara, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Larry, Phillips, Sam, Pollin, Toni, Post, Wendy, Becker, Julia Powers, Boorgula, Meher Preethi, Preuss, Michael, Prokopenko, Dmitry, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Ramachandran, Vasan, Rao, D.C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Regan, Elizabeth, Reiner, Alex, Rice, Ken, Rich, Stephen, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sakornsakolpat, Phuwanat, Salimi, Shabnam, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay, Scheller, Christopher, Schmidt, Ellen, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Sheehan, Vivien, Shetty, Amol, Shetty, Aniket, Hui-Heng Sheu, Wayne, Benjamin Shoemaker, M., Silver, Brian, Silverman, Edwin, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne, Streeten, Elizabeth, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Sztalryd, Carole, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Tinker, Lesley, Tirschwell, David, Tiwari, Hemant, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wan, Emily, Fei Wang, Fei, Watson, Karol, Weeks, Daniel E., Weir, Bruce, Weiss, Scott, Weng, Lu-Chen, Willer, Cristen, Williams, Kayleen, Keoki Williams, L., Wilson, Carla, Wilson, James, Wong, Quenna, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yang, Rongze, Zaghloul, Norann, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zheng, Xiuwen, Zhi, Degui, Zhou, Xiang, Zody, Michael, and Zoellner, Sebastian

Abstract

Supplemental Digital Content is available in the text.

Published
2018
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33. Bridging the research‐implementation gap requires engagement from practitioners.

Author

Dubois, Natalie S., Gomez, Andres, Carlson, Sara, and Russell, Diane

Abstract

A widely recognized challenge in natural resource management and conservation is the gap between the knowledge generated by researchers and the information being used to inform policy and practice. This research‐implementation gap can limit the effectiveness of conservation practice when it results in delayed adoption of approaches that produce better outcomes or a failure to discontinue the use of ineffective practices. To date, much of the discussion about bridging the research‐implementation gap has focused on changes to the supply side, that is, the flow of information from scientists to practitioners. However, changes to the practice of conservation, the demand side, are an important, and often overlooked, component of efforts to increase conservation gains in the face of unprecedented rates of extinction. We use a decision‐theory perspective to explore how program managers and implementers can use existing tools from evidence‐based conservation and adaptive management to more efficiently allocate investments to the use and generation of evidence. Use of these frameworks to achieve broad‐scale change in conservation practice will require building additional capacities into conservation programs across scales. We recommend five actions that conservation practitioners and their institutions can take to bridge the research‐implementation gap in conservation. [ABSTRACT FROM AUTHOR]

Published
2020
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34. Calcium mediates expression of stress‐response genes in prostaglandin A2‐induced growth arrest

Author

Choi, Augustine M. K., Tucker, Robert W., Carlson, Sara G., Wiegand, Gordon, and Holbrooke, Nikki J.

Abstract

We have explored the mechanisms involved in the induction of five stress‐response genes (heme oxygenase [HO], c‐fos, Egr‐1, gadd153, and HSP70) in human diploid fibroblasts growth‐arrested by treatment with the antiproliferative prostaglandin A2(PGA2). The kinetics of c‐fosand Egr‐1 induction were found to be rapid with maximum expression occurring within 60 min of treatment, whereas maximum expression of HO, gadd153, and HSP70occurred between 4 and 8 h of treatment. Nuclear run‐on assays and measurements of mRNA clearance in the presence of actinomycin D demonstrated that increases in both the rates of gene transcription and/or mRNA stability contribute to the genetic response to PGA2. Although the mechanisms responsible for increasing the mRNA levels differ for the individual genes, additional experiments provided evidence that alterations in intracellular calcium ([Ca2+]i) levels were important in initiating the genetic response to PGA2. PGA2treatment resulted in a rapid increase in [Ca2+]iwith the dose‐response relationship for Ca2+mobilization consistent with that seen for the induction of all five genes. [Ca2+]ichelators that attenuate Ca2+mobilization by PGA2also blocked the mRNA induction by PGA2treatment. Density‐inhibited confluent cells were less responsive than proliferating subconfluent cells with respect to Ca2+mobilization after PGA2treatment. This was correlated with a lower level of gene induction. These studies support the hypothesis that increased Ca2+mobilization is an early and central event in the signal transduction pathway (or pathways) mediating the activation of genes in response to PGA2treatment.—Choi, A. M. K., Tucker, R. W., Carlson, S. G., Wiegand, G., Holbrook, N. J. Calcium mediates expression of stress‐response genes in prostaglandin A2‐induced growth arrest. FASEB J.8: 1048‐1054; 1994.

Published
1994
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35. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Author

Wilhelmsen, Kirk, Plon, Sharon E., Deardorff, Matthew A., Conlin, Laura K., Appelbaum, Paul S., Berg, Jonathan S., Davis, James V., Ho, Carolyn Y., Vetter, Victoria L., Gornick, Michele C., Biesecker, Leslie G., Jarvik, Gail P., Raskind, Wendy H., Yang, Yaping, Blout, Carrie L., Manolio, Teri A., Goddard, Katrina A.B., Punj, Sumit, Masino, Aaron, Cooper, Greg M., Oliver, Nelly M., Machini, Kalotina, Robinson, Dan, Burt, Amber A., Vassy, Jason L., Roberts, J. Scott, Amaral, Michelle, Ghrundmeier, Bob, Janne, Pasi A., Wilhelmsen, Kirk C., Rehm, Heidi L., Perry, Denise L., Fullerton, Stephanie M., Tsai, Ellen, Tarczy-Hornoch, Peter, Gray, David E., Joffe, Steven, Evans, Barbara, McEwen, Jean, Devkota, Batsal, Scarano, Maria I., Arora, Shubhangi, Lewis, Katie, Lebo, Matthew S., Rivera-Munoz, Edgar A., Richards, Carolyn Sue, Johnston, Jennifer, Lynch, Frances, Werner-Lin, Allison, Veenstra, David L., Patrick, Donald L., Kelley, Whitley, Koenig, Barbara A., Kaufman, Dave, Lambert, Michele P., Mody, Rajen, Dulik, Matthew C., Karavite, Dean, Porter, Katie, Han, Paul, Clayton, Ellen W., Grady, William M., Sharp, Richard R., Rini, Christine, Le, Lan Q., Vats, Pankaj, Filipski, Kelly, Finnila, Candice R., Young, Carol, Skinner, Debra, Martinez, Josue N., Kirby, Christine, Feuerman, Lindsay Z., Mooney, Sean D., Caga-Anan, Charlisse F., Evans, James P., Powell, Bradford C., Taber, Jennifer, Brown, Brian L., Murray, Michael, Bernhardt, Barbara A., Fishler, Kristen, McMullen, Carmit, East, Kelly, Amendola, Laura M., Wolf, Susan M., Stoffel, Elena, Azzariti, Danielle R., Greenwood, Robert S., Garraway, Levi A., Knoppers, Bartha M., Reigar, Dean A., Green, Robert C., Robinson, Marguerite E., Kaufman, David, Parsons, Will, Hong, Celine, Scollon, Sarah, Marchuk, Daniel S., Chung, Wendy K., Sholl, Lynette M., Yu, Joon-Ho, Girnary, Zahra S., Lamb, Neil E., Lee, Alexander, Ng, David, Davis, Kelly, Bebin, Gordon, Adam S., Dorschner, Michael O., Hutter, Carolyn M., Christensen, Kurt D., Henderson, Gail E., Trinidad, Susan, Rich, Carla A., Diamond, Pamela, Lee, Kaitlyn B., Gonsalves, Steven, Hull, Sara, Hisama, Fuki M., Aronson, Samuel J., Kong, Sek Won, Hindorff, Lucia A., Shirts, Brian, Gilmore, Marian J., Carlson, Sara J., Walser, Sarah A., Spinner, Nancy B., Biesecker, Barbara B., Shirts, Brian H., Jamal, Seema, Ou, Jeffrey, Wynn, Julia, Chahin, Nizar, Kauffman, Tia L., Gutierrez, Amanda M., Tabor, Holly K., Siddiqui, Javed, Tomlinson, Ashley, Klein, William, Roberts, Scott, Horike-Pyne, Martha J., Byers, Peter H., Fan, Zheng, Parsons, Donald W., Mieczkowski, Piotr A., Moore, Elizabeth G., Myers, Richard M., Lennon, Niall, Holm, Ingrid A., Miller, Jeff, Silverman, Elian, Kim, Jerry H., Morris, Elissa, Cooper, Gregory M., East, Kelly M., Seifert, Bryce A., Burke, Wylie, Calikoglu, Muge G., Strande, Natasha T., Lupo, Philip J., Lonigro, Bob, Walsh, Rebecca C., Whittle, Jana, Muzny, Donna, Crosslin, David R., Pennington, Jeffrey, Giles, Karen, Cirino, Allison L., Hoffman-Andrews, Lily B., Gray, Stacy W., Chinnaiyan, Arul M., Nickerson, Deborah A., Raesz-Martinez, Robin A., Hart, Ragan, Dugan, Noreen P., Heagerty, Patrick, Macrae, Calum, Leppig, Kathleen A., Roche, Myra I., Rodriguez, Laura Lyman, Van Allen, Eliezer M., Brothers, Kyle B., Himes, Patricia, Breitkopf, Carmen Radecki, De Vries, Raymond, Rosenthal, Elisabeth A., Sybert, Virginia P., Lockhart, Nicole, Exe, Nicole, Krantz, Ian D., Simmons, Shirley, Biswas, Sawona, Simons, Janae V., Lewis, Michelle Huckaby, Romasko, Edward J., Garrett, Jeremy R., Lindeman, Neal I., Sunyaev, Shamil, Krier, Joel B., Seidman, Christine E., Hiatt, Susan M., Bowling, Kevin M., Leo, Michael C., Robinson, Jill O., Salama, Joseph S., Wilfond, Benjamin S., Barsh, Greg S., Reiss, Jacob A., Tilley, Christine R., Zikmund-Fisher, Brian J, McGuire, Amy, Miller, Victoria A., Taylor, Deanne M., Jensen, Brian C., McCullough, Laurence, Dukhovny, Dmitry, Weck, Karen, Everett, Jessica, Robertson, Peggy D., Schneider, Jennifer, Vries, Raymond D., Petersen, Gloria M., Wagle, Nikhil, McLaughlin, Heather M., Lose, Edward J., and Hensman, Naomi

Subjects
3. Good health
Abstract

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

36. Using Cognitive Work Analysis to Model the Impact of Digitalization on Intensive Care Nursing

Author

Carlson, Sara, Löscher, Ida, Lind, Thomas, Fröjd, Camilla, Carlson, Sara, Löscher, Ida, Lind, Thomas, and Fröjd, Camilla

Abstract

The continuous development of health IT fuels a process of ongoing digitalization that affects the work of hospital staff. A Cognitive Work Analysis methodology was used to investigate the impact of digitalization through a Clinical Information System (CIS), an addition to the basic Electronic Medical Record, on one intensive care unit (ICU). Both observations and semi-structured interviews were performed. The replacement of a paper charting system with a digital CIS that meant some of the administrative tasks could be automated and other tasks being performed on a computer screen instead of using paper. The nurses’ work domain was modeled and compared to a study performed prior to the implementation of the CIS. The study demonstrates the potential utility of the Cognitive Work Analysis approach (when applied both pre and post-implementation) to evaluate the impact of a CIS on ICU nurses., The effects of digitalization on the work environment of nurses (DISA)

38. Genetic code expansion, click chemistry, and light-activated PI3K reveal details of membrane protein trafficking downstream of receptor tyrosine kinases.

Author

Koh DS, Stratiievska A, Jana S, Otto SC, Swanson TM, Nhim A, Carlson S, Raza M, Naves LA, Senning EN, Mehl RA, and Gordon SE

Subjects
Humans, Membrane Proteins metabolism, Membrane Proteins genetics, TRPV Cation Channels metabolism, TRPV Cation Channels genetics, Signal Transduction, Cell Membrane metabolism, Optogenetics, Genetic Code, Light, Animals, HEK293 Cells, Click Chemistry, Phosphatidylinositol 3-Kinases metabolism, Phosphatidylinositol 3-Kinases genetics, Receptor Protein-Tyrosine Kinases metabolism, Receptor Protein-Tyrosine Kinases genetics, Protein Transport
Abstract

Ligands such as insulin, epidermal growth factor, platelet-derived growth factor, and nerve growth factor (NGF) initiate signals at the cell membrane by binding to receptor tyrosine kinases (RTKs). Along with G-protein-coupled receptors, RTKs are the main platforms for transducing extracellular signals into intracellular signals. Studying RTK signaling has been a challenge, however, due to the multiple signaling pathways to which RTKs typically are coupled, including MAP/ERK, PLCγ, and Class 1A phosphoinositide 3-kinases (PI3K). The multi-pronged RTK signaling has been a barrier to isolating the effects of any one downstream pathway. Here, we used optogenetic activation of PI3K to decouple its activation from other RTK signaling pathways. In this context, we used genetic code expansion to introduce a click chemistry noncanonical amino acid into the extracellular side of membrane proteins. Applying a cell-impermeant click chemistry fluorophore allowed us to visualize delivery of membrane proteins to the plasma membrane in real time. Using these approaches, we demonstrate that activation of PI3K, without activating other pathways downstream of RTK signaling, is sufficient to traffic the TRPV1 ion channels and insulin receptors to the plasma membrane., Competing Interests: DK, AS, SJ, SO, TS, AN, SC, MR, LN, ES, RM, SG No competing interests declared, (© 2023, Koh, Stratiievska et al.)

Published
2024
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