2,069 results on '"Yamamoto, Shinya"'
Search Results
452. MP62-12 PREDICTIVE ABILITY OF PREBIOPSY MULTIPARAMETRIC MAGNETIC RESONANCE IMAGING FOR NEGATIVE LYMPH NODE METASTASIS OF THE SIDE IN RADICAL PROSTATECTOMY: FEASIBILITY OF UNILATERAL LYMPH NODE DISSECTION
- Author
-
Numao*, Noboru, primary, Ishikawa, Yudai, additional, Yamamoto, Shinya, additional, Fujiwara, Motohiro, additional, Yasuoka, Shotaro, additional, Fujiwara, Ryo, additional, Komai, Yoshinobu, additional, Yuasa, Takeshi, additional, Fukui, Iwao, additional, and Yonese, Junji, additional
- Published
- 2020
- Full Text
- View/download PDF
453. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
- Author
-
Mao, Dongxue, primary, Reuter, Chloe M., additional, Ruzhnikov, Maura R.Z., additional, Beck, Anita E., additional, Farrow, Emily G., additional, Emrick, Lisa T., additional, Rosenfeld, Jill A., additional, Mackenzie, Katherine M., additional, Robak, Laurie, additional, Wheeler, Matthew T., additional, Burrage, Lindsay C., additional, Jain, Mahim, additional, Liu, Pengfei, additional, Calame, Daniel, additional, Küry, Sébastien, additional, Sillesen, Martin, additional, Schmitz-Abe, Klaus, additional, Tonduti, Davide, additional, Spaccini, Luigina, additional, Iascone, Maria, additional, Genetti, Casie A., additional, Koenig, Mary K., additional, Graf, Madeline, additional, Tran, Alyssa, additional, Alejandro, Mercedes, additional, Lee, Brendan H., additional, Thiffault, Isabelle, additional, Agrawal, Pankaj B., additional, Bernstein, Jonathan A., additional, Bellen, Hugo J., additional, Chao, Hsiao-Tuan, additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Batzli, Gabriel F., additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Bejerano, Gill, additional, Bennet, Jimmy, additional, Berg-Rood, Beverly, additional, Bernier, Raphael, additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Burke, Elizabeth A., additional, Butte, Manish J., additional, Byers, Peter, additional, Carey, John, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Chanprasert, Sirisak, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Earl, Dawn, additional, Eckstein, David J., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Gahl, William A., additional, Glass, Ian, additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Goldman, Alica M., additional, Goldstein, David B., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Hahn, Sihoun, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kiley, Dana, additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C. Christopher, additional, LeBlanc, Kimberly, additional, Lee, Hane, additional, Levitt, Roy, additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Markello, Thomas C., additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava-Kozicz, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nath, Avi, additional, Nelson, Stan F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raskind, Wendy, additional, Raja, Archana N., additional, Renteria, Genecee, additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rowley, Robb K., additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Scott, C. Ron, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Shakachite, Lisa, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sun, Angela, additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Wener, Mark, additional, Westerfield, Monte, additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, and Zuchner, Stephan, additional
- Published
- 2020
- Full Text
- View/download PDF
454. Breast cancer suspected to originate from familial hereditary tumors: A case report
- Author
-
Yamamoto, Shinya, primary, Chishima, Takashi, additional, Sugae, Sadatoshi, additional, Shibata, Yukako, additional, and Yamada, Akimitsu, additional
- Published
- 2020
- Full Text
- View/download PDF
455. Blood Culture Results Before and After Antimicrobial Administration
- Author
-
Yamamoto, Shinya, primary and Okamoto, Koh, additional
- Published
- 2020
- Full Text
- View/download PDF
456. Expression of Concern About Dr. Nicolas Guéguen’s Article Published in the Letters on Evolutionary Behavioral Science (LEBS)
- Author
-
Yamamoto, Shinya, primary and Ohtsubo, Yohsuke, additional
- Published
- 2020
- Full Text
- View/download PDF
457. Phase II Study of Second-line Chemotherapy With Paclitaxel, Gemcitabine, and Cisplatin for Advanced Urothelial Carcinoma
- Author
-
OGAWA, MASAHIRO, primary, YAMAMOTO, SHINYA, additional, INOUE, TORU, additional, NUMAO, NOBORU, additional, YUASA, TAKESHI, additional, MASUDA, HITOSHI, additional, FUKUI, IWAO, additional, and YONESE, JUNJI, additional
- Published
- 2020
- Full Text
- View/download PDF
458. Pembrolizumab for a patient with metastatic castration‐resistant prostate cancer with microsatellite instability‐high
- Author
-
Fujiwara, Motohiro, primary, Komai, Yoshinobu, additional, Yuasa, Takeshi, additional, Numao, Noboru, additional, Yamamoto, Shinya, additional, Fukui, Iwao, additional, and Yonese, Junji, additional
- Published
- 2020
- Full Text
- View/download PDF
459. Erdheim-Chester Disease
- Author
-
Yamamoto, Shinya, primary, Matsumi, Shimpei, additional, and Teshima, Shinichi, additional
- Published
- 2020
- Full Text
- View/download PDF
460. The Human Microbiome and COVID-19: A Systematic Review
- Author
-
Yamamoto, Shinya, primary, Saito, Makoto, additional, Tamura, Azumi, additional, Prawisuda, Diki, additional, Mizutani, Taketoshi, additional, and Yotsuyanagi, Hiroshi, additional
- Published
- 2020
- Full Text
- View/download PDF
461. A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease
- Author
-
Graves, Hillary K, primary, Jangam, Sharayu, additional, Tan, Kai Li, additional, Pignata, Antonella, additional, Seto, Elaine S, additional, Yamamoto, Shinya, additional, and Wangler, Michael F, additional
- Published
- 2020
- Full Text
- View/download PDF
462. Li-Fraumeni Syndrome Detected during Breast Cancer Diagnosis
- Author
-
SHIBATA, Yukako, primary, YAMADA, Akimitsu, additional, SUGAE, Sadatoshi, additional, HAMANOUE, Haruka, additional, YAMAMOTO, Shinya, additional, UMEDA, Shigeaki, additional, and ENDO, Itaru, additional
- Published
- 2020
- Full Text
- View/download PDF
463. Intraoperative Only versus Extended Duration Use of Antimicrobial Prophylaxis for Infectious Complications in Radical Cystectomy with Intestinal Urinary Diversion
- Author
-
Numao, Noboru, primary, Fujiwara, Ryo, additional, Uehara, Sho, additional, Yasuoka, Shotaro, additional, Fujiwara, Motohiro, additional, Komai, Yoshinobu, additional, Yuasa, Takeshi, additional, Yamamoto, Shinya, additional, Fukui, Iwao, additional, and Yonese, Junji, additional
- Published
- 2020
- Full Text
- View/download PDF
464. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
- Author
-
Johnson, Brett V., primary, Kumar, Raman, additional, Oishi, Sabrina, additional, Alexander, Suzy, additional, Kasherman, Maria, additional, Vega, Michelle Sanchez, additional, Ivancevic, Atma, additional, Gardner, Alison, additional, Domingo, Deepti, additional, Corbett, Mark, additional, Parnell, Euan, additional, Yoon, Sehyoun, additional, Oh, Tracey, additional, Lines, Matthew, additional, Lefroy, Henrietta, additional, Kini, Usha, additional, Van Allen, Margot, additional, Grønborg, Sabine, additional, Mercier, Sandra, additional, Küry, Sébastien, additional, Bézieau, Stéphane, additional, Pasquier, Laurent, additional, Raynaud, Martine, additional, Afenjar, Alexandra, additional, Billette de Villemeur, Thierry, additional, Keren, Boris, additional, Désir, Julie, additional, Van Maldergem, Lionel, additional, Marangoni, Martina, additional, Dikow, Nicola, additional, Koolen, David A., additional, VanHasselt, Peter M., additional, Weiss, Marjan, additional, Zwijnenburg, Petra, additional, Sa, Joaquim, additional, Reis, Claudia Falcao, additional, López-Otín, Carlos, additional, Santiago-Fernández, Olaya, additional, Fernández-Jaén, Alberto, additional, Rauch, Anita, additional, Steindl, Katharina, additional, Joset, Pascal, additional, Goldstein, Amy, additional, Madan-Khetarpal, Suneeta, additional, Infante, Elena, additional, Zackai, Elaine, additional, Mcdougall, Carey, additional, Narayanan, Vinodh, additional, Ramsey, Keri, additional, Mercimek-Andrews, Saadet, additional, Pena, Loren, additional, Shashi, Vandana, additional, Schoch, Kelly, additional, Sullivan, Jennifer A., additional, Pinto e Vairo, Filippo, additional, Pichurin, Pavel N., additional, Ewing, Sarah A., additional, Barnett, Sarah S., additional, Klee, Eric W., additional, Perry, M. Scott, additional, Koenig, Mary Kay, additional, Keegan, Catherine E., additional, Schuette, Jane L., additional, Asher, Stephanie, additional, Perilla-Young, Yezmin, additional, Smith, Laurie D., additional, Rosenfeld, Jill A., additional, Bhoj, Elizabeth, additional, Kaplan, Paige, additional, Li, Dong, additional, Oegema, Renske, additional, van Binsbergen, Ellen, additional, van der Zwaag, Bert, additional, Smeland, Marie Falkenberg, additional, Cutcutache, Ioana, additional, Page, Matthew, additional, Armstrong, Martin, additional, Lin, Angela E., additional, Steeves, Marcie A., additional, Hollander, Nicolette den, additional, Hoffer, Mariëtte J.V., additional, Reijnders, Margot R.F., additional, Demirdas, Serwet, additional, Koboldt, Daniel C., additional, Bartholomew, Dennis, additional, Mosher, Theresa Mihalic, additional, Hickey, Scott E., additional, Shieh, Christine, additional, Sanchez-Lara, Pedro A., additional, Graham, John M., additional, Tezcan, Kamer, additional, Schaefer, G.B., additional, Danylchuk, Noelle R., additional, Asamoah, Alexander, additional, Jackson, Kelly E., additional, Yachelevich, Naomi, additional, Au, Margaret, additional, Pérez-Jurado, Luis A., additional, Kleefstra, Tjitske, additional, Penzes, Peter, additional, Wood, Stephen A., additional, Burne, Thomas, additional, Pierson, Tyler Mark, additional, Piper, Michael, additional, Gécz, Jozef, additional, Jolly, Lachlan A., additional, Acosta, Maria T., additional, Adams, David R., additional, Aday, Aaron, additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Barbouth, Deborah, additional, Batzli, Gabriel F., additional, Beggs, Alan H., additional, Bellen, Hugo J., additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bivona, Stephanie, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Carrasquillo, Olveen, additional, Peter Chang, Ta Chen, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D'Souza, Precilla, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Davidson, Jean M., additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Dries, Annika M., additional, Duncan, Laura, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Enns, Gregory M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Friedman, Noah D., additional, Gahl, William A., additional, Godfrey, Rena A., additional, Goldman, Alica M., additional, Goldstein, David B., additional, Gourdine, Jean-Philippe F., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, High, Frances, additional, Holm, Ingrid A., additional, Hom, Jason, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Markello, Thomas C., additional, Marom, Ronit, additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Merker, Jason D., additional, Metz, Thomas O., additional, Might, Matthew, additional, Morava-Kozicz, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nath, Avi, additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina GS., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Renteri, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rowley, Robb K., additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Scott, Daryl A., additional, Shakachite, Lisa, additional, Sharma, Prashant, additional, Shields, Kathleen, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sweetser, David A., additional, Tamburro, Cecelia P., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Vogel, Tiphanie P., additional, Waggott, Daryl M., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Wegner, Daniel, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Zuchner, Stephan, additional, and Gahl, William, additional
- Published
- 2020
- Full Text
- View/download PDF
465. Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure‐function studies inDrosophila
- Author
-
Yamamoto, Shinya, primary
- Published
- 2020
- Full Text
- View/download PDF
466. Effect of Aging on Microstructure and Martensitic Transformation in Ti-Zr-Ni Shape Memory Alloys
- Author
-
Sandu, Adrian, primary, Tsuchiya, Koichi, additional, Yamamoto, Shinya, additional, Tabuchi, Masayuki, additional, Todaka, Yoshikazu, additional, and Umemoto, Minoru, additional
- Published
- 2007
- Full Text
- View/download PDF
467. Feasibility of antegrade radical prostatectomy for clinically locally advanced prostate cancer: a comparative study with clinically localized disease
- Author
-
Yamamoto, Shinya, Kawakami, Satoru, Yonese, Junji, Fujii, Yasuhisa, Tsukamoto, Tetsuro, Okubo, Yuhei, Kijima, Toshiki, Ishikawa, Yuichi, and Fukui, Iwao
- Published
- 2010
- Full Text
- View/download PDF
468. Effects of textual prompts and feedback on social niceties of adolescents with autism spectrum disorder in a simulated workplace
- Author
-
Yamamoto, Shinya, primary and Isawa, Shinzo, additional
- Published
- 2019
- Full Text
- View/download PDF
469. Maternalalmondex, a neurogenic gene, is required for proper subcellular Notch distribution in earlyDrosophilaembryogenesis
- Author
-
Das, Puspa, primary, Salazar, Jose L., additional, Li‐Kroeger, David, additional, Yamamoto, Shinya, additional, Nakamura, Mitsutoshi, additional, Sasamura, Takeshi, additional, Inaki, Mikiko, additional, Masuda, Wataru, additional, Kitagawa, Motoo, additional, Yamakawa, Tomoko, additional, and Matsuno, Kenji, additional
- Published
- 2019
- Full Text
- View/download PDF
470. Herding mechanisms to maintain the cohesion of a harem group: two interaction phases during herding
- Author
-
Ringhofer, Monamie, primary, Go, Clark Kendrick, additional, Inoue, Sota, additional, S. Mendonça, Renata, additional, Hirata, Satoshi, additional, Kubo, Takatomi, additional, Ikeda, Kazushi, additional, and Yamamoto, Shinya, additional
- Published
- 2019
- Full Text
- View/download PDF
471. Using a script procedure without fading to increase novel behavior in a conversation between children with autism
- Author
-
Yamamoto, Shinya, primary and Isawa, Shinzo, additional
- Published
- 2019
- Full Text
- View/download PDF
472. An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms
- Author
-
Kanca, Oguz, primary, Zirin, Jonathan, additional, Garcia-Marques, Jorge, additional, Knight, Shannon Marie, additional, Yang-Zhou, Donghui, additional, Amador, Gabriel, additional, Chung, Hyunglok, additional, Zuo, Zhongyuan, additional, Ma, Liwen, additional, He, Yuchun, additional, Lin, Wen-Wen, additional, Fang, Ying, additional, Ge, Ming, additional, Yamamoto, Shinya, additional, Schulze, Karen L, additional, Hu, Yanhui, additional, Spradling, Allan C, additional, Mohr, Stephanie E, additional, Perrimon, Norbert, additional, and Bellen, Hugo J, additional
- Published
- 2019
- Full Text
- View/download PDF
473. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy
- Author
-
Bhatia, Aashim, primary, Mobley, Bret C., additional, Cogan, Joy, additional, Koziura, Mary E., additional, Brokamp, Elly, additional, Phillips, John, additional, Newman, John, additional, Moore, Steven A., additional, Hamid, Rizwan, additional, Acosta, Maria T., additional, Adams, David R., additional, Agrawal, Pankaj, additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Alvey, Justin, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Barbouth, Deborah, additional, Batzli, Gabriel F., additional, Bayrak-Toydemir, Pinar, additional, Beggs, Alan H., additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bivona, Stephanie, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D'Souza, Precilla, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Gahl, William A., additional, Godfrey, Rena A., additional, Goldman, Alica M., additional, Goldstein, David B., additional, Gourdine, Jean-Philippe F., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hanchard, Neil A., additional, Hayes, Nichole, additional, High, Frances, additional, Holm, Ingrid A., additional, Hom, Jason, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kiley, Dana, additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Loo, Sandra K., additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Markello, Thomas C., additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Metz, Thomas O., additional, Might, Matthew, additional, Morava-Kozicz, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nath, Avi, additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raja, Archana N., additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rowley, Robb K., additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Shakachite, Lisa, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shields, Kathleen, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Wegner, Daniel, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, and Zuchner, Stephan, additional
- Published
- 2019
- Full Text
- View/download PDF
474. Editorial Comment to predicting the probability significant prostate cancer in Japanese men with serum prostate-specific antigen less than 10 ng/mL: Development of a novel pre-biopsy nomogram
- Author
-
Yamamoto, Shinya
- Published
- 2010
- Full Text
- View/download PDF
475. PERFORMANCE OF FREE PSA BETTER THAN TOTAL PSA FOR ESTIMATION OF PROSTATE VOLUME IN ELDERLY MEN WITHOUT PROSTATE CANCER: 1636
- Author
-
Masuda, Hitoshi, Kawakami, Satoru, Fujii, Yasuhisa, Koga, Fumitaka, Saito, Kazutaka, Numao, Noboru, Kijima, Toshiki, Yoshida, Souichiro, Yamamoto, Shinya, Yonese, Junji, Fukui, Iwao, and Kihara, Kazunori
- Published
- 2010
476. Water quality of shallow groundwater in the southern coast area of Lake Kawaguchi at the northern foot of Mt. Fuji, Yamanashi, Japan
- Author
-
YAMAMOTO, Shinya, NAKAMURA, Takashi, KOISHIKAWA, Hiroshi, and UCHIYAMA, Takashi
- Subjects
地下水 ,古井戸 ,河口湖 ,水質 ,水素・酸素安定同位体 - Abstract
富士山北麓、河口湖南岸の浅層地下水の起源と水質特性を明らかにするために、富士河口湖町内に現存する古井戸の調査を行い、地下水の水素・酸素安定同位体比及び主要溶存化学成分、微量元素の測定を行った。河口湖南岸の浅層地下水の安定同位体比は、河口湖畔に近い OW1 や勝山地区の古井戸(OW5, OW6)で、天水線より下方に乖離する傾向が見られ、蒸発の影響を受けた湖水の寄与が示唆された。一方、船津・小立地区の各井戸(OW2, OW3, OW4)では、安定同位体比がほぼ天水線に沿った分布を示し、これら地下水が主に富士山周辺に降った降水により涵養されていることが示唆された。河口湖南岸の地下水中の塩化物イオン(Cl-)濃度は、河口湖南西部の井戸(OW4, OW5, OW6)で高く、ナトリウムイオン(Na+)、マグネシウムイオン(Mg2+)、カルシウムイオン(Ca2+)とよい正の相関を示すことから、冬季の融雪剤等の影響が考えられた。また、河口湖南部~南西部の一部の井戸(OW3,OW4, OW5)からは、硝酸イオン(NO3-)が比較的高濃度で検出され、人為的影響が示唆された。
- Published
- 2017
477. [Book reviews] ICHISHIMA Noriko: Evaluation and Practical Studies in the Japanese Language Education Dialogue Assessment: A Process of Value Conflict and Sharing
- Author
-
Yamamoto, Shinya
- Published
- 2017
478. Corticofugal projections to trigeminal motoneurons innervating antagonistic jaw muscles in rats as demonstrated by anterograde and retrograde tract tracing
- Author
-
Yoshida, Atsushi, Taki, Ikuro, Chang, Zheng, Iida, Chie, Haque, Tahsinul, Tomita, Akiko, Seki, Shinichiro, Yamamoto, Shinya, Masuda, Yuji, Moritani, Masayuki, and Shigenaga, Yoshio
- Published
- 2009
- Full Text
- View/download PDF
479. Risk Stratification of High-grade Prostate Cancer Treated with Antegrade Radical Prostatectomy with Intended Wide Resection
- Author
-
Yamamoto, Shinya, Kawakami, Satoru, Yonese, Junji, Fujii, Yasuhisa, Tsukamoto, Tetsuro, Ohkubo, Yuhei, Komai, Yoshinobu, Ishikawa, Yuichi, and Fukui, Iwao
- Published
- 2009
480. Radiotherapy to bone metastases from renal cell carcinoma with or without zoledronate
- Author
-
Kijima, Toshiki, Fujii, Yasuhisa, Suyama, Taisuke, Okubo, Yuhei, Yamamoto, Shinya, Masuda, Hitoshi, Yonese, Junji, and Fukui, Iwao
- Published
- 2009
- Full Text
- View/download PDF
481. Successful 2-year-long remission following repeated salvage surgery in a patient with chemotherapy-resistant metastatic nonseminomatous germ cell tumor
- Author
-
Takeshita, Hideki, Yonese, Junji, Fujii, Yasuhisa, Kawakami, Satoru, Komai, Yoshinobu, Ohkubo, Yuhei, Yamamoto, Shinya, Ishikawa, Yuichi, Seto, Yasuyuki, Ohyama, Shigekazu, and Fukui, Iwao
- Published
- 2007
- Full Text
- View/download PDF
482. Incidence and Risk Factors for Inappropriate Use of Non-Culture-Based Fungal Assays: Implication for Diagnostic Stewardship.
- Author
-
Ito, Hiroshi, Okamoto, Koh, Yamamoto, Shinya, Yamashita, Marie, Kanno, Yoshiaki, Jubishi, Daisuke, Ikeda, Mahoko, Harada, Sohei, Okugawa, Shu, and Moriya, Kyoji
- Abstract
Background Non-culture-based fungal assays (NCBFAs) have been used increasingly to help diagnose invasive fungal diseases. However, little is known about inappropriate use of NCBFAs. We aimed to investigate inappropriate use of NCBFAs in a tertiary academic hospital. Methods This retrospective cohort study included patients who underwent testing with beta-D glucan (BDG) between January and March 2018 or with galactomannan antigen (GMA) or cryptococcal antigen (CRAG) between January and June 2018. Testing was deemed appropriate if the clinical presentation was compatible with a fungal infection and there was a predisposing host factor at the time of ordering. We compared patients with appropriate and inappropriate use of NCBFAs using multivariate logistic regression analysis. Results Four hundred seventy patients (BDG, 394; GMA, 138; CRAG, 164) met inclusion criteria and were evaluated. About 80% of NCBFAs were deemed inappropriate. Ordering by transplant medicine physicians, repetitions of the test, the absence of predisposing factors for fungal infections, and the absence of recommendations from infectious diseases consultants were associated with an increased risk of inappropriate NCBFA use. Conclusions We found that a large proportion of NCBFAs were deemed inappropriate. There is an opportunity for diagnostic stewardship to reduce avoidable fungal testing among patients at low risk for fungal infection. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
483. History of malignancy is a predictor of prostate cancer detection: Incorporation into a pre-biopsy nomogram
- Author
-
Kawakami, Satoru, Koga, Fumitaka, Fujii, Yasuhisa, Saito, Kazutaka, Yamamoto, Shinya, Tatokoro, Manabu, Yonese, Junji, Kageyama, Yukio, Fukui, Iwao, and Kihara, Kazunori
- Published
- 2008
484. Combination chemotherapy of ifosfamide, 5-fluorouracil, etoposide and cisplatin as perioperative treatment in lymph node positive bladder carcinoma patients treated by radical cystectomy
- Author
-
Komai, Yoshinobu, Fujii, Yasuhisa, Okubo, Yuhei, Yamamoto, Shinya, Kawakami, Satoru, Yonese, Junji, and Fukui, Iwao
- Published
- 2008
485. Lymphovascular invasion is an independent predictor of prostate-specific antigen failure after radical prostatectomy in patients with pT3aN0 prostate cancer
- Author
-
Yamamoto, Shinya, Kawakami, Satoru, Yonese, Junji, Fujii, Yasuhisa, Ohkubo, Yuhei, Suyama, Taisuke, Komai, Yoshinobu, Kijima, Toshiki, Ishikawa, Yuichi, and Fukui, Iwao
- Published
- 2008
486. Preliminary report of multimodal treatment with ifosfamide, 5-fluorouracil, etoposide and cisplatin (IFEP chemotherapy) against metastatic adenocarcinoma of the urachus
- Author
-
Tatokoro, Manabu, Kawakami, Satoru, Yonese, Junji, Fujii, Yasuhisa, Okubo, Yuhei, Yamamoto, Shinya, Takeshita, Hideki, Komai, Yoshinobu, Ishikawa, Yuichi, and Fukui, Iwao
- Published
- 2008
487. Equivalent and sufficient effects of leuprolide acetate and goserelin acetate to suppress serum testosterone levels in patients with prostate cancer
- Author
-
Fujii, Yasuhisa, Yonese, Junji, Kawakami, Satoru, Yamamoto, Shinya, Okubo, Yuhei, and Fukui, Iwao
- Published
- 2008
488. Possibility of recovery of estrogen sensitivity following high-dose glucocorticoid therapy in a patient with hormone-refractory prostate cancer
- Author
-
Yamamoto, Shinya, Yonese, Jyunji, Kawakami, Satoru, Tsukamoto, Tetsuro, Ohkubo, Yuhei, Tatokoro, Manabu, and Fukui, Iwao
- Published
- 2006
- Full Text
- View/download PDF
489. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
- Author
-
Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, and Malicdan, May Christine V
- Subjects
Adult ,Male ,CG12333 ,WD40 Repeats ,Developmental Disabilities ,Intellectual and Developmental Disabilities (IDD) ,Sequence Homology ,Neurodegenerative ,Nervous System Malformations ,Medical and Health Sciences ,Young Adult ,Rare Diseases ,Cerebellum ,Intellectual Disability ,WDR37 domains ,Genetics ,Animals ,Humans ,2.1 Biological and endogenous factors ,Amino Acid Sequence ,Aetiology ,Child ,Pediatric ,Genetics & Heredity ,Epilepsy ,Microfilament Proteins ,Neurosciences ,Infant ,Undiagnosed Diseases Network ,wdr37 ,Biological Sciences ,Newborn ,Body Dysmorphic Disorders ,bang sensitivity ,Brain Disorders ,Coloboma ,Drosophila melanogaster ,Phenotype ,Mutation ,Neurological ,Congenital Structural Anomalies ,Female ,Drosophila - Abstract
WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a member of the WD40 repeat protein family. Two probands shared one variant and the others have variants in nearby amino acids outside the WD40 repeats. The probands exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability, and cerebellar hypoplasia. The WDR37 protein is highly conserved in vertebrate and invertebrate model organisms and is currently not associated with a human disease. We generated a null allele of the single Drosophila ortholog to gain functional insights and replaced the coding region of the fly gene CG12333/wdr37 with GAL4. These flies are homozygous viable but display severe bang sensitivity, a phenotype associated with seizures in flies. Additionally, the mutant flies fall when climbing the walls of the vials, suggesting a defect in grip strength, and repeat the cycle of climbing and falling. Similar to wall clinging defect, mutant males often lose grip of the female abdomen during copulation. These phenotypes are rescued by using the GAL4 in the CG12333/wdr37 locus to drive the UAS-human reference WDR37 cDNA. The two variants found in three human subjects failed to rescue these phenotypes, suggesting that these alleles severely affect the function of this protein. Taken together, our data suggest that variants in WDR37 underlie a novel syndromic neurological disorder.
- Published
- 2019
490. Relationship of B7-H3 expression in tumor cells and tumor vasculature with FOXP3+ regulatory T cells in renal cell carcinoma
- Author
-
Inamura, Kentaro, Amori, Gulanbar, Yuasa, Takeshi, Yamamoto, Shinya, Yonese, Junji, and Ishikawa, Yuichi
- Subjects
Cancer Management and Research ,renal cancer ,immune checkpoint inhibitor ,immunotherapy ,prognosis ,TIL ,Original Research - Abstract
Kentaro Inamura,1,2Gulanbar Amori,1,2Takeshi Yuasa,3 Shinya Yamamoto,3 Junji Yonese,3 Yuichi Ishikawa1,21Division of Pathology, The Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, Japan; 2Department of Pathology, The Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan; 3Department of Urology, The Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, JapanBackground: B7-H3 (CD276), an immune checkpoint molecule, regulates the tumor-immune microenvironment and controls the aggressiveness of various tumors. Although B7-H3 expression has been associated with the number of tumor-infiltrating FOXP3+ regulatory T cells, little information is available about this association in clear cell renal cell carcinoma (ccRCC).Methods: Using 252 consecutive cases of ccRCC, we examined the association of B7-H3 expression in both the tumor cells and tumor vasculature with the number of tumor-infiltrating FOXP3+ cells and assessed whether the effects of B7-H3 expression on survival differ according to FOXP3+ cell number.Results: High B7-H3 expression was observed in the tumor cells and tumor vasculature in 15% and 54% of ccRCC cases, respectively. High FOXP3+ cell number was positively associated with B7-H3 expression in both the tumor cells (odds ratio [OR]=2.93; P=0.0041) and tumor vasculature (OR=2.45; P=0.0007). Tumor cell B7-H3 expression was associated with increased disease-specific mortality in high FOXP3+ cell number group (hazard ratio [HR]=2.98; P=0.017), but not in low FOXP3+ group (P=0.71). Tumor vasculature B7-H3 expression was also associated with increased disease-specific mortality in high FOXP3+ cell number group (HR=4.86; P=0.0025), but not in low FOXP3+ group (P=0.48).Conclusion: We demonstrate that B7-H3 expression in both tumor cells and the tumor vasculature is positively associated with FOXP3+ cell number. Such expression is also associated with increased mortality in high FOXP3+ cell number group, but not in low FOXP3+ cell number group. These findings suggest that B7-H3-expressing ccRCCs may exert tumor-promoting immunity by interacting with FOXP3+ regulatory T cells in the tumor microenvironment.Keywords: immune checkpoint inhibitor, immunotherapy, prognosis, renal cancer, TIL
- Published
- 2019
491. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region
- Author
-
Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y, Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C, High, Frances A, Sweetser, David A, Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E, Yang, Edward, Waugh, Jeff L, Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gre-Gory M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Francis, Holm, Ingrid A, Horn, Jason, Howerton, Ellen M, Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M, Jones, Angela L, Karaviti, Lefkothea, Koeller, David M, Kohane, Isaac S, Kohler, Jennefer N, Konick, Susan, Koziura, Mary, Krasnewich, Donna M, Krier, Joel B, Kyle, Jennifer E, Lalani, Seema R, Lau, C Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H, Lee, Hane, Levy, Shawn E, Lewis, Richard A, Lincoln, Sharyn A, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Majch-erska, Marta M, Malicdan, May Christine, Mamounas, Laura A, Manolio, Teri A, Markello, Thomas C, Marom, Ronit, Martin, Martin G, Martinez-Agosto, Julian A, Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E, McCray, Alexa F, Merker, Jason D, Metz, Thomas O, Might, Matthew, Moretti, Paolo M, Morimoto, Marie, Mulvihill, John J, Murdock, David R, Murphy, Jennifer L, Muzny, Donna M, Nehrebecky, Michele E, Nelson, Stan F, Newberry, J Scott, Newman, John H, Nicholas, Sarah K, Novacic, Donna, Orange, Jordan S, Orengo, James P, Pallais, J Carl, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Pena, Loren DM, Phillips, John A, Posey, Jennifer E, Postlethwait, John H, Potocki, Lorraine, Pusey, Barbara N, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenfeld, Jill A, Sampson, Jacinda B, Samson, Susan L, Schoch, Kelly, Scott, Daryl A, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K, Sinsheimer, Janet S, Smith, Kevin S, Spillmann, Rebecca C, Stoler, Joan M, Stong, Nicholas, Sullivan, Jennifer A, Tan, Queenie K-G, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Urv, Tiina K, Vilain, Eric, Vogel, Tiphanie P, Waggott, Daryl M, Wahl, Colleen E, Walker, Melissa, Walley, Nicole M, Walsh, Chris A, Wan, Jijun, Wangler, Michael F, Ward, Patricia A, Waters, Katrina M, Webb-Robertson, Bobbie-Jo M, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Wolfe, Lynne A, Worthey, Elizabeth A, Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J, Yu, Guoyun, Zastrow, Diane B, Zhao, Chunli, and Zheng, Allison
- Subjects
0301 basic medicine ,Male ,Movement disorders ,VARIANT ,GTP-Binding Protein alpha Subunits, Gi-Go ,Neurodegenerative ,PHENOTYPE ,Gi-Go ,Epilepsy ,GNAO1 ,developmental and epileptic encephalopathy ,mosaicism ,movement disorders ,0302 clinical medicine ,BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics, Genomics and Proteomics ,2.1 Biological and endogenous factors ,Aetiology ,Child ,Genetics ,Hypotonia ,GTP-Binding Protein alpha Subunits ,Neurology ,Child, Preschool ,Female ,medicine.symptom ,Life Sciences & Biomedicine ,BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka ,Ataxia ,Adolescent ,Encephalopathy ,Clinical Sciences ,Clinical Neurology ,Biology ,MOVEMENT-DISORDER ,G-ALPHA(O) ,Article ,03 medical and health sciences ,Young Adult ,BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Neurology ,medicine ,Humans ,Genetic Predisposition to Disease ,Preschool ,Genetic Association Studies ,Science & Technology ,Neurology & Neurosurgery ,EPILEPTIC ENCEPHALOPATHY ,Neurosciences ,Genetic Variation ,BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Neurologija ,Chorea ,Undiagnosed Diseases Network ,medicine.disease ,Brain Disorders ,MODEL ,030104 developmental biology ,Dyskinesia ,DE-NOVO MUTATIONS ,Neurodevelopmental Disorders ,Case-Control Studies ,Neurosciences & Neurology ,Neurology (clinical) ,030217 neurology & neurosurgery - Abstract
OBJECTIVE: To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. METHODS: We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model. RESULTS: The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with seizures beginning in the first 3 months of life (8/14), developmental delay (4/14), hypotonia (1/14), or movement disorder (1/14). All patients had hypotonia and developmental delay ranging from mild to severe. Nine had epilepsy, and nine had movement disorders, including dystonia, ataxia, chorea, and dyskinesia. The 13 GNAO1 variants in our patients are predicted to result in amino acid substitutions or deletions in the GNAO1 guanosine triphosphate (GTP)-binding region, analogous to those in previous publications. Patients with variants affecting amino acids 207-221 had only movement disorder and hypotonia. Patients with variants affecting the C-terminal region had the mildest phenotypes. SIGNIFICANCE: GNAO1 encephalopathy most frequently presents with seizures beginning in the first 3 months of life. Concurrent movement disorders are also a prominent feature in the spectrum of GNAO1 encephalopathy. All variants affected the GTP-binding domain of GNAO1, highlighting the importance of this region for G-protein signaling and neurodevelopment. ispartof: EPILEPSIA vol:60 issue:3 pages:406-418 ispartof: location:United States status: published
- Published
- 2019
492. Effective Treatment of a Malignant Breast Phyllodes Tumor with Doxorubicin-Ifosfamide Therapy
- Author
-
Yamamoto, Shinya, Yamagishi, Shigeru, Kohno, Toshiro, Tajiri, Ryosuke, Gondo, Toshikazu, Yoshimoto, Noboru, and Kusano, Nobuko
- Subjects
Article Subject ,respiratory system ,respiratory tract diseases - Abstract
Malignant phyllodes tumors of the breast occur infrequently and are difficult to treat with chemotherapy. Here, we present an effective chemotherapy strategy for recurrent malignant breast phyllodes tumors. A 48-year-old woman was diagnosed with a malignant phyllodes tumor in her right breast and underwent total right mastectomy. One year later, the tumor recurred in the right (a 2.2 cm mass) and left (a 10 cm mass) lungs; pleural effusion was also observed in the left lung. Eight courses of doxorubicin-ifosfamide (AI) therapy were administered. After treatment, the right lung mass and pleural effusion regressed completely and the left lung mass regressed to 2 cm. In conclusion, AI therapy is useful for treating recurrent malignant breast phyllodes tumors.
- Published
- 2019
- Full Text
- View/download PDF
493. Direct comparison between transrectal and transperineal extended prostate biopsy for the detection of cancer
- Author
-
Kawakami, Satoru, Yamamoto, Shinya, Numao, Noboru, Ishikawa, Yuichi, Kihara, Kazunori, and Fukui, Iwao
- Published
- 2007
494. Antegrade Radical Retropubic Prostatectomy with Preliminary Ligation of Vascular Pedicles in 614 Consecutive Patients
- Author
-
Kawakami, Satoru, Fukui, Iwao, Yonese, Junji, Okubo, Yuhei, Yamamoto, Shinya, Tsukamoto, Tetsuro, and Ishikawa, Yuichi
- Published
- 2007
495. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
- Author
-
Splinter, Kimberly, Adams, David R, Bacino, Carlos A, Bellen, Hugo J, Bernstein, Jonathan A, Cheatle-Jarvela, Alys M, Eng, Christine M, Esteves, Cecilia, Gahl, William A, Hamid, Rizwan, Jacob, Howard J, Kikani, Bijal, Koeller, David M, Kohane, Isaac S, Lee, Brendan H, Loscalzo, Joseph, Luo, Xi, McCray, Alexa T, Metz, Thomas O, Mulvihill, John J, Nelson, Stanley F, Palmer, Christina GS, Phillips, John A, Pick, Leslie, Postlethwait, John H, Reuter, Chloe, Shashi, Vandana, Sweetser, David A, Tifft, Cynthia J, Walley, Nicole M, Wangler, Michael F, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Worthey, Elizabeth A, Yamamoto, Shinya, Ashley, Euan A, and Undiagnosed Diseases Network
- Subjects
Adult ,Male ,Medical and Health Sciences ,Rare Diseases ,Models ,Clinical Research ,General & Internal Medicine ,Diagnosis ,Genetics ,Animals ,Humans ,Exome ,Genetic Testing ,Child ,Animal ,Human Genome ,Undiagnosed Diseases Network ,Syndrome ,DNA ,Health Care Costs ,Health Services ,United States ,Good Health and Well Being ,National Institutes of Health (U.S.) ,Differential ,Drosophila ,Female ,Digestive Diseases ,Sequence Analysis - Abstract
BackgroundMany patients remain without a diagnosis despite extensive medical evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a multidisciplinary model in the evaluation of the most challenging cases and to identify the biologic characteristics of newly discovered diseases. The UDN, which is funded by the National Institutes of Health, was formed in 2014 as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a central biorepository, a metabolomics core, and a model organisms screening center were added.MethodsWe evaluated patients who were referred to the UDN over a period of 20 months. The patients were required to have an undiagnosed condition despite thorough evaluation by a health care provider. We determined the rate of diagnosis among patients who subsequently had a complete evaluation, and we observed the effect of diagnosis on medical care.ResultsA total of 1519 patients (53% female) were referred to the UDN, of whom 601 (40%) were accepted for evaluation. Of the accepted patients, 192 (32%) had previously undergone exome sequencing. Symptoms were neurologic in 40% of the applicants, musculoskeletal in 10%, immunologic in 7%, gastrointestinal in 7%, and rheumatologic in 6%. Of the 382 patients who had a complete evaluation, 132 received a diagnosis, yielding a rate of diagnosis of 35%. A total of 15 diagnoses (11%) were made by clinical review alone, and 98 (74%) were made by exome or genome sequencing. Of the diagnoses, 21% led to recommendations regarding changes in therapy, 37% led to changes in diagnostic testing, and 36% led to variant-specific genetic counseling. We defined 31 new syndromes.ConclusionsThe UDN established a diagnosis in 132 of the 382 patients who had a complete evaluation, yielding a rate of diagnosis of 35%. (Funded by the National Institutes of Health Common Fund.).
- Published
- 2018
496. Correction: A report of stillbirth and subsequent maternal cannibalism observed in a free-ranging group of Japanese macaques at Awajishima, Japan.
- Author
-
Kaigaishi, Yu and Yamamoto, Shinya
- Subjects
MACAQUES ,JAPANESE macaque ,CERCOPITHECIDAE ,CANNIBALISM ,STILLBIRTH - Abstract
This document is a correction notice for an article titled "A report of stillbirth and subsequent maternal cannibalism observed in a free-ranging group of Japanese macaques at Awajishima, Japan." The correction provides missing elements and corrects errors in the original article. The corrected version discusses the possible explanations for maternal cannibalism observed in Japanese macaques, suggesting that it may be an extension of placental consumption and could provide benefits to the mother. The document also highlights the difference between consuming the placenta and maternal cannibalism, and notes that the observed behaviors align with previous cases of maternal cannibalism in Old World monkeys. The conclusion suggests that maternal cannibalism may be a naturalistic behavior related to stillbirths, but also emphasizes the potential risks associated with cannibalism. [Extracted from the article]
- Published
- 2023
- Full Text
- View/download PDF
497. Cathepsin E–Deficient Mice Show Increased Susceptibility to Bacterial Infection Associated with the Decreased Expression of Multiple Cell Surface Toll-Like Receptors
- Author
-
Tsukuba, Takayuki, Yamamoto, Shinya, Yanagawa, Michiyo, Okamoto, Kuniaki, Okamoto, Yoshiko, Nakayama, Keiichi I., Kadowaki, Tomoko, and Yamamoto, Kenji
- Published
- 2006
498. The possibility of ‘de novo’ cancer in the prostate
- Author
-
YAMAMOTO, SHINYA, ITO, TAKAAKI, AIZAWA, TAKU, MIKI, MAKOTO, and FURUSATO, MASAKUNI
- Published
- 2005
499. Effects of handedness on tactile temporal order judgment
- Author
-
Wada, Makoto, Yamamoto, Shinya, and Kitazawa, Shigeru
- Published
- 2004
- Full Text
- View/download PDF
500. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- Author
-
Fresard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, G. Martin, Martinez-Agosto, Julian A., May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteria, Genecee, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tan, Queenie K. -G., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zhao, Chunli, Zheng, Allison, Boycott, Kym, MacKenzie, Alex, Majewski, Jacek, Brudno, Michael, Bulman, Dennis, Dyment, David, Fresard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, G. Martin, Martinez-Agosto, Julian A., May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteria, Genecee, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tan, Queenie K. -G., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zhao, Chunli, Zheng, Allison, Boycott, Kym, MacKenzie, Alex, Majewski, Jacek, Brudno, Michael, Bulman, Dennis, and Dyment, David
- Abstract
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution., Group Authors: Undiagnosed Dis Network ; Care4Rare Canada Consortium
- Published
- 2019
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.