Results 91 to 100 of about 7,548,191 (313)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Diversity in gene expression profiles captured through highly resolved whole-transcriptome profiling of clinical and laboratory-adapted malaria parasite isolates

, 2018
We present highly replicated whole transcriptome gene expression profiles of schizont-stage malaria parasites using RNA-seq analysis of multiple clinical isolates and laboratory-adapted lines Methods: Transcript profiles of schizont-stage laboratory ...
Tarr, Sarah J., Conway, David J.
core   +3 more sources

Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells

Frontiers in Genetics, 2018
Down syndrome (DS) is due to the presence of an extra full or partial chromosome 21 (Hsa21). The identification of genes contributing to DS pathogenesis could be the key to any rational therapy of the associated intellectual disability.
Maria Chiara Pelleri, Chiara Cattani, Lorenza Vitale, Francesca Antonaros, Pierluigi Strippoli, Chiara Locatelli, Guido Cocchi, Allison Piovesan, Maria Caracausi   +8 more
doaj   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

The H-Invitational Database (H-InvDB), a comprehensive annotation resource for human genes and transcripts [PDF]

, 2007
Here we report the new features and improvements in our latest release of the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/), a comprehensive annotation resource for human genes and transcripts.
Murakami, Katsuhiko, Shionyu, Masafumi, Nagata, Naoki, Tanaka, S., Kuryshev, Vladimir, Eveno, E., Mukai, Yuri, Imbeaud, S., Makalowski, W., Zhang, Q., Sakai, Katsunaga, Thomas, Michaeｌ A., Imanishi, T., Lee, Kyung-Bum, Tanaka, Masayuki, Thomas, M.A., Barrero, Roberto, Osanger, A., Tanaka, Susumu, Lenhard, B., Shiba, Rie, Sugano, S., Sakate, Ryuichi, Nakai, K., Wilming, L., Jia, Libin, Kawamura, Toshiyuki, Nishikawa, T., Thierry-Mieg, J., Kawahara, Yoshihiro, Harada, E., Kimura, K., Suzuki, Yutaka, Tanaka, Nobuhiko, Yasuda, T., Kawamura, T., Sanbonmatsu, Ryoko, Barrero, R.A., Yamaguchi, Kaori, Hide, Winston, Auffray, C., Horton, Paul, Niimura, Y., Shimoyama, Mary, Thomas, Michael, Tonellato, Peter, Hilton, P.B., Kikuno, Reiko, Kanno, Masako, Sugawara, Hideaki, Isogai, T., Sakai, Hiroaki, Whitfield, Eleanor, Nishikata, K., Matsuya, Aki, Halligan, B., Ohtsubo, Masafumi, Shiba, R., Fukuchi, S., Lee, K-B, Takabayashi, K., Sakate, R., Nurimoto, S., Kaneko, Yayoi, Nagasaki, H., Hayashizaki, Yoshihide, Lin, Yi-Chueh, Bellgard, M., Minoshima, Shinsei, Motono, C., Amid, Clara, Schupp, Ingo, Osato, N., Wagner, L., Isogai, Takao, Ohyanagi, H., Yura, Kei, Akiyama, Y., Jia, Ji, Yamaguchi, K., O’Donovan, C., Endo, T., O'Donovan, C., Matsuya, Akihiro, Yamamoto, N., Jin, L., Hirakawa, M., Chun, Hong-Woo, Makino, Takashi, Thierry-Mieg, D., Jia, L., Tada, Masahito, Twigger, Simon, Jin, Ji, Zhang, Qinghua, Nurimoto, Shin, Tamura, T., Bonaldo, M.D.F., Todokoro, Fusano, Nozaki, A., Ohara, Osamu, De Souza, Sandro J., Hayakawa, Yosuke, Nagata, N., Koyanagi, K.O., Gojobori, T., Kim, N-S, Yamasaki, Chisato, Shimoyama, M., Makalowska, I., Yoo, H-S, Lancet, D., Imbeaud, Sandrine, Takeda, Jun, Sanbonmatsu, R., Nakai, Kenta, Debily, Anne, Yura, K., Shionyu, M., Todokoro, F., Ikeo, K., Osanger, Andreas, Hanaoka, Hideki, Tanino, Motohiko, Eveno, Eric, Estreicher, Anne, Nozaki, Asami, Sugano, Sumio, O'Donovan, Claire, De Souza, S.J., Bonaldo, Maria de Fatima, Kikuno, R., Murakami, K., Mukai, Y., Lancet, Doron, Hayakawa, Y., Lin, Y., Ogura Noda, Akiko, Hashizume, A., Kim, Nam-Soon, Takeda, J., Thierry-Mieg, Jean, Koyanagi, Kanako O., Mashima, J., Hilton, Phillip, Nakao, M., Saitou, N., Ohtsubo, M., Niimura, Yoshihito, Takahashi, Aiko, Nishikawa, K., Suzuki, Yoshiyuki, Habara, Takuya, Kikugawa, S., Han, Michael, Kuryshev, V., Tamura, Takuro, Shimada, M., Ohyanagi, Hajime, Tanino, M., Tateno, Y., Yamaguchi-Kabata, Y., Sato, Y., Suzuki, Mami, Ikeo, Kazuho, Chiusano, Maria Luisa, Lenhard, Boris, Go, Mitiko, Taniya, Takayuki, Itoh, Takeshi, Takahashi, A., Hinz, Ursula, Kikugawa, Shingo, Hide, Hideaki, Tanaka, M., Matsuya, A., Amid, C., Hirakawa, Mika, Debily, M.A., Akiyama, Yutaka, Suzuki, Y., Hishiki, T., Nomura, N., Koyanagi, Kanako, Fujii, Y., Hinz, U., Sugawara, H., Saitou, Naruya, Zhang, J., Chakraborty, R., Debily, Marie Anne, Wagner, Lukas, Noda, Aki, Sakai, H., Schupp, I., Nishikata, Ken, Hanaoka, H., Miyazaki, S., Kaneko, Y., Kim, S., Habara, T., Tanaka, N., Hishiki, Teruyoshi, Minoshima, S., Satake, Ryuichi, Nakai, Ken, Lin, Y-C, Bellgard, Matthew, Yoo, H., Suwa, M., Nishikawa, Tetsuo, Chun, H., Nagasaki, H, Okido, T., Wiemann, S., Kawahara, Y., Hayashizaki, Y., Barrero, Roberto A., Nishikata, Kensaku, Miyazaki, Satoru, Soares, Marcelo Bento, Han, M., Chen, Z., Kikugawa, Shin, Whitfield, E., Debily, M., Hide, W., Takabayashi, Kazuhiko, Fukuchi, Satoshi, Motono, Chie, Yoo, Hyang-Sook, Tada, M., Fujii, Yasuyuki, Nomura, Nobuo, Estreicher, A., Auffray, Charles, Gough, Craig, Tonellato, P., Wilming, Laurens, Mashima, Jun, Wiemann, Stefan, Ohara, O., Graudens, E., Hanada, Kousuke, Hashizume, Aki, Go, M., Zhang, Ji, Gough, C., Noda, A.O., Yasuda, Tomohiro, Chen, Zhu, Graudens, Esther, Nakao, Mitsuteru, Imanishi, Tadashi, Harada, Erimi, Kimura, Kouichi, Suwa, Makiko, Nagasaki, Hideki, Hilton, Philip B., Yamaguchi-Kabata, Yumi, Chiusano, M.L., Kulikova, T., Yamamoto, Naoyuki, Chakraborty, Ranajit, Saichi, Naomi, Kim, Sangsoo, Kulikova, Tamara, Makalowska, Izabela, Thierry-Mieg, Danielle, Suzuki, M., Taniya, T., Sakai, K., Okido, Toshihisa, Halligan, Brian, Chun, H-W, Twigger, S., Takeda, Jun-ichi, Yamasaki, C., Makino, T., Tiffin, Nicola, Nishikawa, Ken, Gojobori, Takashi, Kanno, M., Shimada, Makoto, Makalowski, Wojciech, Horton, P., Hanada, K., Tiffin, N., Osato, Naoki, Sato, Yoshiharu, Tateno, Yoshio, Saichi, N., Takeda, J-I, Jin, Lihua, Endo, Toshinori, Bonaldo, M., Soares, M.B., Itoh, T., Lee, K., Kim, N., K Murakami, T Imanishi, T Gojobori, Hyang Sook Yoo, Nam-Soon Kim, Y Sato, E Harada, J Takeda, Y Fujii, S Kim, C Yamasaki, de Souza, Sandro   +311 more
core   +1 more source

Co-expression Gene Network Analysis and Functional Module Identification in Bamboo Growth and Development

Frontiers in Genetics, 2018
Bamboo is one of the fastest-growing non-timber forest plants. Moso bamboo (Phyllostachys edulis) is the most economically valuable bamboo in Asia, especially in China.
Xuelian Ma, Hansheng Zhao, Wenying Xu, Qi You, Hengyu Yan, Zhimin Gao, Zhen Su   +6 more
doaj   +1 more source

Intracerebral Hemorrhage Induces Monocyte TNF Signaling in Patients That Is Suppressed by BAF312

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Intracerebral hemorrhage (ICH) causes high morbidity and mortality, with neurotoxic inflammation driven by infiltrating monocytes. This study is an in‐depth longitudinal examination of the immune response during the first week of ICH in the presence and absence of the immunomodulatory drug BAF312 (Siponimod).
Jonathan Howard DeLong, Sebastian Díaz‐Pérez, Kevin Navin Sheth, Jang‐Ho Cha, C. J. Malanga, Patricia G. M. Wagner, Nicole Pezous, Aurelie Hanin, Kyle B. Walsh, H. E. Hinson, Lauren Hachmann Sansing   +10 more
wiley   +1 more source

Enhanced gene trapping in mouse embryonic stem cells [PDF]

, 2008
Gene trapping is used to introduce insertional mutations into genes of mouse embryonic stem cells (ESCs). It is performed with gene trap vectors that simultaneously mutate and report the expression of the endogenous gene at the site of insertion and ...
Hansen, J., von Melchner, H., Ruiz Noppinger, Patricia, Wurst, W., Schnütgen, Frank, Floss, Thomas, Hansen, Jens, Horn, C., Ruiz Noppinger, P., Horn, Carsten, Lutz, M., Lutz, Marcus, Schnütgen, F., De-Zolt, Silke, De-Zolt, S., Wurst, Wolfgang, Melchner, Harald von (Prof. Dr.), Floß, T.   +17 more
core   +1 more source

Patients improve, patterns persist: longitudinal stability of RA joint involvement patterns

Arthritis Care &Research, Accepted Article.
Objective Rheumatoid arthritis is a heterogeneous disease. Data‐driven approaches, from synovial histology to joint involvement patterns (JIPs), have sought to define clinically meaningful subgroups. Whether these subgroups represent stable phenotypes or transient disease states remains unclear.
Tjardo Maarseveen, Yasuo Nagafuchi, Kristina Lend, Seyam Alemyar, Herman Kasper Glas, Gerdur Gröndal, Bjorn Gudbjornsson, Espen A. Haavardsholm, Kim Hørslev Petersen, Jon Lampa, Merete Lund Hetland, Dan Nordström, Mike Nurmohamed, Mikkel Østergaard, Anna Rudin, Marte Schrumpf Heiberg, Tuulikki Sokka‐Isler, Till Uhlig, Josien Veris‐van Dieren, Ronald van Vollenhoven, Tom Huizinga, Marcel JT Reinders, Sytske Anne Bergstra, Erik van den Akker, Rachel Knevel   +24 more
wiley   +1 more source

SuperSAGE : the drought stress-responsive transcriptome of chickpea roots [PDF]

, 2008
Background Drought is the major constraint to increase yield in chickpea (Cicer arietinum). Improving drought tolerance is therefore of outmost importance for breeding. However, the complexity of the trait allowed only marginal progress.
Matsumura, Hideo, Horres, Ralf, Terauchi, Ryohei, Rotter, Björn, Udupa, Sripada M., Baum, Michael, Kahl, Günter, Winter, Peter, Bellarmino, Luis, Besser, Bert, Molina, Carlos, Hideo Matsumura, Ryohei Terauchi, Carlos Molina, Ralf Horres, Luis Bellarmino, Björn Rotter, Bert Besser, Michael Baum, Peter Winter, Sripada M Udupa, Günter Kahl   +21 more
core   +1 more source