Search Results - "OHSUMI, K"

The microglial sensome revealed by direct RNA sequencing by Hickman, Suzanne E, Kingery, Nathan D, Ohsumi, Toshiro K, Borowsky, Mark L, Wang, Li-chong, Means, Terry K, El Khoury, Joseph

“…In this Resource study, the authors used Direct RNA Sequencing (DRS) to quantitatively examine the transcriptional profile of microglia, focusing specifically…”
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Genome-wide Identification of Polycomb-Associated RNAs by RIP-seq by Zhao, Jing, Ohsumi, Toshiro K., Kung, Johnny T., Ogawa, Yuya, Grau, Daniel J., Sarma, Kavitha, Song, Ji Joon, Kingston, Robert E., Borowsky, Mark, Lee, Jeannie T.

“…Polycomb proteins play essential roles in stem cell renewal and human disease. Recent studies of HOX genes and X inactivation have provided evidence for RNA…”
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Genome-wide Chromatin Interactions of the Nanog Locus in Pluripotency, Differentiation, and Reprogramming by Apostolou, Effie, Ferrari, Francesco, Walsh, Ryan M., Bar-Nur, Ori, Stadtfeld, Matthias, Cheloufi, Sihem, Stuart, Hannah T., Polo, Jose M., Ohsumi, Toshiro K., Borowsky, Mark L., Kharchenko, Peter V., Park, Peter J., Hochedlinger, Konrad

“…The chromatin state of pluripotency genes has been studied extensively in embryonic stem cells (ESCs) and differentiated cells, but their potential…”
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Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration by Badran, Yousef R, Dedeoglu, Fatma, Leyva Castillo, Juan Manuel, Bainter, Wayne, Ohsumi, Toshiro K, Bousvaros, Athos, Goldsmith, Jeffrey D, Geha, Raif S, Chou, Janet

“…The treatment of chronic mucocutaneous ulceration is challenging, and only some patients respond selectively to inhibitors of tumor necrosis factor-α (TNF)…”
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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency by Jabara, Haifa H, Boyden, Steven E, Chou, Janet, Ramesh, Narayanaswamy, Massaad, Michel J, Benson, Halli, Bainter, Wayne, Fraulino, David, Rahimov, Fedik, Sieff, Colin, Liu, Zhi-Jian, Alshemmari, Salem H, Al-Ramadi, Basel K, Al-Dhekri, Hasan, Arnaout, Rand, Abu-Shukair, Mohammad, Vatsayan, Anant, Silver, Eli, Ahuja, Sanjay, Davies, E Graham, Sola-Visner, Martha, Ohsumi, Toshiro K, Andrews, Nancy C, Notarangelo, Luigi D, Fleming, Mark D, Al-Herz, Waleed, Kunkel, Louis M, Geha, Raif S

“…Raif Geha, Louis Kunkel, Waleed Al-Herz and colleagues report a mutation in TFRC (encoding transferrin receptor 1, TfR1) that causes combined immunodeficiency…”
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Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations by Pinter, Stefan F, Sadreyev, Ruslan I, Yildirim, Eda, Jeon, Yesu, Ohsumi, Toshiro K, Borowsky, Mark, Lee, Jeannie T

“…X chromosome inactivation (XCI) achieves dosage balance in mammals by repressing one of two X chromosomes in females. During XCI, the long noncoding Xist RNA…”
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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries by Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia M., Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David J., Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.

“…Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of single-gene disruptions in neurodevelopmental disorders (NDDs). We…”
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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA by Charbonnier, Louis-Marie, PhD, Janssen, Erin, MD, PhD, Chou, Janet, MD, Ohsumi, Toshiro K., PhD, Keles, Sevgi, MD, Hsu, Joyce T., MD, Massaad, Michel J., PhD, Garcia-Lloret, Maria, MD, Hanna-Wakim, Rima, MD, Dbaibo, Ghassan, MD, Alangari, Abdullah A., MD, Alsultan, Abdulrahman, MD, Al-Zahrani, Daifulah, MD, Geha, Raif S., MD, Chatila, Talal A., MD, MSc

“…Background A number of heritable immune dysregulatory diseases result from defects affecting regulatory T (Treg) cell development, function, or both. They…”
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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration by Chiang, Colby, Jacobsen, Jessie C, Ernst, Carl, Hanscom, Carrie, Heilbut, Adrian, Blumenthal, Ian, Mills, Ryan E, Kirby, Andrew, Lindgren, Amelia M, Rudiger, Skye R, McLaughlan, Clive J, Bawden, C Simon, Reid, Suzanne J, Faull, Richard L M, Snell, Russell G, Hall, Ira M, Shen, Yiping, Ohsumi, Toshiro K, Borowsky, Mark L, Daly, Mark J, Lee, Charles, Morton, Cynthia C, MacDonald, Marcy E, Gusella, James F, Talkowski, Michael E

“…Michael Talkowski and colleagues examine karyotypically balanced genomic rearrangement landscapes in the germline at single-nucleotide resolution. They find…”
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Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research by Talkowski, Michael E., Ernst, Carl, Heilbut, Adrian, Chiang, Colby, Hanscom, Carrie, Lindgren, Amelia, Kirby, Andrew, Liu, Shangtao, Muddukrishna, Bhavana, Ohsumi, Toshiro K., Shen, Yiping, Borowsky, Mark, Daly, Mark J., Morton, Cynthia C., Gusella, James F.

“…The contribution of balanced chromosomal rearrangements to complex disorders remains unclear because they are not detected routinely by genome-wide microarrays…”
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The CIP2A-TOPBP1 axis safeguards chromosome stability and is a synthetic lethal target for BRCA-mutated cancer by Adam, Salomé, Rossi, Silvia Emma, Moatti, Nathalie, De Marco Zompit, Mara, Xue, Yibo, Ng, Timothy F, Álvarez-Quilón, Alejandro, Desjardins, Jessica, Bhaskaran, Vivek, Martino, Giovanni, Setiaputra, Dheva, Noordermeer, Sylvie M, Ohsumi, Toshiro K, Hustedt, Nicole, Szilard, Rachel K, Chaudhary, Natasha, Munro, Meagan, Veloso, Artur, Melo, Henrique, Yin, Shou Yun, Papp, Robert, Young, Jordan T F, Zinda, Michael, Stucki, Manuel, Durocher, Daniel

“…BRCA1/2-mutated cancer cells adapt to the genome instability caused by their deficiency in homologous recombination (HR). Identification of these adaptive…”
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Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies by Chou, Janet, Ohsumi, Toshiro K, Geha, Raif S

“…PURPOSE OF REVIEWThis review discusses the strengths and challenges of using whole genome sequencing (WGS)/whole exome sequencing (WES) for identifying novel…”
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Functional analysis of the microtubule-interacting transcriptome by Sharp, Judith A, Plant, Joshua J, Ohsumi, Toshiro K, Borowsky, Mark, Blower, Michael D

“…RNA localization is an important mechanism for achieving precise control of posttranscriptional gene expression. Previously, we demonstrated that a subset of…”
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Tumour necrosis factor α signalling through activation of Kupffer cells plays an essential role in liver fibrosis of non-alcoholic steatohepatitis in mice by Tomita, K, Tamiya, G, Ando, S, Ohsumi, K, Chiyo, T, Mizutani, A, Kitamura, N, Toda, K, Kaneko, T, Horie, Y, Han, J-Y, Kato, S, Shimoda, M, Oike, Y, Tomizawa, M, Makino, S, Ohkura, T, Saito, H, Kumagai, N, Nagata, H, Ishii, H, Hibi, T

“…Background: While tumour necrosis factor α (TNF-α) appears to be associated with the development of non-alcoholic steatohepatitis (NASH), its precise role in…”
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Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association by Yee, Christina S., MD, PhD, Massaad, Michel J., PhD, Bainter, Wayne, BA, Ohsumi, Toshiro K., PhD, Föger, Niko, PhD, Chan, Andrew C., MD, PhD, Akarsu, Nurten A., MD, Aytekin, Caner, MD, Ayvaz, Deniz Çagdas, MD, PhD, Tezcan, Ilhan, MD, PhD, Sanal, Özden, MD, Geha, Raif S., MD, Chou, Janet, MD

“…Background Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T− B+ natural killer–positive severe…”
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Histone H3R2 Symmetric Dimethylation and Histone H3K4 Trimethylation Are Tightly Correlated in Eukaryotic Genomes by Yuan, Chih-Chi, Matthews, Adam G.W., Jin, Yi, Chen, Chang Feng, Chapman, Brad A., Ohsumi, Toshiro K., Glass, Karen C., Kutateladze, Tatiana G., Borowsky, Mark L., Struhl, Kevin, Oettinger, Marjorie A.

“…The preferential in vitro interaction of the PHD finger of RAG2, a subunit of the V(D)J recombinase, with histone H3 tails simultaneously trimethylated at…”
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MUT-14 and SMUT-1 DEAD Box RNA Helicases Have Overlapping Roles in Germline RNAi and Endogenous siRNA Formation by Phillips, Carolyn M., Montgomery, Brooke E., Breen, Peter C., Roovers, Elke F., Rim, Young-Soo, Ohsumi, Toshiro K., Newman, Martin A., van Wolfswinkel, Josien C., Ketting, Rene F., Ruvkun, Gary, Montgomery, Taiowa A.

“…More than 2,000 C. elegans genes are targeted for RNA silencing by the mutator complex, a specialized small interfering RNA (siRNA) amplification module which…”
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A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function by Chou, Janet, MD, Badran, Yousef R., MD, Yee, Christina S.K., MD, PhD, Bainter, Wayne, BA, Ohsumi, Toshiro K., PhD, Al-Hammadi, Suleiman, MD, Pai, Sung-Yun, MD, Feske, Stefan, MD, Geha, Raif S., MD

“…To the Editor: Calcium serves as a second messenger for activating Ca2+-dependent enzymes pivotal for lymphocyte activation.1,2 T-, B-, and natural killer…”
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Transposon activation mutagenesis as a screening tool for identifying resistance to cancer therapeutics by Chen, Li, Stuart, Lynda, Ohsumi, Toshiro K, Burgess, Shawn, Varshney, Gaurav K, Dastur, Anahita, Borowsky, Mark, Benes, Cyril, Lacy-Hulbert, Adam, Schmidt, Emmett V

“…The development of resistance to chemotherapies represents a significant barrier to successful cancer treatment. Resistance mechanisms are complex, can involve…”
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Lessons in gene hunting: A RAG1 mutation presenting with agammaglobulinemia and absence of B cells by Hedayat, Mona, MD, Massaad, Michel J., PhD, Lee, Yu Nee, PhD, Conley, Mary Ellen, MD, Orange, Jordan S., MD, PhD, Ohsumi, Toshiro K., PhD, Al-Herz, Waleed, MD, Notarangelo, Luigi D., MD, Geha, Raif S., MD, Chou, Janet, MD

“…Quantification of T-cell receptor excision circles can identify poor thymic output, even in the case of normal T-cell numbers due to maternal engraftment or…”
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