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239 research outcomes, page 1 of 24
  • publication . Article . 2013
    Open Access English
    Authors:
    Leonora Balaj; Hiroshi Ichinose;
    Publisher: Public Library of Science
    Project: NIH | Administrative Core (5P50NS037409-11)

    Background Mutations in the GCH1 gene are associated with childhood onset, dopa-responsive dystonia (DRD). Correct diagnosis of DRD is crucial, given the potential for complete recovery once treated with L-dopa. The majority of DRD associated mutations lie within the co...

  • publication . Article . 2008
    Open Access English
    Authors:
    Hiroyuki Mishima;
    Publisher: BioMed Central
    Project: NSF | NSF-EMT: A Merging Multi-... (0727007), NIH | Cleft Lip Genetics: A Mul... (5R01DE014667-06)

    <p>Abstract</p> <p>Background</p> <p>Genetic association studies have been used to map disease-causing genes. A newly introduced statistical method, called exhaustive haplotype association study, analyzes genetic information consisting of different numbers and combinati...

  • publication . Article . Other literature type . 2019
    Open Access English
    Authors:
    Depledge, Daniel P.; Srinivas, Kalanghad Puthankalam; Sadaoka, Tomohiko; Bready, Devin; Mori, Yasuko; Placantonakis, Dimitris G.; Mohr, Ian; Wilson, Angus C.;
    Publisher: Nature Publishing Group UK
    Project: NIH | Virus Host Interactions t... (3R01AI073898-05S1), NIH | Institutional Clinical an... (5UL1TR000038-05), NIH | Experimental Pathology (5P30CA016087-32), NIH | Modeling herpes simplex v... (1R21AI130618-01A1), NIH | CONTROL OF TRANSLATION IN... (5R01GM056927-04)

    Characterizing complex viral transcriptomes by conventional RNA sequencing approaches is complicated by high gene density, overlapping reading frames, and complex splicing patterns. Direct RNA sequencing (direct RNA-seq) using nanopore arrays offers an exciting alternat...

  • publication . Article . Other literature type . 2016
    Open Access English
    Authors:
    Khoory, Joseph; Estanislau, Jessica; Elkhal, Abdallah; Lazaar, Asmae; Melhorn, Mark I.; Brodsky, Abigail; Illigens, Ben; Hamachi, Itaru; Kurishita, Yasutaka; Ivanov, Alexander R.; ...
    Publisher: Public Library of Science (PLoS)
    Project: NIH | Modulation of erythrocyte... (5R01HL096795-04)

    Acute, inflammatory conditions associated with dysregulated complement activation are characterized by significant increases in blood concentration of reactive oxygen species (ROS) and ATP. The mechanisms by which these molecules arise are not fully understood. In this ...

  • publication . Other literature type . Article . 2019
    Open Access
    Authors:
    Hsu, Kuo-Shun; Otsu, Wataru; Li, Yao; Wang, Heuy-Ching; Chen, Shuibing; Tsang, Stephen H.; Chuang, Jen-Zen; Sung, Ching-Hwa;
    Publisher: Springer Science and Business Media LLC
    Project: NIH | Cytoskeletons role in RPE... (5R01EY016805-05), NIH | Endosome regulated photor... (1R01EY029428-01)

    Abstract Dysregulation in the extracellular matrix (ECM) microenvironment surrounding the retinal pigment epithelium (RPE) has been implicated in the etiology of proliferative vitreoretinopathy and age-related macular degeneration. The regulation of ECM remodeling by RP...

  • publication . Doctoral thesis . Article . 2019
    Open Access English
    Authors:
    Kimani, Cecilia; Kadota, Aya; Miura, Katsuyuki; Fujiyoshi, Akira; Zaid, Maryam; Kadowaki, Sayaka; Hisamatsu, Takashi; Arima, Hisatomi; Horie, Minoru; Ueshima, Hirotsugu;
    Publisher: 滋賀医科大学
    Project: NIH | Foreign Cohort (5R01HL068200-02)

    平成30年度

  • publication . Article . 2016
    Open Access English
    Authors:
    Deborah Chasman;
    Publisher: Public Library of Science
    Project: NIH | Systems Biology Analysis ... (5U19AI106772-03)

    Mammalian host response to pathogenic infections is controlled by a complex regulatory network connecting regulatory proteins such as transcription factors and signaling proteins to target genes. An important challenge in infectious disease research is to understand mol...

  • publication . Article . Other literature type . 2014
    Open Access
    Authors:
    Yoshifumi Yamaguchi; Takeshi Kawauchi; Chisako Sakuma; Vladimir Gelfand;
    Publisher: Springer Science and Business Media LLC
    Project: NIH | Assembly of the Central O... (5R01DC005982-13), NIH | Structure and function of... (5R01GM085232-04), NIH | Bloomington Drosophila St... (3P40OD018537-04S1)

    This work was supported by grants from the National Institute of General Medical Science of the National Institutes of Health (R01-GM085232 to V.I.G.), the National Institutes of Health (R01-DC005982 to L.L.), the Japanese Ministry of Education, Science, Sports, Culture...

  • publication . Article . Other literature type . 2018
    Open Access English
    Authors:
    Burgos, Anita; Honjo, Ken; Ohyama, Tomoko; Qian, Cheng Sam; Shin, Grace Ji-Eun; Gohl, Daryl M; Silies, Marion; Tracey, W Daniel; Zlatic, Marta; Cardona, Albert; ...
    Publisher: eLife
    Project: NIH | A Genome-Wide Analysis of... (5R01GM086458-03), NIH | Dendritic patterning by i... (2R01NS061908-06), NIH | Dissection of neural circ... (1F31NS090909-01), NIH | A versatile system for ce... (5R24NS086564-02)

    <jats:p>Rapid and efficient escape behaviors in response to noxious sensory stimuli are essential for protection and survival. Yet, how noxious stimuli are transformed to coordinated escape behaviors remains poorly understood. In Drosophila larvae, noxious stimuli trigg...

  • publication . Article . Other literature type . 2017
    Open Access English
    Authors:
    Saumya Das;
    Publisher: Springer Nature
    Project: NIH | Research Methods in Pedia... (2T32HL007572-32), NIH | Genetics and Mechanisms o... (5R01HL127692-02), NIH | CELLULAR AND DEVELOPMENTA... (5T32GM007226-12)

    Alterations in sodium flux (INa) play an important role in the pathogenesis of cardiac arrhythmias and may also contribute to the development of cardiomyopathies. We have recently demonstrated a critical role for the regulation of the voltage-gated sodium channel NaV1.5...

239 research outcomes, page 1 of 24
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