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Seto, elaine

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https://www.readbyqxmd.com/read/26870756/dataset-for-a-case-report-of-a-homozygous-pex16-f332del-mutation
#1
Carlos Bacino, Yu-Hsin Chao, Elaine Seto, Tim Lotze, Fan Xia, Richard O Jones, Ann Moser, Michael F Wangler
This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in Molecular Genetics and Metabolism Reports was ultimately diagnosed with an atypical peroxisomal disorder on exome sequencing. A clinical timeline and diagnostic summary, results of an extensive plasma and fibroblast analysis of this patient׳s peroxisomal profile is provided. In addition, a table of additional variants from the exome analysis is provided...
March 2016: Data in Brief
https://www.readbyqxmd.com/read/26644994/a-homozygous-mutation-in-pex16-identified-by-whole-exome-sequencing-ending-a-diagnostic-odyssey
#2
Carlos Bacino, Yu-Hsin Chao, Elaine Seto, Tim Lotze, Fan Xia, Richard O Jones, Ann Moser, Michael F Wangler
We present a patient with a unique neurological phenotype with a progressive neurodegenerative phenotype. An 18-year diagnostic odyssey for the patient ended when exome sequencing identified a homozygous PEX16 mutation suggesting an atypical peroxisomal biogenesis disorder (PBD). Interestingly, the patient's peroxisomal biochemical abnormalities were subtle, such that plasma very-long-chain fatty acids initially failed to provide a diagnosis. This case suggests next-generation sequencing may be diagnostic in some atypical peroxisomal biogenesis disorders...
December 1, 2015: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/24770636/dopamine-dynamics-and-signaling-in-drosophila-an-overview-of-genes-drugs-and-behavioral-paradigms
#3
REVIEW
Shinya Yamamoto, Elaine S Seto
Changes in dopamine (DA) signaling have been implicated in a number of human neurologic and psychiatric disorders. Similarly, defects in DA signaling in the fruit fly, Drosophila melanogaster, have also been associated with several behavioral defects. As most genes involved in DA synthesis, transport, secretion, and signaling are conserved between species, Drosophila is a powerful genetic model organism to study the regulation of DA signaling in vivo. In this review, we will provide an overview of the genes and drugs that regulate DA biology in Drosophila...
2014: Experimental Animals
https://www.readbyqxmd.com/read/24632715/gene-expression-signatures-delineate-biological-and-prognostic-subgroups-in-peripheral-t-cell-lymphoma
#4
Javeed Iqbal, George Wright, Chao Wang, Andreas Rosenwald, Randy D Gascoyne, Dennis D Weisenburger, Timothy C Greiner, Lynette Smith, Shuangping Guo, Ryan A Wilcox, Bin Tean Teh, Soon Thye Lim, Soon Yong Tan, Lisa M Rimsza, Elaine S Jaffe, Elias Campo, Antonio Martinez, Jan Delabie, Rita M Braziel, James R Cook, Raymond R Tubbs, German Ott, Eva Geissinger, Philippe Gaulard, Pier Paolo Piccaluga, Stefano A Pileri, Wing Y Au, Shigeo Nakamura, Masao Seto, Francoise Berger, Laurence de Leval, Joseph M Connors, James Armitage, Julie Vose, Wing C Chan, Louis M Staudt
Peripheral T-cell lymphoma (PTCL) encompasses a heterogeneous group of neoplasms with generally poor clinical outcome. Currently 50% of PTCL cases are not classifiable: PTCL-not otherwise specified (NOS). Gene-expression profiles on 372 PTCL cases were analyzed and robust molecular classifiers and oncogenic pathways that reflect the pathobiology of tumor cells and their microenvironment were identified for major PTCL-entities, including 114 angioimmunoblastic T-cell lymphoma (AITL), 31 anaplastic lymphoma kinase (ALK)-positive and 48 ALK-negative anaplastic large cell lymphoma, 14 adult T-cell leukemia/lymphoma and 44 extranodal NK/T-cell lymphoma that were further separated into NK-cell and gdT-cell lymphomas...
May 8, 2014: Blood
https://www.readbyqxmd.com/read/23823209/point-prevalence-survey-of-antimicrobial-utilization-in-the-cardiac-and-pediatric-critical-care-unit
#5
Ekaterina Blinova, Elaine Lau, Ari Bitnun, Peter Cox, Steven Schwartz, Eshetu Atenafu, Yvonne Yau, Laurie Streitenberger, Christopher S Parshuram, John Marshall, Winnie Seto
OBJECTIVES: To determine the rate of documented infections and prevalence of antimicrobial use among pediatric patients admitted to the PICU. To assess the appropriateness of antimicrobial prescribing according to clinical and microbiological findings, Infectious Disease Consult recommendations, and formulary guidelines. DESIGN: Prospective point prevalence study. SETTING: Cardiac and medical-surgical critical care units (CCCU-PICU) in a tertiary care pediatric teaching hospital in Toronto, Canada...
July 2013: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/19096301/using-whole-genome-amplification-wga-of-low-volume-biopsies-to-assess-the-prognostic-role-of-egfr-kras-p53-and-cmet-mutations-in-advanced-stage-non-small-cell-lung-cancer-nsclc
#6
Elaine H Lim, Shen-Li Zhang, Jia-Liang Li, Wee-See Yap, Tse-Chiang Howe, Bien-Peng Tan, Yong-Shyan Lee, Daniel Wong, Kay-Leong Khoo, Kar-Yin Seto, Lenny Tan, Thirugananam Agasthian, Heng-Nung Koong, John Tam, Christie Tan, Michael Caleb, Alex Chang, Alan Ng, Patrick Tan
BACKGROUND: Progression of non-small cell lung cancer (NSCLC) from early- to late-stage may signify the accumulation of gene mutations. An advanced-stage tumor's mutation profile may also have prognostic value, guiding treatment decisions. Mutation detection of multiple genes is limited by the low amount of deoxyribonucleic acid extracted from low-volume diagnostic lung biopsies. We explored whole genome amplification (WGA) to enable multiple molecular analyses. METHODS: Eighty-eight advanced-stage NSCLC patients were enrolled...
January 2009: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/17473653/an-alternative-approach-to-determining-therapeutic-choices-in-advanced-non-small-cell-lung-carcinoma-nsclc-maximizing-the-diagnostic-procedure-and-the-use-of-low-volume-lung-biopsies
#7
Elaine H Lim, Shen-Li Zhang, Kun Yu, Min-En Nga, Dokeu A Ahmed, Thirugananam Agasthian, Poo-Sing Wong, Gim-Chuah Chua, Daniel Wong, Lenny Tan, Kar-Yin Seto, Wee-See Yap, Seow-Ping Low, Kay-Leong Khoo, Alex Chang, Alan Ng, Patrick Tan
BACKGROUND: Accurate mutational analysis, especially epidermal growth factor receptor (EGFR) mutations, of diagnostic biopsies from all Asian NSCLC patients is crucial to their clinical management, but faces problems. Here, we explore, within usual hospital constraints, the practicalities of incorporating mutational analysis in every newly diagnosed case of NSCLC, namely, maximizing tissue acquisition during the diagnostic procedure and determining the maximum quantity and quality of DNA sequence data available from these biopsies...
May 2007: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/16606693/internalization-is-required-for-proper-wingless-signaling-in-drosophila-melanogaster
#8
Elaine S Seto, Hugo J Bellen
The Wnt-Wingless (Wg) pathway regulates development through precisely controlled signaling. In this study, we show that intracellular trafficking regulates Wg signaling levels. In Drosophila melanogaster cells stimulated with Wg media, dynamin or Rab5 knockdown causes reduced Super8XTOPflash activity, suggesting that internalization and endosomal transport facilitate Wg signaling. In the wing, impaired dynamin function reduces Wg transcription. However, when Wg production is unaffected, extracellular Wg levels are increased...
April 10, 2006: Journal of Cell Biology
https://www.readbyqxmd.com/read/12050111/when-cell-biology-meets-development-endocytic-regulation-of-signaling-pathways
#9
REVIEW
Elaine S Seto, Hugo J Bellen, Thomas E Lloyd
No abstract text is available yet for this article.
June 1, 2002: Genes & Development
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