Search Results - "Keddache, Mehdi"

Identification of SARS-CoV-2 variants using viral sequencing for the Centers for Disease Control and Prevention genomic surveillance program by Goswami, Chirayu, Sheldon, Michael, Bixby, Christian, Keddache, Mehdi, Bogdanowicz, Alexander, Wang, Yihe, Schultz, Jonathan, McDevitt, Jessica, LaPorta, James, Kwon, Elaine, Buyske, Steven, Garbolino, Dana, Biloholowski, Glenys, Pastuszak, Alex, Storella, Mary, Bhalla, Amit, Charlier-Rodriguez, Florence, Hager, Russ, Grimwood, Robin, Nahas, Shareef A

“…The Centers for Disease Control and Prevention contracted with laboratories to sequence the SARS-CoV-2 genome from positive samples across the United States to…”
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Fucosyltransferase 2 Non-Secretor and Low Secretor Status Predicts Severe Outcomes in Premature Infants by Morrow, Ardythe L., PhD, Meinzen-Derr, Jareen, PhD, Huang, Pengwei, MD, Schibler, Kurt R., MD, Cahill, Tanya, MD, Keddache, Mehdi, MS, Kallapur, Suhas G., MD, Newburg, David S., PhD, Tabangin, Meredith, MPH, Warner, Barbara B., MD, Jiang, Xi, PhD

“…Objective To investigate secretor gene fucosyltransferase 2 ( FUT2 ) polymorphism and secretor phenotype in relation to outcomes of prematurity. Study design…”
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Integrated Genomic Analysis of Diverse Induced Pluripotent Stem Cells from the Progenitor Cell Biology Consortium by Salomonis, Nathan, Dexheimer, Phillip J., Omberg, Larsson, Schroll, Robin, Bush, Stacy, Huo, Jeffrey, Schriml, Lynn, Ho Sui, Shannan, Keddache, Mehdi, Mayhew, Christopher, Shanmukhappa, Shiva Kumar, Wells, James, Daily, Kenneth, Hubler, Shane, Wang, Yuliang, Zambidis, Elias, Margolin, Adam, Hide, Winston, Hatzopoulos, Antonis K., Malik, Punam, Cancelas, Jose A., Aronow, Bruce J., Lutzko, Carolyn

“…The rigorous characterization of distinct induced pluripotent stem cells (iPSC) derived from multiple reprogramming technologies, somatic sources, and donors…”
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Foamy Virus Vector Carries a Strong Insulator in Its Long Terminal Repeat Which Reduces Its Genotoxic Potential by Goodman, Michael Aaron, Arumugam, Paritha, Pillis, Devin Marie, Loberg, Anastacia, Nasimuzzaman, Mohammed, Lynn, Danielle, van der Loo, Johannes Christiaan Maria, Dexheimer, Phillip Joseph, Keddache, Mehdi, Bauer, Jr, Thomas Roy, Hickstein, Dennis Durand, Russell, David William, Malik, Punam

“…Strong viral enhancers in gammaretrovirus vectors have caused cellular proto-oncogene activation and leukemia, necessitating the use of cellular promoters in…”
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Genetically driven target tissue overexpression of CD40: a novel mechanism in autoimmune disease by Huber, Amanda K, Finkelman, Fred D, Li, Cheuk Wun, Concepcion, Erlinda, Smith, Eric, Jacobson, Eric, Latif, Rauf, Keddache, Mehdi, Zhang, Weijia, Tomer, Yaron

“…The CD40 gene, an important immune regulatory gene, is also expressed and functional on nonmyeloid-derived cells, many of which are targets for tissue-specific…”
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Serotonin 2c receptor RNA editing in major depression and suicide by Lyddon, Rebecca, Dwork, Andrew J., Keddache, Mehdi, Siever, Larry J., Dracheva, Stella

“…Abstract Objectives. mRNA for serotonin 2C receptor (5-HT2CR) undergoes editing which results in numerous isoforms. More highly edited isoforms exhibit…”
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Dissecting the Genetic Susceptibility to Graves' Disease in a Cohort of Patients of Italian Origin by Lombardi, Angela, Menconi, Francesca, Greenberg, David, Concepcion, Erlinda, Leo, Marenza, Rocchi, Roberto, Marinó, Michele, Keddache, Mehdi, Tomer, Yaron

“…Graves' disease (GD) is an autoimmune oligogenic disorder with a strong hereditary component. Several GD susceptibility genes have been identified and…”
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MicroRNA activation signature in patients with hemophagocytic lymphohistiocytosis and reversibility with disease-specific therapy by Sumegi, Janos, MD, PhD, Nestheide, Shawnagay, BS, Aronow, Bruce, PhD, Fletcher, David, BS, Keddache, Mehdi, PhD, Villanueva, Joyce, BS, Zhang, Kejian, MD, Filipovich, Alexandra H., MD

“…Note that antigen-presenting cells, CD8+ T cells, natural killer (NK) cells, γδ T cells, and myeloid cells express many of the miRNA targets shown as red…”
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Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss by Sivakumaran, Theru A., Husami, Ammar, Kissell, Diane, Zhang, Wenying, Keddache, Mehdi, Black, Angela P., Tinkle, Brad T., Greinwald, John H., Zhang, Kejian

“…Objective To evaluate the performance of a next-generation sequencing (NGS)–based targeted resequencing genetic test, OtoSeq, to identify the sequence variants…”
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Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase by Dasgupta, Nupur, Xu, You-Hai, Oh, Sunghee, Sun, Ying, Jia, Li, Keddache, Mehdi, Grabowski, Gregory A

“…Gaucher disease type 1, an inherited lysosomal storage disorder, is caused by mutations in GBA1 leading to defective glucocerebrosidase (GCase) function and…”
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Lampe1: an ENU-germline mutation causing spontaneous hepatosteatosis identified through targeted exon-enrichment and next-generation sequencing by Sheridan, Rachel, Lampe, Kristin, Shanmukhappa, Shiva Kumar, Putnam, Patrick, Keddache, Mehdi, Divanovic, Senad, Bezerra, Jorge, Hoebe, Kasper

“…Using a small scale ENU mutagenesis approach we identified a recessive germline mutant, designated Lampe1 that exhibited growth retardation and spontaneous…”
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From single-SNP to wide-locus: genome-wide association studies identifying functionally related genes and intragenic regions in small sample studies by Wittkowski, Knut M, Sonakya, Vikas, Song, Tingting, Seybold, Martin P, Keddache, Mehdi, Durner, Martina

“…Genome-wide association studies (GWAS) have had limited success when applied to complex diseases. Analyzing SNPs individually requires several large studies to…”
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Multiple interactions between the alpha2C- and beta1-adrenergic receptors influence heart failure survival by Kardia, Sharon LR, Kelly, Reagan J, Keddache, Mehdi A, Aronow, Bruce J, Grabowski, Gregory A, Hahn, Harvey S, Case, Karen L, Wagoner, Lynne E, Dorn, Gerald W, Liggett, Stephen B

“…BACKGROUND: Persistent stimulation of cardiac β1-adrenergic receptors by endogenous norepinephrine promotes heart failure progression. Polymorphisms of this…”
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Genome scan of idiopathic generalized epilepsy: Evidence for major susceptibility gene and modifying genes influencing the seizure type by Durner, Martina, Keddache, Mehdi A., Tomasini, Livia, Shinnar, Shlomo, Resor, Stanley R., Cohen, Jeffrey, Harden, Cynthia, Moshe, Solomon L., Rosenbaum, David, Kang, Harriet, Ballaban-Gil, Karen, Hertz, Sharon, Labar, Douglas R., Luciano, Daniel, Wallace, Sibylle, Yohai, David, Klotz, Irene, Dicker, Elisa, Greenberg, David A.

“…Idiopathic generalized epilepsy (IGE) is a common, complex disease with an almost exclusively genetic etiology but with variable phenotypes. Clinically, IGE…”
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401 Distribution and Significance of EZH2 Mutations in MDS and Related Myeloid Malignancies by Makishima, Hideki, Jankowska, Anna, Szpurka, Hadrian, List, Alan, McDevitt, Michael, Guinta, Kathryn, Keddache, Mehdi A, O'Keefe, Christine, Sekeres, Mikkael A, Maciejewski, Jaroslaw

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Targeted Capture and Massively Parallel Sequencing in Pediatric Cardiomyopathy: Development of Novel Diagnostics by Tariq, Muhammad, Le, Thanh-Tam, Putnam, Patrick, Kindel, Steven, Keddache, Mehdi, Ware, Stephanie M.

“…Pediatric cardiomyopathy is a genetically heterogeneous disease associated with significant morbidity. Although identification of underlying etiology is…”
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Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy by Glauser, Tracy A., Holland, Katherine, O’Brien, Valerie P., Keddache, Mehdi, Martin, Lisa J., Clark, Peggy O., Cnaan, Avital, Dlugos, Dennis, Hirtz, Deborah G., Shinnar, Shlomo, Grabowski, Gregory

“…Objective To determine whether common polymorphisms in CACNA1G, CACNA1H, CACNA1I, and ABCB1 are associated with differential short‐term seizure outcome in…”
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NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation by Yu, Yanan, Choi, Kwangmin, Wu, Jianqiang, Andreassen, Paul R., Dexheimer, Phillip J., Keddache, Mehdi, Brems, Hilde, Spinner, Robert J., Cancelas, Jose A., Martin, Lisa J., Wallace, Margaret R., Legius, Eric, Vogel, Kristine S., Ratner, Nancy

“…In Neurofibromatosis type 1, NF1 gene mutations in Schwann cells (SC) drive benign plexiform neurofibroma (PNF), and no additional SC changes explain…”
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Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model by Dasgupta, Nupur, Xu, You-Hai, Li, Ronghua, Peng, Yanyan, Pandey, Manoj K, Tinch, Stuart L, Liou, Benjamin, Inskeep, Venette, Zhang, Wujuan, Setchell, Kenneth D R, Keddache, Mehdi, Grabowski, Gregory A, Sun, Ying

“…Defective lysosomal acid β-glucosidase (GCase) in Gaucher disease causes accumulation of glucosylceramide (GC) and glucosylsphingosine (GS) that distress…”
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Fine Mapping of Loci Linked to Autoimmune Thyroid Disease Identifies Novel Susceptibility Genes by Tomer, Yaron, Hasham, Alia, Davies, Terry F, Stefan, Mihaela, Concepcion, Erlinda, Keddache, Mehdi, Greenberg, David A

“…Context: Genetic factors play a major role in the etiology of autoimmune thyroid disease (AITD) including Graves' disease (GD) and Hashimoto's thyroiditis…”
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