Search Results - "Johnson, Monique A"

Does KRAS testing in metastatic colorectal cancer impact overall survival? A comparative effectiveness study in a population-based sample by Feigelson, Heather Spencer, Zeng, Chan, Pawloski, Pamala A, Onitilo, Adedayo A, Richards, C Sue, Johnson, Monique A, Kauffman, Tia L, Webster, Jennifer, Nyirenda, Carsie, Alexander, Gwen L, Hwang, Clara, Cross, Deanna, McCarty, Catherine A, Davis, Robert L, Schwarzkopf, Denise, Williams, Andrew E, Honda, Stacey, Daida, Yihe, Kushi, Lawrence H, Delate, Thomas, Goddard, Katrina A B

“…Epidermal growth factor receptor (EGFR) inhibitors are approved for treating metastatic colorectal cancer (CRC); KRAS mutation testing is recommended prior to…”
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Prevalence and Distribution of the c.1436C→T Sequence Variant of Carnitine Palmitoyltransferase 1A among Alaska Native Infants by Gessner, Bradford D., MD, Gillingham, Melanie B., PhD, Johnson, Monique A., PhD, Richards, C. Sue, PhD, Lambert, William E., PhD, Sesser, David, BA, Rien, Leanne C., RN, Hermerath, Cheryl A., MBA, Skeels, Michael R., PhD, Birch, Stephanie, MPH, Harding, Cary O., MD, Wood, Thalia, MPH, Koeller, David M., MD

“…Objectives To use genotype analysis to determine the prevalence of the c.1436C→T sequence variant in carnitine palmitoyltransferase 1A (CPT1A) among Alaskan…”
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Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A by Gessner, Bradford D., Wood, Thalia, Johnson, Monique A., Richards, Carolyn Sue, Koeller, David M.

“…Purpose: Infant mortality in Alaska is highest among Alaska Native people from western/northern Alaska, a population with a high prevalence of a genetic…”
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Reliability of KRAS mutation testing in metastatic colorectal cancer patients across five laboratories by Feigelson, Heather Spencer, Goddard, Katrina A B, Johnson, Monique A, Funk, Kellyan C, Rahm, Alanna Kulchak, Kauffman, Tia L, Chitale, Dhananjay A, Le Marchand, Loic, Richards, C Sue

“…Mutations in the KRAS gene are associated with poor response to epidermal growth factor receptor inhibitors used in the treatment of metastatic colorectal…”
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Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome by Hayflick, Susan J, Westaway, Shawn K, Levinson, Barbara, Zhou, Bing, Johnson, Monique A, Ching, Katherine H.L, Gitschier, Jane

“…Hallervorden–Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and brain iron accumulation. The authors found that all…”
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Mitochondrial Localization of Human PANK2 and Hypotheses of Secondary Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration by JOHNSON, MONIQUE A., KUO, YIEN MING, WESTAWAY, SHAWN K., PARKER, SUSAN M., CHING, KATHERINE H. L., GITSCHIER, JANE, HAYFLICK, SUSAN J.

“…: Mutations in the pantothenate kinase 2 gene (PANK2) lead to pantothenate kinase‐associated neurodegeneration (PKAN, formerly Hallervorden‐Spatz syndrome)…”
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A novel pantothenate kinase gene ( PANK2 ) is defective in Hallervorden-Spatz syndrome by Hayflick, Susan J, Zhou, Bing, Westaway, Shawn K, Levinson, Barbara, Johnson, Monique A, Gitschier, Jane

“…Hallervorden-Spatz syndrome (HSS) is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features…”
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Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel by Kalman, Lisa, Leonard, Jay, Gerry, Norman, Tarleton, Jack, Bridges, Christina, Gastier-Foster, Julie M, Pyatt, Robert E, Stonerock, Eileen, Johnson, Monique A, Richards, C Sue, Schrijver, Iris, Ma, Tianhui, Miller, Vanessa Rangel, Adadevoh, Yetsa, Furlong, Pat, Beiswanger, Christine, Toji, Lorraine

“…Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic X-linked recessive disorders that affect approximately 1 in 3500 and 1 in 20,000 male…”
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Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study by Amos Wilson, Jean, Pratt, Victoria M, Phansalkar, Amit, Muralidharan, Kasinathan, Highsmith, W. Edward, Beck, Jeanne C, Bridgeman, Scott, Courtney, Ebony M, Epp, Lidia, Ferreira-Gonzalez, Andrea, Hjelm, Nick L, Holtegaard, Leonard M, Jama, Mohamed A, Jakupciak, John P, Johnson, Monique A, Labrousse, Paul, Lyon, Elaine, Prior, Thomas W, Richards, C. Sue, Richie, Kristy L, Roa, Benjamin B, Rohlfs, Elizabeth M, Sellers, Tina, Sherman, Stephanie L, Siegrist, Karen A, Silverman, Lawrence M, Wiszniewska, Joanna, Kalman, Lisa V

“…Fragile X syndrome, which is caused by expansion of a (CGG)n repeat in the FMR1 gene, occurs in approximately 1:3500 males and causes mental…”
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Validation of Fanconi anemia complementation Group A assignment using molecular analysis by Moghrabi, Nabil N, Johnson, Monique A, Yoshitomi, Marvin J, Zhu, Xiaoman, Al-Dhalimy, Muhsen J, Olson, Susan B, Grompe, Markus, Richards, C Sue

“…Purpose: Fanconi anemia is a genetically heterogeneous chromosomal breakage disorder exhibiting a high degree of clinical variability. Clinical diagnoses are…”
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A Comparative Study of Five Technologically Diverse CFTR Testing Platforms by Johnson, Monique A, Yoshitomi, Marvin J, Richards, C. Sue

“…Multiple cystic fibrosis (CF) testing platforms, using diverse and rapidly evolving technologies, are available to clinical laboratories commercially or for…”
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New selectable marker/auxotrophic host strain combinations for molecular genetic manipulation of Pichia pastoris by Lin Cereghino, G P, Lin Cereghino, J, Sunga, A J, Johnson, M A, Lim, M, Gleeson, M A, Cregg, J M

“…We describe the isolation and characterization of three new biosynthetic genes-ARG4, ADE1, and URA3-from the methylotrophic yeast Pichia pastoris. The…”
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Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing by Kalman, Lisa, Leonard, Jay, Gerry, Norman, Tarleton, Jack, Bridges, Christina, Gastier-Foster, Julie M, Pyatt, Robert E, Stonerock, Eileen, Johnson, Monique A, Richards, C. Sue, Schrijver, Iris, Ma, Tianhui, Miller, Vanessa Rangel, Adadevoh, Yetsa, Furlong, Pat, Beiswanger, Christine, Toji, Lorraine

“…Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic X-linked recessive disorders that affect approximately 1 in 3500 and 1 in 20,000 male…”
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Development of genomic reference materials for Huntington disease genetic testing by Kalman, Lisa, Johnson, Monique A, Beck, Jeanne, Berry-Kravis, Elizabeth, Buller, Arlene, Casey, Brett, Feldman, Gerald L, Handsfield, James, Jakupciak, John P, Maragh, Samantha, Matteson, Karla, Muralidharan, Kasinathan, Richie, Kristy L, Rohlfs, Elizabeth M, Schaefer, Frederick, Sellers, Tina, Spector, Elaine, Richards, C Sue

“…Diagnostic and predictive testing for Huntington disease requires an accurate measurement of CAG repeats in the HD (IT15) gene. However, precise repeat sizing…”
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Pex17p is required for import of both peroxisome membrane and lumenal proteins and interacts with Pex19p and the peroxisome targeting signal-receptor docking complex in Pichia pastoris by Snyder, W B, Koller, A, Choy, A J, Johnson, M A, Cregg, J M, Rangell, L, Keller, G A, Subramani, S

“…Pichia pastoris PEX17 was cloned by complementation of a peroxisome-deficient strain obtained from a novel screen for mutants disrupted in the localization of…”
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Positive selection of novel peroxisome biogenesis-defective mutants of the yeast Pichia pastoris by Johnson, M.A. (Oregon Graduate Institute of Science and Technology, Portland, OR.), Waterham, H.R, Ksheminska, G.P, Fayura, L.R, Cereghino, J.L, Stasyk, O.V, Veenhuis, M, Kulachkovsky, A.R, Sibirny, A.A, Cregg, J.M

“…We have developed two novel schemes for the direct selection of peroxisome-biogenesis-defective (pex) mutants of the methylotrophic yeast Pichia pastoris. Both…”
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Pichia pastoris Pex14p, a phosphorylated peroxisomal membrane protein, is part of a PTS–receptor docking complex and interacts with many peroxins by Johnson, Monique A., Snyder, William B., Lin Cereghino, Joan, Veenhuis, Marten, Subramani, Suresh, Cregg, James M.

“…The peroxisomal protein import machinery plays a central role in the assembly of this organelle in all eukaryotes. Genes encoding components of this machinery,…”
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