Search Results - "Dickson, Alexa"

Strategies for viral RNA stability: live long and prosper by Dickson, Alexa M, Wilusz, Jeffrey

“…Eukaryotic cells have a powerful RNA decay machinery that plays an important and diverse role in regulating both the quantity and the quality of gene…”
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Sindbis virus usurps the cellular HuR protein to stabilize its transcripts and promote productive infections in mammalian and mosquito cells by Sokoloski, Kevin J, Dickson, Alexa M, Chaskey, Emily L, Garneau, Nicole L, Wilusz, Carol J, Wilusz, Jeffrey

“…How viral transcripts are protected from the cellular RNA decay machinery and the importance of this protection for the virus are largely unknown. We…”
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Dephosphorylation of HuR Protein during Alphavirus Infection Is Associated with HuR Relocalization to the Cytoplasm by Dickson, Alexa M., Anderson, John R., Barnhart, Michael D., Sokoloski, Kevin J., Oko, Lauren, Opyrchal, Mateusz, Galanis, Evanthia, Wilusz, Carol J., Morrison, Thomas E., Wilusz, Jeffrey

“…We have demonstrated previously that the cellular HuR protein binds U-rich elements in the 3′ untranslated region (UTR) of Sindbis virus RNA and relocalizes…”
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CELFish ways to modulate mRNA decay by Vlasova-St. Louis, Irina, Dickson, Alexa M., Bohjanen, Paul R., Wilusz, Carol J.

“…The CELF family of RNA-binding proteins regulates many steps of mRNA metabolism. Although their best characterized function is in pre-mRNA splice site choice,…”
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Polyadenylation: alternative lifestyles of the A-rich (and famous?) by Dickson, Alexa M, Wilusz, Jeffrey

“…EMBO J 29 9, 1523-1536 (2010); published online 25 March 2010Alternative polyadenylation has a major function in gene expression and is often mediated through…”
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P468: A comparative analysis of TEK variants in patients with vascular anomalies by Ghasemi, Reza, Corliss, Meagan, Krysiak, Kilannin, Parikh, Bijal, Dickson, Alexa, Bowling, Kevin, Schroeder, Molly, Heusel, Jonathan, Neidich, Julie, Cao, Yang

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P687: Variant classification discrepancies in the ACADVL gene by Dickson, Alexa, Flowers, May, Miller, Marcus, Spector, Elaine, Enns, Gregory, Baudet, Heather, Pasquali, Marzia, Racacho, Lemuel, Sadre-Bazzaz, Kianoush, Wen, Ting, Fogarty, Melissa, Fernandez, Raquel, Weaver, Meredith, Feigenbaum, Annette, Graham, Brett, Mao, Rong

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P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1 by Mohan, Shruthi, De Biase, Irene, Yuzyuk, Tatiana, Dickson, Alexa, Pramparo, Tiziano, Francis, Stephanie, Weaver, Meredith, Fernandez, Raquel, Suchy, Sharon, Moser, Ann, Mao, Rong, Braverman, Nancy

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P430: Application of ACMG/AMP variant classification guidelines to Alzheimer’s disease-associated genetic variation by Dickson, Alexa, Corliss, Meagan, Heusel, Jonathan, Ziegemeier, Ellen, Llibre-Guerra, Jorge, Goate, Alison, Cruchaga, Carlos, Renton, Alan, Karch, Celeste, Hernandez, Victoria Fernandez, Day, Gregory, Courtney, Laura, McDade, Eric, Bateman, Randall, Bowling, Kevin

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Stimulating Full-Length SMN2 Expression by Delivering Bifunctional RNAs via a Viral Vector by Baughan, Travis, Shababi, Monir, Coady, Tristan H, Dickson, Alexa M, Tullis, Gregory E, Lorson, Christian L

“…Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is the leading genetic cause of infant mortality. SMA is caused by the loss…”
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Repeat expansion diseases: when a good RNA turns bad by Dickson, Alexa M., Wilusz, Carol J.

“…An increasing number of dominantly inherited diseases have now been linked with expansion of short repeats within specific genes. Although some of these…”
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Identification and characterisation of a nuclear localisation signal in the SMN associated protein, Gemin4 by Lorson, Monique A., Dickson, Alexa M., Shaw, Debra J., Todd, Adrian G., Young, Elizabeth C., Morse, Robert, Wolstencroft, Catherine, Lorson, Christian L., Young, Philip J.

“…Gemin4 is a ubiquitously expressed multifunctional protein that is involved in U snRNP assembly, apoptosis, nuclear/cytoplasmic transportation, transcription,…”
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eP342: Clinical testing of SHOX gene for SHOX deficiency disorders by Dickson, Alexa, Francis, Stephanie, Jama, Mohamed, Ji, Yuan

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43. Challenges of classifying variants associated with disorders of somatic mosaicism and guideline creation by Dickson, Alexa, Bowling, Kevin, Zazueta, Fernando, Cao, Yang

“…Disorders of somatic mosaicism (DoSM) constitute rare genetic disorders characterized by post-zygotic events leading to segmental distribution of disease. The…”
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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation: Molecular Genetics and Metabolism by Flowers, May, Dickson, Alexa, Miller, Marcus J., Spector, Elaine, Enns, Gregory Mark, Baudet, Heather, Pasquali, Marzia, Racacho, Lemuel, Sadre-Bazzaz, Kianoush, Wen, Ting, Fogarty, Melissa, Fernandez, Raquel, Weaver, Meredith A., Feigenbaum, Annette, Graham, Brett H., Mao, Rong

“…Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is a relatively common inborn error of metabolism, but due to difficulty in accurately…”
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Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience by Groopman, Emily, Goldstein, Jenny, Dickson, Alexa, Zastrow, Diane, Mohan, Shruthi, Thomas-Wilson, Amanda, Caldovic, Ljubica, Kyle, Emily, Yuzyuk, Tatiana, De Biase, Irene, Simpson, Kara, Kanavy, Dona, Spector, Elaine, Pasquali, Marzia, Rehder, Catherine, Stergachis, Andrew, Whirl-Carlo, Michelle, Baudet, Heather, Hung, Christina, Braverman, Nancy E., Mercimek-Andrews, Saadet, Weaver, Meredith, Craigen, William, Mao, Rong

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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation by Flowers, May, Dickson, Alexa, Miller, Marcus J., Spector, Elaine, Enns, Gregory Mark, Baudet, Heather, Pasquali, Marzia, Racacho, Lemuel, Sadre-Bazzaz, Kianoush, Wen, Ting, Fogarty, Melissa, Fernandez, Raquel, Weaver, Meredith A., Feigenbaum, Annette, Graham, Brett H., Mao, Rong

“…Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is a relatively common inborn error of metabolism, but due to difficulty in accurately…”
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Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism by Leon-Quintero, Fernando Zazueta, Bowling, Kevin M, Dickson, Alexa, Corliss, Meagan M, Schroeder, Molly C, Neidich, Julie A, Heusel, Jonathan W, Krysiak, Kilannin, Polonis, Katarzyna, Parikh, Bijal A, Cao, Yang

“…Disorders of somatic mosaicism (DoSMs) are rare genetic disorders arising from postzygotic alteration leading to segmental/nonsegmental disease. Current…”
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Tailoring the ACMG/AMP sequence variant interpretation guidelines to the unique aspects of germline ACADVL variants by Flowers, May, Weaver, Meredith, Baudet, Heather, Pasquali, Marzia, Enns, Gregory, Feigenbaum, Annette, Lyon, Elaine, Miller, Marcus, Graham, Brett, Spector, Elaine, Racacho, Lemuel, McLachlan, Michael, Sadre-Bazzaz, Kianoush, Harris, Heather, Wang, Yang, Dickson, Alexa, Mao, Rong

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eP391 - Tailoring the ACMG/AMP sequence variant interpretation guidelines to the unique aspects of germline ACADVL variants by Flowers, May, Weaver, Meredith, Baudet, Heather, Pasquali, Marzia, Enns, Gregory, Feigenbaum, Annette, Lyon, Elaine, Miller, Marcus, Graham, Brett, Spector, Elaine, Racacho, Lemuel, McLachlan, Michael, Sadre-Bazzaz, Kianoush, Harris, Heather, Wang, Yang, Dickson, Alexa, Mao, Rong

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