Search Results - "Edwards, Nathan C."

Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches by Edwards, Nathan C, Hing, Zachary A, Perry, Avital, Blaisdell, Adam, Kopelman, David B, Fathke, Robert, Plum, William, Newell, Jordan, Allen, Courtni E, S, Geetha, Shapiro, Aaron, Okunji, Chinyere, Kosti, Idit, Shomron, Noam, Grigoryan, Vahan, Przytycka, Teresa M, Sauna, Zuben E, Salari, Raheleh, Mandel-Gutfreund, Yael, Komar, Anton A, Kimchi-Sarfaty, Chava

“…Synonymous variations, which are defined as codon substitutions that do not change the encoded amino acid, were previously thought to have no effect on the…”
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Single‐nucleotide variations defining previously unreported ADAMTS13 haplotypes are associated with differential expression and activity of the VWF‐cleaving protease in a Salvadoran congenital thrombotic thrombocytopenic purpura family by Kim, Benjamin, Hing, Zachary A., Wu, Andrew, Schiller, Tal, Struble, Evi B., Liuwantara, David, Kempert, Pamela H., Broxham, Eric J., Edwards, Nathan C., Marder, Victor J., Simhadri, Vijaya L., Sauna, Zuben E., Howard, Tom E., Kimchi‐Sarfaty, Chava

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Single-Nucleotide Variations Defining Previously Unreported ADAMTS13 Haplotypes Are Associated With Differential Expression and Activity Of The VWF-Cleaving Protease In a Salvadoran Congenital Thrombotic Thrombocytopenic Purpura Family by Kim, Benjamin, Hing, Zachary A., Wu, Andrew, Schiller, Tal, Struble, Evi B., Liuwantara, David, Kempert, Pamela H., Broxham, Eric J., Edwards, Nathan C., Marder, Victor J., Simhadri, Vijaya L., Sauna, Zuben E., Howard, Tom E., Kimchi-Sarfaty, Chava

“…Although autosomal recessive hematologic disorders are individually rare and difficult to ascertain, studies involving one or more homozygous affected children…”
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Single and Codon-Optimized Synonymous Mutations in Factor IX Alter Protein Properties by Tseng, Sandra C., Katagiri, Nobuko H., Simhadri, Vijaya L., Jha, Sujata, Edwards, Nathan C., Kopelman, David B., Sauna, Zuben E., Stern, Michael Z., Zichel, Ran, Komar, Anton A., Kimchi-Sarfaty, Chava

“…Abstract 1185▪▪This icon denotes a clinically relevant abstract Synonymous mutations, previously called ‘silent' mutations, are now widely acknowledged to be…”
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Single-nucleotide variations defining previously unreported ADAMTS13 haplotypes are associated with differential expression and activity of the VWF-cleaving protease in a Salvadoran congenital thrombotic thrombocytopenic purpura family by Kim, Benjamin, Hing, Zachary A, Wu, Andrew, Schiller, Tal, Struble, Evi B, Liuwantara, David, Kempert, Pamela H, Broxham, Eric J, Edwards, Nathan C, Marder, Victor J, Simhadri, Vijaya L, Sauna, Zuben E, Howard, Tom E, Kimchi-Sarfaty, Chava

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