Search Results - "Dunn, Kyla E."

Why Ancestral Diversity in Genetic Testing Matters: Lessons Learned From Hypertrophic Cardiomyopathy by Dunn, Kyla E

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families by Guimier, Anne, Achleitner, Melanie T., Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E., Grove, Megan E., Tysoe, Carolyn J., Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L., Knowles, Charlotte V., Brett, Laura, Till, Jan A., Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A., Lichkus, Kate S., Sankaran, Bindu P., Kennedy, Hannah L., George, Peter M., Kidd, Alexa, Wortmann, Saskia B., Fisk, Dianna G., Koopmann, Tamara T., Rafiq, Muhammad A., Merker, Jason D., Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G., Ma, Alan S., Turner, Christian, Ellaway, Carolyn J., Phillips, Liza K., Thorburn, David R., Chung, Wendy K., Kana, Sajel L., Faye-Petersen, Ona M., Thompson, Michelle L., Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M., Morris-Rosendahl, Deborah J., Hurst, Anna C. E., Turner, Claire L. S., Hamilton, Robert M., Taylor, Robert W., Bajolle, Fanny, Gordon, Christopher T., Amiel, Jeanne, Mayr, Johannes A., Doudney, Kit

“…Purpose Biallelic hypomorphic variants in PPA2 , encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals…”
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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families by Guimier, Anne, Achleitner, Melanie T., Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E., Grove, Megan E., Tysoe, Carolyn J., Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L., Knowles, Charlotte V., Brett, Laura, Till, Jan A., Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A., Lichkus, Kate S., Sankaran, Bindu P., Kennedy, Hannah L., George, Peter M., Kidd, Alexa, Wortmann, Saskia B., Fisk, Dianna G., Koopmann, Tamara T., Rafiq, Muhammad A., Merker, Jason D., Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G., Ma, Alan S., Turner, Christian, Ellaway, Carolyn J., Phillips, Liza K., Thorburn, David R., Chung, Wendy K., Kana, Sajel L., Faye-Petersen, Ona M., Thompson, Michelle L., Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M., Morris-Rosendahl, Deborah J., Hurst, Anna C.E., Turner, Claire L.S., Hamilton, Robert M., Taylor, Robert W., Bajolle, Fanny, Gordon, Christopher T., Amiel, Jeanne, Mayr, Johannes A., Doudney, Kit

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Cardiac Structural and Sarcomere Genes Associated With Cardiomyopathy Exhibit Marked Intolerance of Genetic Variation by Pan, Stephen, Caleshu, Colleen A, Dunn, Kyla E, Foti, Marcia J, Moran, Maura K, Soyinka, Oretunlewa, Ashley, Euan A

“…BACKGROUND—The clinical significance of variants in genes associated with inherited cardiomyopathies can be difficult to determine because of uncertainty…”
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Arrhythmogenic Right Ventricular Cardiomyopathy: Toward a Modern Clinical and Genomic Understanding by Dunn, Kyla E, Ashley, Euan A

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A Clinical Approach to Inherited Hypertrophy: The Use of Family History in Diagnosis, Risk Assessment, and Management by Dunn, Kyla E, Caleshu, Colleen, Cirino, Allison L, Ho, Carolyn Y, Ashley, Euan A

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Functional Mapping of the Surface Residues of Human Thrombin () by Tsiang, Manuel, Jain, Anant K., Dunn, Kyla E., Rojas, Maria E., Leung, Lawrence L.K., Gibbs, Craig S.

“…Utilizing site-directed mutagenesis, 77 charged and polar residues that are highly exposed on the surface of human thrombin were systematically substituted…”
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A Nickel Chelate Microtiter Plate Assay for Six Histidine-Containing Proteins by Paborsky, Lisa R., Dunn, Kyla E., Gibbs, Craig S., Dougherty, Joseph P.

“…Protein purification has been made significantly easier by the use of affinity tags that can be genetically engineered at either the amino- or…”
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Selection of a Suppressor Mutation That Restores Affinity of an Oligonucleotide Inhibitor for Thrombin Using in Vitro Genetics by Tsiang, M, Gibbs, C S, Griffin, L C, Dunn, K E, Leung, L L

“…The thrombin aptamer is a single-stranded DNA of 15 nucleotides that was identified by the selection of thrombin-binding molecules from a large combinatorial…”
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Abstract 19717: Cardiac Structural and Sarcomere Genes Associated with Cardiomyopathy Exhibit Marked Intolerance of Genetic Variation by Pan, Stephen, Caleshu, Colleen A, Dunn, Kyla E, Foti, Marcia J, Moran, Maura, Soyinka, Oretunlewa, Ashley, Euan A

“…Abstract only Background - The clinical significance of variants in genes associated with inherited cardiomyopathies can be hard to determine as a result of…”
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