Search Results - "Raftery, Joanna M."

Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle by Thomas, Kristen C, Zheng, Xi Fiona, Garces Suarez, Francia, Raftery, Joanna M, Quinlan, Kate G R, Yang, Nan, North, Kathryn N, Houweling, Peter J

“…The ability to obtain accurate and reproducible data using quantitative real-time Polymerase Chain Reaction (RT-qPCR) is limited by the process of data…”
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Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans by Hook, Jeff W, Seto, Jane T, Gunning, Peter W, MacArthur, Daniel G, Quinlan, Kate G, Huttley, Gavin A, Lemckert, Frances A, Hardeman, Edna C, Edwards, Michael R, Berman, Yemima, Easteal, Simon, Kee, Anthony J, North, Kathryn N, Yang, Nan, Raftery, Joanna M

“…More than a billion humans worldwide are predicted to be completely deficient in the fast skeletal muscle fiber protein α-actinin-3 owing to homozygosity for a…”
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An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance by MacArthur, Daniel G., Seto, Jane T., Chan, Stephen, Quinlan, Kate G.R., Raftery, Joanna M., Turner, Nigel, Nicholson, Megan D., Kee, Anthony J., Hardeman, Edna C., Gunning, Peter W., Cooney, Gregory J., Head, Stewart I., Yang, Nan, North, Kathryn N.

“…A common nonsense polymorphism (R577X) in the ACTN3 gene results in complete deficiency of the fast skeletal muscle fiber protein α-actinin-3 in an estimated…”
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DNA-dependent protein kinase inhibits AID-induced antibody gene conversion by Cook, Adam J L, Raftery, Joanna M, Lau, K K Edwin, Jessup, Andrew, Harris, Reuben S, Takeda, Shunichi, Jolly, Christopher J

“…Affinity maturation and class switching of antibodies requires activation-induced cytidine deaminase (AID)-dependent hypermutation of Ig V(D)J rearrangements…”
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Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling by Seto, Jane T., Lek, Monkol, Quinlan, Kate G.R., Houweling, Peter J., Zheng, Xi F., Garton, Fleur, MacArthur, Daniel G., Raftery, Joanna M., Garvey, Sean M., Hauser, Michael A., Yang, Nan, Head, Stewart I., North, Kathryn N.

“…Sarcomeric α-actinins (α-actinin-2 and -3) are a major component of the Z-disk in skeletal muscle, where they crosslink actin and other structural proteins to…”
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α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle by Quinlan, Kate G.R., Seto, Jane T., Turner, Nigel, Vandebrouck, Aurelie, Floetenmeyer, Matthias, Macarthur, Daniel G., Raftery, Joanna M., Lek, Monkol, Yang, Nan, Parton, Robert G., Cooney, Gregory J., North, Kathryn N.

“…Approximately one billion people worldwide are homozygous for a stop codon polymorphism in the ACTN3 gene (R577X) which results in complete deficiency of the…”
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The effect of α-actinin-3 deficiency on muscle aging by Seto, Jane T., Chan, Stephen, Turner, Nigel, MacArthur, Daniel G., Raftery, Joanna M., Berman, Yemima D., Quinlan, Kate G.R., Cooney, Gregory J., Head, Stewart, Yang, Nan, North, Kathryn N.

“…Deficiency of the fast-twitch muscle protein α-actinin-3 due to homozygosity for a nonsense polymorphism (R577X) in the ACTN3 gene is common in humans…”
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α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse by Yang, Nan, Schindeler, Aaron, McDonald, Michelle M, Seto, Jane T, Houweling, Peter J, Lek, Monkol, Hogarth, Marshall, Morse, Alyson R, Raftery, Joanna M, Balasuriya, Dominic, MacArthur, Daniel G, Berman, Yemima, Quinlan, Kate GR, Eisman, John A, Nguyen, Tuan V, Center, Jacqueline R, Prince, Richard L, Wilson, Scott G, Zhu, Kathy, Little, David G, North, Kathryn N

“…Abstract Bone mineral density (BMD) is a complex trait that is the single best predictor of the risk of osteoporotic fractures. Candidate gene and genome-wide…”
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a-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle by Quinlan, Kate GR, Seto, Jane T, Turner, Nigel, Vandebrouck, Aurelie, Floetenmeyer, Matthias, Macarthur, Daniel G, Raftery, Joanna M, Lek, Monkol, Yang, Nan, Parton, Robert G, Cooney, Gregory J, North, Kathryn N

“…Approximately one billion people worldwide are homozygous for a stop codon polymorphism in the ACTN3 gene (R577X) which results in complete deficiency of the…”
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Evidence Based Selection of Commonly Used RT-qPCR Reference Genes for the Analysis of Mouse Skeletal Muscle: e88653 by Thomas, Kristen C, Zheng, Xi Fiona, Suarez, Francia Garces, Raftery, Joanna M, Quinlan, Kate GR, Yang, Nan, North, Kathryn N, Houweling, Peter J

“…The ability to obtain accurate and reproducible data using quantitative real-time Polymerase Chain Reaction (RT-qPCR) is limited by the process of data…”
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An Actn3 knockout mouse provides mechanistic insights into the association between  -actinin-3 deficiency and human athletic performance by MacArthur, D. G., Seto, J. T., Chan, S., Quinlan, K. G.R., Raftery, J. M., Turner, N., Nicholson, M. D., Kee, A. J., Hardeman, E. C., Gunning, P. W., Cooney, G. J., Head, S. I., Yang, N., North, K. N.

“…A common nonsense polymorphism (R577X) in the ACTN3 gene results in complete deficiency of the fast skeletal muscle fiber protein α-actinin-3 in an estimated…”
Get full text