Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Joanna M Raftery"'
Autor:
Kristen C Thomas, Xi Fiona Zheng, Francia Garces Suarez, Joanna M Raftery, Kate G R Quinlan, Nan Yang, Kathryn N North, Peter J Houweling
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e88653 (2014)
The ability to obtain accurate and reproducible data using quantitative real-time Polymerase Chain Reaction (RT-qPCR) is limited by the process of data normalization. The use of 'housekeeping' or 'reference' genes is the most common technique used to
Externí odkaz:
https://doaj.org/article/89b004ca902647d399c82759a23cdbcb
Autor:
Adam J L Cook, Joanna M Raftery, K K Edwin Lau, Andrew Jessup, Reuben S Harris, Shunichi Takeda, Christopher J Jolly
Publikováno v:
PLoS Biology, Vol 5, Iss 4, p e80 (2007)
Affinity maturation and class switching of antibodies requires activation-induced cytidine deaminase (AID)-dependent hypermutation of Ig V(D)J rearrangements and Ig S regions, respectively, in activated B cells. AID deaminates deoxycytidine bases in
Externí odkaz:
https://doaj.org/article/0f3e51b2894749d792db99e550e156e6
Autor:
Monkol Lek, Kathryn N. North, Sean M. Garvey, Nan Yang, Jane T. Seto, Michael A. Hauser, Kate G. R. Quinlan, Stewart I. Head, Daniel G. MacArthur, Fleur C. Garton, Joanna M. Raftery, Xi F. Zheng, Peter J. Houweling
Publikováno v:
Human Molecular Genetics. 20:2914-2927
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 maintain an ordered myofibrillar array. Homozygosity for the common null polymorphism (R5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f94cccd6870e20598331cc4fad46ffa
https://doi.org/10.1093/hmg/ddr196
https://doi.org/10.1093/hmg/ddr196
Autor:
Christine Yee, Adam Cook, George Sharbeen, K. K. Edwin Lau, Joanna M Raftery, Christopher J. Jolly
Publikováno v:
Nucleic Acids Research
Activation-induced cytidine deaminase (AID) protein initiates Ig gene mutation by deaminating cytosines, converting them into uracils. Excision of AID-induced uracils by uracil-N-glycosylase is responsible for most transversion mutations at G:C base
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506a7277fdb3da23c0d31a3e375b1e27
https://doi.org/10.1093/nar/gkq682
https://doi.org/10.1093/nar/gkq682
Autor:
Peter J. Houweling, Nan Yang, Xi Fiona Zheng, Francia Garces Suarez, Kristen C. Thomas, Joanna M. Raftery, Kathryn N. North, Kate G. R. Quinlan
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e88653 (2014)
PLoS ONE
PLoS ONE
The ability to obtain accurate and reproducible data using quantitative real-time Polymerase Chain Reaction (RT-qPCR) is limited by the process of data normalization. The use of 'housekeeping' or 'reference' genes is the most common technique used to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff31e2edb4fd2e32b25ea09477fd08ce
http://europepmc.org/articles/PMC3921188?pdf=render
http://europepmc.org/articles/PMC3921188?pdf=render
Autor:
Richard L. Prince, Yemima Berman, Scott Wilson, Nan Yang, Monkol Lek, David G. Little, Michelle M. McDonald, Kate G. R. Quinlan, Joanna M. Raftery, Jane T. Seto, Tuan V. Nguyen, Alyson Morse, Peter J. Houweling, Kathy Zhu, Marshall W. Hogarth, Aaron Schindeler, Daniel G. MacArthur, Kathryn N. North, John A. Eisman, Dominic Balasuriya
Publikováno v:
Bone, 49(4), 790-798. Elsevier Science
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 association studies have identified genetic variations in approximately 30 genetic loci associated w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6105f08a694b32ba6dd7fd3a2485708
https://cris.maastrichtuniversity.nl/en/publications/616d513a-9d0b-4506-a76d-f392ef0a2b1b
https://cris.maastrichtuniversity.nl/en/publications/616d513a-9d0b-4506-a76d-f392ef0a2b1b
Autor:
Kathryn N. North, Daniel G. MacArthur, Yemima Berman, Nigel Turner, Stephen Chan, Kate G. R. Quinlan, Nan Yang, Jane T. Seto, Gregory J. Cooney, Joanna M. Raftery, Stewart I. Head
Publikováno v:
Experimental gerontology. 46(4)
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. α-Actinin-3 deficiency (XX) is associated with reduced muscle strength/power and enhanced endura
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::569d6fa8e6184e48d4b6222e13c91db6
https://pubmed.ncbi.nlm.nih.gov/21112313
https://pubmed.ncbi.nlm.nih.gov/21112313
Autor:
Nan Yang, Joanna M. Raftery, Kathryn N. North, Monkol Lek, Robert G. Parton, Aurelie Vandebrouck, Gregory J. Cooney, Nigel Turner, Jane T. Seto, Kate G. R. Quinlan, Daniel G. MacArthur, Matthias Floetenmeyer
Publikováno v:
Human molecular genetics. 19(7)
Approximately one billion people worldwide are homozygous for a stop codon polymorphism in the ACTN3 gene (R577X) which results in complete deficiency of the fast fibre muscle protein alpha-actinin-3. ACTN3 genotype is associated with human athletic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58ad1211ae70a5f4af261c1d00d86ada
https://pubmed.ncbi.nlm.nih.gov/20089531
https://pubmed.ncbi.nlm.nih.gov/20089531
Autor:
Jane T. Seto, Megan D. Nicholson, Nigel Turner, Stephen Chan, Nan Yang, Edna C. Hardeman, Stewart I. Head, Kathryn N. North, Kate G. R. Quinlan, Peter W. Gunning, Joanna M. Raftery, Gregory J. Cooney, Daniel G. MacArthur, Anthony J. Kee
Publikováno v:
Human molecular genetics. 17(8)
A common nonsense polymorphism (R577X) in the ACTN3 gene results in complete deficiency of the fast skeletal muscle fiber protein alpha-actinin-3 in an estimated one billion humans worldwide. The XX null genotype is under-represented in elite sprint
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c463edd21a7e07212dbe3fc008c1c71e
https://pubmed.ncbi.nlm.nih.gov/18178581
https://pubmed.ncbi.nlm.nih.gov/18178581
Autor:
Kate G. R. Quinlan, Edna C. Hardeman, Daniel G. MacArthur, Frances A. Lemckert, Yemima Berman, Nan Yang, Michael R. Edwards, Anthony J. Kee, Simon Easteal, Gavin A. Huttley, Jeff Hook, Kathryn N. North, Jane T. Seto, Peter W. Gunning, Joanna M. Raftery
Publikováno v:
Nature genetics. 39(10)
More than a billion humans worldwide are predicted to be completely deficient in the fast skeletal muscle fiber protein alpha-actinin-3 owing to homozygosity for a premature stop codon polymorphism, R577X, in the ACTN3 gene. The R577X polymorphism is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f72c184e292b9580947ff5d23562b6a
https://pubmed.ncbi.nlm.nih.gov/17828264
https://pubmed.ncbi.nlm.nih.gov/17828264