Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Aimée M Dudley"'
Autor:
Michael J Xie, Gareth A Cromie, Katherine Owens, Martin S Timour, Michelle Tang, J Nathan Kutz, Ayman W El-Hattab, Richard N McLaughlin, Aimée M Dudley
Publikováno v:
PLoS Genetics, Vol 19, Iss 10, p e1010972 (2023)
Reduced activity of the enzymes encoded by PHGDH, PSAT1, and PSPH causes a set of ultrarare, autosomal recessive diseases known as serine biosynthesis defects. These diseases present in a broad phenotypic spectrum: at the severe end is Neu-Laxova syn
Externí odkaz:
https://doaj.org/article/5cbfc7893cfb45d0b000a1426ef56261
Autor:
Justin C Fay, Ping Liu, Giang T Ong, Maitreya J Dunham, Gareth A Cromie, Eric W Jeffery, Catherine L Ludlow, Aimée M Dudley
Publikováno v:
PLoS Biology, Vol 17, Iss 3, p e3000147 (2019)
Strains of Saccharomyces cerevisiae used to make beer, bread, and wine are genetically and phenotypically distinct from wild populations associated with trees. The origins of these domesticated populations are not always clear; human-associated migra
Externí odkaz:
https://doaj.org/article/b6c4bad4d618493585da401d4f802499
Autor:
Cecilia Garmendia-Torres, Alexander Skupin, Sean A Michael, Pekka Ruusuvuori, Nathan J Kuwada, Didier Falconnet, Gregory A Cary, Carl Hansen, Paul A Wiggins, Aimée M Dudley
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e99428 (2014)
P-bodies belong to a large family of RNA granules that are associated with post-transcriptional gene regulation, conserved from yeast to mammals, and influence biological processes ranging from germ cell development to neuronal plasticity. RNA granul
Externí odkaz:
https://doaj.org/article/2ac7b0475acb43e3983bad4b8ced7e11
Autor:
Su-In Lee, Aimée M Dudley, David Drubin, Pamela A Silver, Nevan J Krogan, Dana Pe'er, Daphne Koller
Publikováno v:
PLoS Genetics, Vol 5, Iss 1, p e1000358 (2009)
Genome-wide RNA expression data provide a detailed view of an organism's biological state; hence, a dataset measuring expression variation between genetically diverse individuals (eQTL data) may provide important insights into the genetics of complex
Externí odkaz:
https://doaj.org/article/75832323fdd44b459c176e2ccaa96fd0
Autor:
Russell S. Lo, Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J. Nathan Kutz, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée M. Dudley
Publikováno v:
The American Journal of Human Genetics. 110:863-879
Publikováno v:
Yeast
Meiotic mapping, a linkage-based method for analyzing the recombinant progeny of a cross, has long been a cornerstone of genetic research. The yeast Saccharomyces cerevisiae is a powerful system because it is possible to isolate and cultivate the fou
Autor:
Michael J. Xie, Gareth A. Cromie, Katherine Owens, Martin S. Timour, Michelle Tang, J. Nathan Kutz, Ayman W. El-Hattab, Richard N. McLaughlin, Aimée M. Dudley
Publikováno v:
bioRxiv
BackgroundPathogenic variants inPHGDH, PSAT1, andPSPHcause a set of rare, autosomal recessive diseases known as serine biosynthesis defects. Serine biosynthesis defects present in a broad phenotypic spectrum that includes, at the severe end, Neu–La
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6546749b6c5e1e716fc5b17b1054840d
https://doi.org/10.1101/2023.01.11.523651
https://doi.org/10.1101/2023.01.11.523651
Autor:
Russell S. Lo, Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J. Nathan Kutz, Richard N. McLaughlin, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée M. Dudley
Deleterious mutations in the X-linked gene encoding ornithine transcarbamylase (OTC) cause the most common urea cycle disorder, OTC deficiency. This rare, but highly actionable disease can present with severe neonatal onset in males or with later ons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60733dfd756ab9a7ce8b0e35df56c66f
https://doi.org/10.1101/2022.10.26.513893
https://doi.org/10.1101/2022.10.26.513893
Autor:
Andy Goldschmidt, James Kunert-Graf, Adrian C. Scott, Zhihao Tan, Aimée M. Dudley, J. Nathan Kutz
Baker's yeast (Saccharomyces cerevisiae) is a model organism for studying the morphology that emerges at the scale of multi-cell colonies. To look at how morphology develops, we collect a dataset of time-lapse photographs of the growth of different s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32333e4b6670cef42af93391d4cdf356
http://arxiv.org/abs/2201.05259
http://arxiv.org/abs/2201.05259
Autor:
Sateesh Maddirevula, Hanan E. Shamseldin, Amy Sirr, Lama AlAbdi, Russell S. Lo, Nour Ewida, Mashael Al-Qahtani, Mais Hashem, Firdous Abdulwahab, Omar Aboyousef, Namik Kaya, Dorota Monies, May H. Salem, Naffaa Al Harbi, Hesham M. Aldhalaan, Hamad Alzaidan, Hadeel M. Almanea, Abrar K. Alsalamah, Fuad Al Mutairi, Samira Ismail, Ghada M. H. Abdel-Salam, Amal Alhashem, Ali Asery, Eissa Faqeih, Amal AlQassmi, Waleed Al-Hamoudi, Talal Algoufi, Mohammad Shagrani, Aimée M. Dudley, Fowzan S. Alkuraya
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)
Frontiers in Genetics, Vol 11 (2020)
There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evidence is the independent observation of pathogenic v