Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Gareth A Cromie"'
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:
Anja Forche, Norma V Solis, Marc Swidergall, Robert Thomas, Alison Guyer, Annette Beach, Gareth A Cromie, Giang T Le, Emily Lowell, Norman Pavelka, Judith Berman, Aimeé M Dudley, Anna Selmecki, Scott G Filler
Publikováno v:
PLoS Genetics, Vol 15, Iss 5, p e1008137 (2019)
When the fungus Candida albicans proliferates in the oropharyngeal cavity during experimental oropharyngeal candidiasis (OPC), it undergoes large-scale genome changes at a much higher frequency than when it grows in vitro. Previously, we identified a
Externí odkaz:
https://doaj.org/article/404d9c387d5f45d796ff618e3ff1ebc0
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
Publikováno v:
PLoS Genetics, Vol 4, Iss 11, p e1000267 (2008)
The fission yeast Schizosaccharomyces pombe Rec12 protein, the homolog of Spo11 in other organisms, initiates meiotic recombination by creating DNA double-strand breaks (DSBs) and becoming covalently linked to the DNA ends of the break. This protein-
Externí odkaz:
https://doaj.org/article/8032bf3170014cfa82829f1190e08277
Publikováno v:
PLoS Genetics, Vol 3, Iss 8, p e141 (2007)
Meiotic recombination is initiated by DNA double-strand breaks (DSBs) made by Spo11 (Rec12 in fission yeast), which becomes covalently linked to the DSB ends. Like recombination events, DSBs occur at hotspots in the genome, but the genetic factors re
Externí odkaz:
https://doaj.org/article/b49598dd440744499602cd1523a1bde3
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:
Aimée M. Dudley, Russell S. Lo, Amy Sirr, Adrian C. Scott, Julee Ashmead, Mirutse Heyesus, Gareth A. Cromie
Publikováno v:
J Inherit Metab Dis
BACKGROUND: Defects in serine biosynthesis caused by loss of function mutations in PHGDH, PSAT1, and PSPH cause a set of rare, autosomal recessive diseases known as Neu-Laxova syndrome (NLS) or serine-deficiency disorders. The diseases present with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b62b700c58b797694a2e570db879f53f
https://europepmc.org/articles/PMC7444316/
https://europepmc.org/articles/PMC7444316/