Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Elaine Marchi"'
Autor:
Gholson J. Lyon, Joseph Longo, Andrew Garcia, Fatima Inusa, Elaine Marchi, Daniel Shi, Max Dörfel, Thomas Arnesen, Rafael Aldabe, Scott Lyons, Melissa A. Nashat, David Bolton
Publikováno v:
PLoS ONE, Vol 19, Iss 5 (2024)
Externí odkaz:
https://doaj.org/article/53468b248e7c40a7bc6c2078e642e724
Autor:
Gholson Lyon, Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Lois Starr, Katherine Sandomirsky, Hanyin Cheng, Isabelle Preddy, Marcellus Tseng, Quan Li, Kai Wang, Maureen Gavin, Karen Amble, Ronen Marmorstein, Ellen Herr-Israel, Randie Harpell, Melissa Nashat, Ning Ma, Nadjet Belbachir, Joseph Wu, Tzung-Chien Hsieh, Peter Krawitz, Alan Rope, Frederick Monsma, Josephine Wesely, Yu-Ren Chen, Christopher Hunter, Lauren Bauer, Tom Rusielewicz, Stephen Kneeland, Cat Lutz, Kathy Snow, Steve Murray, Andrea Gropman, Matthew Whitehead, Andrew Garcia, Fatima Inusa, Joseph Longo, Nicole Fleischer, David Bolton, Martin Reese, Yu Hu
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100266- (2023)
Externí odkaz:
https://doaj.org/article/6ee2cf7739e74d029762a7fab02b9e5b
Autor:
Hyae Yon Kweon, Mi-Ni Lee, Max Dorfel, Seungwoon Seo, Leah Gottlieb, Thomas PaPazyan, Nina McTiernan, Rasmus Ree, David Bolton, Andrew Garcia, Michael Flory, Jonathan Crain, Alison Sebold, Scott Lyons, Ahmed Ismail, Elaine Marchi, Seong-keun Sonn, Se-Jin Jeong, Sejin Jeon, Shinyeong Ju, Simon J Conway, Taesoo Kim, Hyun-Seok Kim, Cheolju Lee, Tae-Young Roh, Thomas Arnesen, Ronen Marmorstein, Goo Taeg Oh, Gholson J Lyon
Publikováno v:
eLife, Vol 10 (2021)
Amino-terminal acetylation is catalyzed by a set of N-terminal acetyltransferases (NATs). The NatA complex (including X-linked Naa10 and Naa15) is the major acetyltransferase, with 40–50% of all mammalian proteins being potential substrates. Howeve
Externí odkaz:
https://doaj.org/article/d85446a69857408ca85b40a4aca5a127
Publikováno v:
American Journal of Medical Genetics Part A. 191:1293-1300
Autor:
Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung-Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Quan Li, Kai Wang, Anastassia Voronova, Peter M. Krawitz, Gholson J. Lyon
Publikováno v:
European Journal of Human Genetics. 30:1244-1254
Genetic variants in Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies. We report 25 unpublished individuals from 22 f
Autor:
Ola Kierzkowska, Kathleen Sarino, Drake Carter, Lily Guo, Elaine Marchi, Anastassia Voronova, Gholson J. Lyon
Publikováno v:
American Journal of Medical Genetics Part A.
Autor:
Gholson J. Lyon, Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Tzung-Chien Hsieh, Hannah Klinkhammer, Katherine Sandomirsky, Hanyin Cheng, Lois J. Starr, Isabelle Preddy, Marcellus Tseng, Quan Li, Yu Hu, Kai Wang, Ana Carvalho, Francisco Martinez, Alfonso Caro-Llopis, Maureen Gavin, Karen Amble, Peter Krawitz, Ronen Marmorstein, Ellen Herr-Israel
Publikováno v:
European Journal of Human Genetics.
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase
Autor:
Gholson J. Lyon, Joseph Longo, Andrew Garcia, Fatima Inusa, Elaine Marchi, Daniel Shi, Max Dörfel, Thomas Arnesen, Rafael Aldabe, Scott Lyons, Melissa Nashat, David Bolton
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene,NAA10,encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetylt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::053d56a66db78f439160df844e66d525
https://doi.org/10.1101/2023.04.27.538618
https://doi.org/10.1101/2023.04.27.538618
Autor:
Gholson J. Lyon, Marall Vedaie, Travis Besheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Tzung-Chien Hsieh, Hannah Klinkhammer, Katherine Sandomirsky, Hanyin Cheng, Lois J. Starr, Isabelle Preddy, Marcellus Tseng, Quan Li, Yu Hu, Kai Wang, Ana Carvalho, Francisco Martinez, Alfonso Caro-Llopis, Maureen Gavin, Karen Amble, Peter Krawitz, Ronen Marmorstein, Ellen Herr-Israel
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene,NAA10,encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a190b514c83de19dc61421f61a1dfbaa
https://doi.org/10.1101/2022.08.22.22279061
https://doi.org/10.1101/2022.08.22.22279061
Our study of 61 children with Ogden Syndrome, an X-linked disorder due to NAA10 gene mutations, demonstrated a high prevalence of growth failure, with weight and height percentiles often in the failure-to-thrive diagnostic range; although dramatic we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94c107b4d87c2539ee50066b8a40864f
https://doi.org/10.1101/2022.03.16.22272517
https://doi.org/10.1101/2022.03.16.22272517