Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Maureen, Gavin"'
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
Publikováno v:
American Journal of Medical Genetics Part A. 191:1293-1300
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::48b4717befd3e6dafaebce78b974eea2
https://doi.org/10.1002/ajmg.a.63152
https://doi.org/10.1002/ajmg.a.63152
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72b1f354bfc0cb528fcbb062397e3556
https://doi.org/10.1038/s41431-023-01368-y
https://doi.org/10.1038/s41431-023-01368-y
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
Autor:
Maureen Gavin, Clifford A. Mevs, Elaine Marchi, Mohammed A. Junaid, Milen Velinov, Sabiha Khatoon, David Bolton
Publikováno v:
Clinica Chimica Acta. 507:62-68
Background The neuronal ceroid lipofuscinosis 2 (NCL2) or classic late-infantile neuronal ceroid lipofuscinosis (LINCL) is a neurogenetic disorder caused by mutations in the TPPI gene, which codes for the lysosomal tripeptidyl peptidase 1 (TPPI) EC 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d1b331c0a0f6e6ead79eb019e4d4b29
https://doi.org/10.1016/j.cca.2020.04.010
https://doi.org/10.1016/j.cca.2020.04.010
Autor:
Robert, Kleyner, Mohammad, Arif, Elaine, Marchi, Naomi, Horowitz, Andrea, Haworth, Brian, King, Maureen, Gavin, Karen, Amble, Milen, Velinov, Gholson J, Lyon
Publikováno v:
Cold Spring Harbor molecular case studies. 8(2)
An
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1c02356b915aa8ca055f29d9daff4072
https://pubmed.ncbi.nlm.nih.gov/34716203
https://pubmed.ncbi.nlm.nih.gov/34716203
Autor:
Maureen Gavin, Andrea Haworth, Naomi Horowitz, Robert Kleyner, Elaine Marchi, Brian A. King, Milen Velinov, Gholson J. Lyon, Arif Mohammad, Karen Amble
Publikováno v:
Molecular Case Studies. :mcs.a006137
An SLC30A9 associated cerebro renal syndrome was first reported in consanguineous Bedouin kindred by Perez et al in 2017. While the function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling, nuclear regulation, as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::826ed61e8dced2d44e2d4a393f9740e3
https://doi.org/10.1101/mcs.a006137
https://doi.org/10.1101/mcs.a006137
Autor:
Andrea Haworth, Sara R. Guariglia, Ricardo Madrid, William Korosh, Gholson J. Lyon, Maureen Gavin
Publikováno v:
Cold Spring Harbor Molecular Case Studies
A 9-yr 8-mo-old right-handed female presented with a history of gait difficulties, which first became apparent at age 9 mo of age, along with slurred speech and hand tremors while holding a tray. Her past medical history was significant for global de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e77a4e0b365afa485334b7a5665d6aa3
https://doi.org/10.1101/mcs.a005108
https://doi.org/10.1101/mcs.a005108
Autor:
Krystyna E. Wisniewski, W. Ted Brown, Milen Velinov, Violet Nealy, Jeffrey Messing, Guang Y. Wen, Edmund C. Jenkins, Maureen Gavin
Publikováno v:
Journal of Clinical Case Reports.
A case study conducted for 8 years from 2003 to 2010 with a one-year temporary interruption in 2008, revealed that Cystagon seemed to be a potential treatment agent for neuronal ceroid lipofuscinosis (NCL), also known as Batten disease. As the dosage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d20bc1f7a78fc928a9ae2b193b910cc5
https://doi.org/10.4172/2165-7920.1000108
https://doi.org/10.4172/2165-7920.1000108