Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Kiely N, James"'
Autor:
Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background In diagnosis of rare genetic diseases we face a decision as to the degree to which the sequencing lab offers one or more diagnoses based on clinical input provided by the clinician, or the clinician reaches a diagnosis based on th
Externí odkaz:
https://doaj.org/article/602ee97181f24459813280ff8f4b5023
Autor:
Camila A. B. Garcia, Simone C. S. Carvalho, Xiaoxu Yang, Laurel L. Ball, Renee D. George, Kiely N. James, Valentina Stanley, Martin W. Breuss, Ursula Thomé, Marcelo V. Santos, Fabiano P. Saggioro, Luciano Neder Serafini, Wilson A. Silva Jr, Joseph G. Gleeson, Hélio R. Machado
Publikováno v:
Epilepsia Open, Vol 5, Iss 1, Pp 97-106 (2020)
Abstract Objectives Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular funct
Externí odkaz:
https://doaj.org/article/1f3c6d7b09ea410daa70db74d4bc3c11
Autor:
Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene th
Externí odkaz:
https://doaj.org/article/2b11aa05a4174343ac7596764303089f
Autor:
Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically unsolved. This prevents adequate counseling and clear recommendations in these families. W
Externí odkaz:
https://doaj.org/article/4c768b28545c4e9c80d7adf8d44f46ec
Autor:
Benjamin T. Throesch, Muhammad Khadeesh bin Imtiaz, Rodrigo Muñoz-Castañeda, Masahiro Sakurai, Andrea L. Hartzell, Kiely N. James, Alberto R. Rodriguez, Greg Martin, Giordano Lippi, Sergey Kupriyanov, Zhuhao Wu, Pavel Osten, Juan Carlos Izpisua Belmonte, Jun Wu, Kristin K. Baldwin
The genome is the ultimate architect of the brain. Its evolutionary variations build the neural circuits that endow each species with its innate senses and behaviors. A central question for neuroscience and translational medicine is whether neural ci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c7e71f52353c2e7ae2356f7ae70845c
https://doi.org/10.1101/2023.04.13.536815
https://doi.org/10.1101/2023.04.13.536815
Publikováno v:
Advances in Molecular Pathology. 3:143-155
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2992b5c715ca9848fab889285478dba
https://doi.org/10.1016/j.yamp.2020.07.013
https://doi.org/10.1016/j.yamp.2020.07.013
Autor:
Kiely N. James, Fabiano Pinto Saggioro, Camila Araújo Bernardino Garcia, Renee D. George, Xiaoxu Yang, Martin W. Breuss, Ursula Thomé, Laurel L. Ball, Wilson A. Silva, Luciano Neder Serafini, Marcelo Volpon Santos, Simone da Costa e Silva Carvalho, Hélio Rubens Machado, Joseph G. Gleeson, Valentina Stanley
Publikováno v:
Epilepsia Open, Vol 5, Iss 1, Pp 97-106 (2020)
Epilepsia Open
Epilepsia open, vol 5, iss 1
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Epilepsia Open
Epilepsia open, vol 5, iss 1
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Objectives Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular functions such
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::365f908cbf0b47c448b854402572e43a
https://doaj.org/article/1f3c6d7b09ea410daa70db74d4bc3c11
https://doaj.org/article/1f3c6d7b09ea410daa70db74d4bc3c11
Autor:
Narayanan Veeraraghavan, Pankaj B. Agrawal, Paul Billings, Keri Ramsey, Casie A. Genetti, Martin G. Reese, Jeanette McCarthy, Terence C. Wong, Marcus Naymik, Catherine A. Brownstein, Vinodh Narayanan, Barry Moore, Britt Sabina Löscher, Mark Yandell, Francisco M. De La Vega, Edgar Javier Hernandez, Kiely N. James, Matthew J. Huentelman, Braden E. Boone, Shawn Levy, Stephen F. Kingsmore, Lucia Guidugli, Andre Franke, Erwin Frise, Shimul Chowdhury, Sander Pajusalu, Alan H. Beggs, Katrin Õunap
Publikováno v:
Genome Medicine
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Background Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artificial intelligence (AI) holds
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c314f91ebb4c8e19671c0f5da17b8990
https://doi.org/10.1186/s13073-021-00965-0
https://doi.org/10.1186/s13073-021-00965-0
Autor:
Xin Xu, Valentina Stanley, Jonathan Sebat, Xiaoxu Yang, Martin W. Breuss, Joseph G. Gleeson, Yan Ding, Beibei Cao, Jennifer McEvoy-Venneri, Renee D. George, An Nguyen, Lucitia Van Der Kraan, Sara A. Wirth, Guoliang Chai, Danny Antaki, Laurel L. Ball, Kiely N. James, Shareef Nahas
Publikováno v:
Cell, vol 184, iss 18
Cell
Cell
Throughout development and aging, human cells accumulate mutations, resulting in genomic mosaicism and genetic diversity at the cellular level. Mosaic mutations present in the gonads can affect both the individualand the offspring and subsequent gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a82cfc98b34f2feea42bf21572c8200f
https://escholarship.org/uc/item/32m300jj
https://escholarship.org/uc/item/32m300jj
Autor:
Sangmoon Lee, Ehsan Ghayoor Karimiani, Lauren Brick, Mariya Kozenko, Ghayda Mirzaa, Rachel Schot, M. Chiara Manzini, Kiely N. James, Henry Houlden, Grazia M.S. Mancini, Umut Altunoglu, Yalda Jamshidi, Dillon Y. Chen, Mehran Beiraghi Toosi, William B. Dobyns, Valentina Stanley, Reza Maroofian, Dalia Abdin, Tugba Kalayci, Heba Morsy, Jennifer McEvoy-Venneri, Nataliya Di Donato, Maha S. Zaki, Joseph G. Gleeson
Publikováno v:
American Journal of Human Genetics, 105(4), 844-853. Cell Press
American journal of human genetics, vol 105, iss 4
American journal of human genetics, vol 105, iss 4
Lissencephaly is a severe brain malformation in which failure of neuronal migration results in agyria or pachygyria and in which the brain surface appears unusually smooth. It is often associated with microcephaly, profound intellectual disability, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90d2840d40ed7110213c7890ff4c4eb3
https://doi.org/10.1016/j.ajhg.2019.08.013
https://doi.org/10.1016/j.ajhg.2019.08.013