Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Dillon Y. Chen"'
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-7 (2022)
Abstract Background To determine whether restricted diffusion of the callosal splenium is specific for seizure activity in neonates. Methods We performed a retrospective chart review of 123 neonates who had a diagnosis of hypoxic ischemic encephalopa
Externí odkaz:
https://doaj.org/article/70babd9dc2e04bb8b476bc349f0c63d3
Autor:
Lu Wang, Zhen Li, David Sievert, Desirée E. C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O. Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-4 (2021)
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21448-1
Externí odkaz:
https://doaj.org/article/47fc7e25d01448cf87274ea536ba865f
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Autor:
Lu Wang, Zhen Li, David Sievert, Desirée E. C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O. Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Asparaginyl-tRNA synthetase1 (NARS1) is required for protein synthesis. Here, the authors identify biallelic NARS1 mutations in individuals with microcephaly and neurodevelopmental delay. Cortical brain organoid modeling recapitulates microcephaly ch
Externí odkaz:
https://doaj.org/article/cc10dd5665ed408989d1b2eddc9acfe5
Autor:
Kathryn A. Robb, Tracey A. Rossi, Colleen Tansey, Gabrielle C. Hybki, Lisa A. Murphy, Reid K. Nakamura, Dillon Y. Chen
Publikováno v:
Veterinary Medicine and Science, Vol 5, Iss 1, Pp 48-60 (2019)
Abstract Previous studies in human medicine have found that patients prefer their doctors to be more formally attired, and that this influences their trust and confidence in their physician. The purpose of this study was to evaluate how veterinarians
Externí odkaz:
https://doaj.org/article/3db1c7fa5af844d9a26e8c7be79218af
Autor:
Kirsten Meagher, Michael J. Lyons, Seok-Ho Yu, Tong Wang, Cindy Skinner, Maria B. Cassera, Paul Goldberg, Neggy Rismanchi, Kali Wiggins, Dillon Y. Chen, Emilio F. Merino, Raymond J. Louie, Richard Steet, Heather Flanagan-Steet
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Variants in NUS1 are associated with a congenital disorder of glycosylation, developmental and epileptic encephalopathies, and are possible contributors to Parkinson’s disease pathogenesis. How the diverse functions of the NUS1-encoded Nog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::791bda22dbd73e59f95b856eea9fb861
http://europepmc.org/articles/PMC8263489
http://europepmc.org/articles/PMC8263489
Autor:
Ayca Dilruba Aslanger, Zhen Li, Valentina Stanley, Dillon Y. Chen, Joseph G. Gleeson, Gajja S. Salomons, David Sievert, Desirée E.C. Smith, Rasim Ozgur Rosti, Shereen G. Ghosh, Henry Houlden, Yulu Wang, Lu Wang, Marisa I. Mendes, Majdi Kara
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-4 (2021)
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21448-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50acb484dd65ed15d5e5cb33095abe51
https://doaj.org/article/47fc7e25d01448cf87274ea536ba865f
https://doaj.org/article/47fc7e25d01448cf87274ea536ba865f
Publikováno v:
Cureus
Cureus, vol 13, iss 7
Cureus, vol 13, iss 7
A seven-month-old previously healthy female infant presented with acute onset encephalopathy and left focal weakness in the setting of three months of non-productive cough. She was diagnosed with pulmonary tuberculosis (TB), and neuroimaging showed m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd739f608e066bd391574033c9c7b0c
http://europepmc.org/articles/PMC8351760
http://europepmc.org/articles/PMC8351760
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
Publikováno v:
Anal Biochem
Polysialic acid (polySia) is a linear homopolymer of α2-8-linked sialic acids that is highly expressed during early stages of mammalian brain development and modulates a multitude of cellular functions. While degree of polymerization (DP) can affect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16a31925ffd62aebe66c985d666a808f
https://pubmed.ncbi.nlm.nih.gov/34687617
https://pubmed.ncbi.nlm.nih.gov/34687617
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Autor:
Ayca Dilruba Aslanger, Valentina Stanley, Gajja S. Salomons, Yulu Wang, Dillon Y. Chen, Lu Wang, Marisa I. Mendes, Zhen Li, Henry Houlden, Joseph G. Gleeson, Rasim Ozgur Rosti, David Sievert, Majdi Kara, Desirée E.C. Smith, Shereen G. Ghosh
Publikováno v:
Nature Communications
Nature communications, 11(1):4038. Nature Publishing Group
Nature Communications, 11(1):4038. Nature Publishing Group UK
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Wang, L, Li, Z, Sievert, D, Smith, D E C, Mendes, M I, Chen, D Y, Stanley, V, Ghosh, S, Wang, Y, Kara, M, Aslanger, A D, Rosti, R O, Houlden, H, Salomons, G S & Gleeson, J G 2020, ' Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly ', Nature Communications, vol. 11, no. 1, 4038 . https://doi.org/10.1038/s41467-020-17454-4
Nature communications, 11(1):4038. Nature Publishing Group
Nature Communications, 11(1):4038. Nature Publishing Group UK
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Wang, L, Li, Z, Sievert, D, Smith, D E C, Mendes, M I, Chen, D Y, Stanley, V, Ghosh, S, Wang, Y, Kara, M, Aslanger, A D, Rosti, R O, Houlden, H, Salomons, G S & Gleeson, J G 2020, ' Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly ', Nature Communications, vol. 11, no. 1, 4038 . https://doi.org/10.1038/s41467-020-17454-4
Asparaginyl-tRNA synthetase1 (NARS1) is a member of the ubiquitously expressed cytoplasmic Class IIa family of tRNA synthetases required for protein translation. Here, we identify biallelic missense and frameshift mutations in NARS1 in seven patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed7d9c49ce2f5a1a6284d6fc3cf269c2
https://doi.org/10.1038/s41467-020-17454-4
https://doi.org/10.1038/s41467-020-17454-4
