Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Sho T Yano"'
Autor:
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano
Publikováno v:
Brain.
ATP1A3 encodes the α3 subunit of the sodium-potassium ATPase, one of two isoforms responsible for powering electrochemical gradients in neurons. Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::820c961c807b1c4c6560ab3f815afabe
https://doi.org/10.1093/brain/awad124
https://doi.org/10.1093/brain/awad124
Autor:
Kerri Spontarelli, Victoria C. Young, Ryan Sweazey, Alexandria Padro, Jeannie Lee, Tulio Bueso, Roberto M. Hernandez, Jongyeol Kim, Alexander Katz, Francis Rossignol, Clesson Turner, Caralynn M. Wilczewski, George L. Maxwell, Miguel Holmgren, Jeremy D. Bailoo, Sho T. Yano, Pablo Artigas
Publikováno v:
bioRxiv
Heterozygous germline variants inATP1A1, the gene encoding the α1 subunit of the Na+/K+-ATPase (NKA), have been linked to diseases including primary hyperaldosteronism and the peripheral neuropathy Charcot-Marie-Tooth disease (CMT).ATP1A1variants th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aa4416faed04d5105eb564f61944b2b
https://doi.org/10.1101/2023.03.05.531165
https://doi.org/10.1101/2023.03.05.531165
Publikováno v:
Genes
FMR1 (FMRP translational regulator 1) variants other than repeat expansion are known to cause disease phenotypes but can be overlooked if they are not accounted for in genetic testing strategies. We collected and reanalyzed the evidence for pathogeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8b7660a474e7292f3531ea7be872a241
https://pubmed.ncbi.nlm.nih.gov/34828275
https://pubmed.ncbi.nlm.nih.gov/34828275
Autor:
Sho T. Yano, Kenneth Silver
Publikováno v:
Hankey's Clinical Neurology ISBN: 9780429299476
The adult neurologist may also encounter patients with childhood-onset genetic disorders that were overlooked. This is in addition to patients with known childhood-onset neurogenetic disorders who survive into adulthood. A genetic diagnosis also prov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36506ae3af39526c7f36c8a378a0d585
https://doi.org/10.1201/9780429299476-10
https://doi.org/10.1201/9780429299476-10
Autor:
Sho T. Yano, Suzanne D. DeBrosse, Kenneth Silver, Richard Young, Kathryn J. Swoboda, Gyula Acsadi, Roseànne S. Ebel
Publikováno v:
Pediatric neurology. 73
Background We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a02f1461c2da8e392d11146189538176
https://pubmed.ncbi.nlm.nih.gov/29477659
https://pubmed.ncbi.nlm.nih.gov/29477659
Autor:
Lucia B. Rothman-Denes, Sho T. Yano
Publikováno v:
Molecular Microbiology. 79:1325-1338
Coliphage N4 infection leads to shut-off of host DNA replication without inhibition of host transcription or translation. We report the identification and characterization of gp8, the N4 gene product responsible for this phenotype. N4 gp8 is an Esche
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f5ce2af9529603f9d6e1bc5e2599b3ef
https://doi.org/10.1111/j.1365-2958.2010.07526.x
https://doi.org/10.1111/j.1365-2958.2010.07526.x
Publikováno v:
Journal of Clinical Neuroscience. 37:43
The use of synthetic cannabinoids is becoming more widespread. Familiarity with the potential toxicities associated with these agents will grow in importance. We present a case of a woman who developed onset of confusion, visual hallucinations, and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd88d3a6c8065b559c4c45a4e402f99
https://doi.org/10.1016/j.jocn.2016.10.046
https://doi.org/10.1016/j.jocn.2016.10.046
Publikováno v:
American journal of medical genetics. Part A. 167(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42fe0e82402e2ca4a8cdb4fcc629b888
https://pubmed.ncbi.nlm.nih.gov/25847229
https://pubmed.ncbi.nlm.nih.gov/25847229
Autor:
Sho T, Yano, Lucia B, Rothman-Denes
Publikováno v:
Molecular microbiology. 79(5)
Coliphage N4 infection leads to shut-off of host DNA replication without inhibition of host transcription or translation. We report the identification and characterization of gp8, the N4 gene product responsible for this phenotype. N4 gp8 is an Esche
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5e066967c5a32c33980c9a2a99d443ef
https://pubmed.ncbi.nlm.nih.gov/21205014
https://pubmed.ncbi.nlm.nih.gov/21205014
Publikováno v:
BMC Evolutionary Biology. 5:30
The chromosomes of higher plants are littered with retrotransposons that, in many cases, constitute as much as 80% of plant genomes. Long terminal repeat retrotransposons have been especially successful colonizers of the chromosomes of higher plants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::30ea1b7ebb9f12125f0aabea4531b1e2
https://doi.org/10.1186/1471-2148-5-30
https://doi.org/10.1186/1471-2148-5-30