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Items: 1 to 20 of 22

1.
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases
Javier A Muntadas , Martin R Hyland, Maria Del Rosario Ortolá Martínez, Jaime N Young, Jessica X Chong, Michael J Bamshad, Ricardo A. Maselli
BMC Med Genomics. 2024; 17: 207. Published online 2024 Aug 12. doi: 10.1186/s12920-024-01977-6
PMCID:
PMC11318227
AbstractArticlePDF–1.8M
2.
Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene
Sheng Tian, Huan Sun, Fen-Fang Gao, Kang Zhang, Jing Nan, Mu Niu, Xiao Jia, Gang Xu, Wei Ge
BMC Neurol. 2024; 24: 206. Published online 2024 Jun 17. doi: 10.1186/s12883-024-03716-x
PMCID:
PMC11181541
AbstractArticlePDF–1.1M
3.
CircFBXW4 Suppresses Colorectal Cancer Progression by Regulating the MiR‐338‐5p/SLC5A7 Axis
Wei Song, Jincheng Fu, Jing Wu, Jun Ren, Rensheng Xiang, Can Kong, Tao Fu
Adv Sci (Weinh) 2024 May; 11(18): 2300129. Published online 2024 Mar 10. doi: 10.1002/advs.202300129
PMCID:
PMC11095154
AbstractArticlePDF–7.7M
4.
Targeted demethylation of the SLC5A7 promotor inhibits colorectal cancer progression
Yang Li, Baike Liu, Xiaonan Yin, Zhiyuan Jiang, Chao Fang, Na Chen, Bo Zhang, Lei Dai, Yuan Yin
Clin Epigenetics. 2022; 14: 92. Published online 2022 Jul 20. doi: 10.1186/s13148-022-01308-5
PMCID:
PMC9301853
AbstractArticlePDF–4.4M
5.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
6.
Na+, Cl−, and pH Dependence of the Human Choline Transporter (hCHT) in Xenopus Oocytes: The Proton Inactivation Hypothesis of hCHT in Synaptic Vesicles
Hideki Iwamoto, Randy D. Blakely, Louis J. De Felice
J Neurosci. 2006 Sep 27; 26(39): 9851–9859. doi: 10.1523/JNEUROSCI.1862-06.2006
PMCID:
PMC6674471
AbstractArticlePDF–513K
7.
Polymorphic variation in the SLC5A7 gene influences infant autonomic reactivity and self-regulation: A neurobiological model for ANS stress responsivity and infant temperament
Mr. Christopher W. JONES, Dr. Sarah A.O. GRAY, Dr. Katherine P. THEALL, Dr. Stacy S. DRURY
Psychoneuroendocrinology. Author manuscript; available in PMC 2019 Nov 1.
Published in final edited form as: Psychoneuroendocrinology. 2018 Nov; 97: 28–36. Published online 2018 Jun 25. doi: 10.1016/j.psyneuen.2018.06.019
PMCID:
PMC6500559
AbstractArticlePDF–704K
8.
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Haicui Wang, Claire G Salter, Osama Refai, Holly Hardy, Katy E S Barwick, Ugur Akpulat, Malin Kvarnung, Barry A Chioza, Gaurav Harlalka, Fulya Taylan, Thomas Sejersen, Jane Wright, Holly H Zimmerman, Mert Karakaya, Burkhardt Stüve, Joachim Weis, Ulrike Schara, Mark A Russell, Omar A Abdul-Rahman, John Chilton, Randy D Blakely, Emma L Baple, Sebahattin Cirak, Andrew H Crosby
Brain. 2017 Nov; 140(11): 2838–2850. Published online 2017 Oct 27. doi: 10.1093/brain/awx249
PMCID:
PMC5844214
AbstractArticlePDF–7.6M
9.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Stéphanie Bauché, Seana O’Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
Am J Hum Genet. 2016 Sep 1; 99(3): 753–761. Published online 2016 Aug 25. doi: 10.1016/j.ajhg.2016.06.033
PMCID:
PMC5011057
AbstractArticlePDF–1.0M
10.
Insulin Regulates the Activity of the High-Affinity Choline Transporter CHT
Katherine J. Fishwick, R. Jane Rylett
PLoS One. 2015; 10(7): e0132934. Published online 2015 Jul 10. doi: 10.1371/journal.pone.0132934
PMCID:
PMC4498808
AbstractArticlePDF–924K
11.
Disposed to distraction: Genetic variation in the cholinergic system influences distractibility but not time-on-task effects
Anne S. Berry, Elise Demeter, Surya Sabhapathy, Brett A. English, Randy D. Blakely, Martin Sarter, Cindy Lustig
J Cogn Neurosci. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: J Cogn Neurosci. 2014 Sep; 26(9): 1981–1991. Published online 2014 Mar 25. doi: 10.1162/jocn_a_00607
PMCID:
PMC4445375
AbstractArticlePDF–503K
12.
The Presynaptic Choline Transporter Imposes Limits on Sustained Cortical Acetylcholine Release and Attention
Vinay Parikh, Megan St. Peters, Randy D. Blakely, Martin Sarter
J Neurosci. 2013 Feb 6; 33(6): 2326–2337. doi: 10.1523/JNEUROSCI.4993-12.2013
PMCID:
PMC3711270
AbstractArticlePDF–1.6M
13.
Transmembrane Topology and Oligomeric Structure of the High-affinity Choline Transporter
Takashi Okuda, Chieko Osawa, Haruhiko Yamada, Kengo Hayashi, Shizue Nishikawa, Tomoko Ushio, Yuji Kubo, Motoyasu Satou, Haruo Ogawa, Tatsuya Haga
J Biol Chem. 2012 Dec 14; 287(51): 42826–42834. Published online 2012 Nov 6. doi: 10.1074/jbc.M112.405027
PMCID:
PMC3522279
AbstractArticlePDF–2.7M
14.
Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy
Katy E.S. Barwick, Jane Wright, Saeed Al-Turki, Meriel M. McEntagart, Ajith Nair, Barry Chioza, Ali Al-Memar, Hamid Modarres, Mary M. Reilly, Katherine J. Dick, Alicia M. Ruggiero, Randy D. Blakely, Matt E. Hurles, Andrew H. Crosby
Am J Hum Genet. 2012 Dec 7; 91(6): 1103–1107. doi: 10.1016/j.ajhg.2012.09.019
PMCID:
PMC3516609
AbstractArticlePDF–320K
15.
Polymorphic variation in choline transporter gene (CHT1) is associated with early, subclinical measures of carotid atherosclerosis in humans
Serina A. Neumann, Katherine J. Linder, Matthew F. Muldoon, Kimberly Sutton-Tyrrell, Christopher Kline, Catherine J. Shrader, Elizabeth C. Lawrence, Robert E. Ferrell, Stephen B. Manuck
Int J Cardiovasc Imaging. Author manuscript; available in PMC 2012 Jul 24.
Published in final edited form as: Int J Cardiovasc Imaging. 2012 Feb; 28(2): 243–250. Published online 2011 Feb 20. doi: 10.1007/s10554-011-9831-4
PMCID:
PMC3403193
AbstractArticlePDF–295K
16.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
17.
Nuclear Choline Acetyltransferase Activates Transcription of a High-affinity Choline Transporter
Akinori Matsuo, Jean-Pierre Bellier, Masaki Nishimura, Osamu Yasuhara, Naoaki Saito, Hiroshi Kimura
J Biol Chem. 2011 Feb 18; 286(7): 5836–5845. Published online 2010 Dec 16. doi: 10.1074/jbc.M110.147611
PMCID:
PMC3037696
AbstractArticlePDF–2.1M
18.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M
19.
Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano
Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406
PMCID:
PMC1356129
AbstractArticlePDF–438K
20.
Localization of the Gene for Distal Hereditary Motor Neuronopathy VII (dHMN-VII) to Chromosome 2q14
Meriel McEntagart, Nadine Norton, Hywel Williams, M. Dawn Teare, Melanie Dunstan, Philip Baker, Henry Houlden, Mary Reilly, Nick Wood, Peter S. Harper, P. Andrew Futreal, Nigel Williams, Nazneen Rahman
Am J Hum Genet. 2001 May; 68(5): 1270–1276. Published online 2001 Apr 4. doi: 10.1086/320122
PMCID:
PMC1226107
AbstractArticlePDF–141K

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