Full text in PMC (nucleotide) for Gene (Select 230233) - PMC

Select item 64516981.

ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia

Elisabetta Morini, Dadi Gao, Connor M. Montgomery, Monica Salani, Chiara Mazzasette, Tobias A. Krussig, Brooke Swain, Paula Dietrich, Jana Narasimhan, Vijayalakshmi Gabbeta, Amal Dakka, Jean Hedrick, Xin Zhao, Marla Weetall, Nikolai A. Naryshkin, Gregory G. Wojtkiewicz, Chien-Ping Ko, Michael E. Talkowski, Ioannis Dragatsis, Susan A. Slaugenhaupt

Am J Hum Genet. 2019 Apr 4; 104(4): 638–650. Published online 2019 Mar 21. doi: 10.1016/j.ajhg.2019.02.009

PMCID:: PMC6451698

Article PDF–1.8M

Select item 60784102.

Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia

Yumi Ueki, Veronika Shchepetkina, Frances Lefcort

Dis Model Mech. 2018 Jul 1; 11(7): dmm033746. Published online 2018 Jul 30. doi: 10.1242/dmm.033746

PMCID:: PMC6078410

Article

Select item 60309173.

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model

Irving Donadon, Mirko Pinotti, Katarzyna Rajkowska, Giulia Pianigiani, Elena Barbon, Elisabetta Morini, Helena Motaln, Boris Rogelj, Federico Mingozzi, Susan A Slaugenhaupt, Franco Pagani

Hum Mol Genet. 2018 Jul 15; 27(14): 2466–2476. Published online 2018 Apr 25. doi: 10.1093/hmg/ddy151

Correction in:: Hum Mol Genet. 2024 Mar 21

PMCID:: PMC6030917

Article PDF–682K

Select item 58327914.

Elongator and codon bias regulate protein levels in mammalian peripheral neurons

Joy Goffena, Frances Lefcort, Yongqing Zhang, Elin Lehrmann, Marta Chaverra, Jehremy Felig, Joseph Walters, Richard Buksch, Kevin G. Becker, Lynn George

Nat Commun. 2018; 9: 889. Published online 2018 Mar 1. doi: 10.1038/s41467-018-03221-z

PMCID:: PMC5832791

Article PDF–1.6M

Select item 51271535.

Familial Dysautonomia: Mechanisms and Models

Paula Dietrich, Ioannis Dragatsis

Genet Mol Biol. 2016 Oct-Dec; 39(4): 497–514. Published online 2016 Aug 4. doi: 10.1590/1678-4685-GMB-2015-0335

PMCID:: PMC5127153

Article PDF–2.4M

Select item 39974296.

IKAP Deficiency in an FD Mouse Model and in Oligodendrocyte Precursor Cells Results in Downregulation of Genes Involved in Oligodendrocyte Differentiation and Myelin Formation

David Cheishvili, Paula Dietrich, Channa Maayan, Aviel Even, Miguel Weil, Ioannis Dragatsis, Aharon Razin

PLoS One. 2014; 9(4): e94612. Published online 2014 Apr 23. doi: 10.1371/journal.pone.0094612

PMCID:: PMC3997429

Article PDF–855K

Select item 19764307.

A humanized IKBKAP transgenic mouse models a tissue specific human splicing defect

Matthew M. Hims, Ranjit S. Shetty, James Pickel, James Mull, Maire Leyne, Lijuan Liu, James F. Gusella, Susan A. Slaugenhaupt

Genomics. Author manuscript; available in PMC 2008 Mar 1.

Published in final edited form as: Genomics. 2007 Sep; 90(3): 389–396. Published online 2007 Jul 17. doi: 10.1016/j.ygeno.2007.05.012

PMCID:: PMC1976430

Article PDF–1.1M

Select item 3109928.

RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer

Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki

Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600

PMCID:: PMC310992

Article PDF–3.4M

Select item 3109809.

Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes

Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki

Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100

PMCID:: PMC310980

Article PDF–1.4M

Select item 16551110.

BayGenomics: a resource of insertional mutations in mouse embryonic stem cells

Doug Stryke, Michiko Kawamoto, Conrad C. Huang, Susan J. Johns, Leslie A. King, Courtney A. Harper, Elaine C. Meng, Roy E. Lee, Alice Yee, Larry L'Italien, Pao-Tien Chuang, Stephen G. Young, William C. Skarnes, Patricia C. Babbitt, Thomas E. Ferrin

Nucleic Acids Res. 2003 Jan 1; 31(1): 278–281. doi: 10.1093/nar/gkg064

PMCID:: PMC165511

Article PDF–217K

Select item 13924111.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Article PDF–118K

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