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Items: 10

1.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Tassja Kalm, Claudia Schob, Hanna Völler, Thatjana Gardeitchik, Christian Gilissen, Rolph Pfundt, Chiara Klöckner, Konrad Platzer, Annick Klabunde-Cherwon, Markus Ries, Steffen Syrbe, Francesca Beccaria, Francesca Madia, Marcello Scala, Federico Zara, Floris Hofstede, Marleen E.H. Simon, Richard H. van Jaarsveld, Renske Oegema, Koen L.I. van Gassen, Sjoerd J.B. Holwerda, Tahsin Stefan Barakat, Arjan Bouman, Marjon van Slegtenhorst, Sara Álvarez, Alberto Fernández-Jaén, Javier Porta, Andrea Accogli, Margherita Maria Mancardi, Pasquale Striano, Michele Iacomino, Jong-Hee Chae, SeSong Jang, Soo Y. Kim, David Chitayat, Saadet Mercimek-Andrews, Christel Depienne, Antje Kampmeier, Alma Kuechler, Harald Surowy, Enrico Silvio Bertini, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Marco Tartaglia, Lucas Gauthier, David Genevieve, Mylène Tharreau, Noy Azoulay, Gal Zaks-Hoffer, Nesia K. Gilad, Naama Orenstein, Geneviève Bernard, Isabelle Thiffault, Jonas Denecke, Theresia Herget, Fanny Kortüm, Christian Kubisch, Robert Bähring, Stefan Kindler
Am J Hum Genet. 2024 Jun 6; 111(6): 1206–1221. Published online 2024 May 20. doi: 10.1016/j.ajhg.2024.04.019
PMCID:
PMC11179411
AbstractArticlePDF–3.6M
2.
Calbindin regulates Kv4.1 trafficking and excitability in dentate granule cells via CaMKII-dependent phosphorylation
Kyung-Ran Kim, Hyeon-Ju Jeong, Yoonsub Kim, Seung Yeon Lee, Yujin Kim, Hyun-Ji Kim, Suk-Ho Lee, Hana Cho, Jong-Sun Kang, Won-Kyung Ho
Exp Mol Med. 2021 Jul; 53(7): 1134–1147. Published online 2021 Jul 7. doi: 10.1038/s12276-021-00645-4
PMCID:
PMC8333054
AbstractArticlePDF–4.8M
3.
Neuronal Interleukin-16 (NIL-16): A Dual Function PDZ Domain Protein
Cornelia Kurschner, Michisuke Yuzaki
J Neurosci. 1999 Sep 15; 19(18): 7770–7780. doi: 10.1523/JNEUROSCI.19-18-07770.1999
PMCID:
PMC6782450
AbstractArticlePDF–604K
4.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
5.
S-Glutathionylation of an Auxiliary Subunit Confers Redox Sensitivity to Kv4 Channel Inactivation
Henry H. Jerng, Paul J. Pfaffinger
PLoS One. 2014; 9(3): e93315. Published online 2014 Mar 27. doi: 10.1371/journal.pone.0093315
PMCID:
PMC3968176
AbstractArticlePDF–1.6M
6.
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
7.
Inactivation Gating of Kv4 Potassium Channels : Molecular Interactions Involving the Inner Vestibule of the Pore
Henry H. Jerng, Mohammad Shahidullah, Manuel Covarrubias
J Gen Physiol. 1999 May 1; 113(5): 641–660. doi: 10.1085/jgp.113.5.641
PMCID:
PMC2222907
AbstractArticlePDF–316K
8.
Modulation of Kv4.2 Channel Expression and Gating by Dipeptidyl Peptidase 10 (DPP10)
Henry H. Jerng, Yan Qian, Paul J. Pfaffinger
Biophys J. 2004 Oct; 87(4): 2380–2396. doi: 10.1529/biophysj.104.042358
PMCID:
PMC1304660
AbstractArticlePDF–463K
9.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
10.
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
AbstractArticlePDF–118K

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