PMC Links for Gene (Select 3750) - PMC - NCBI

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Items: 10

Select item 111794111.

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

Abstract Article PDF–3.6M

Select item 39681762.

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

Abstract Article PDF–1.6M

Select item 22229073.

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

Abstract Article PDF–316K

Select item 83330544.

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

Abstract Article PDF–4.8M

Select item 13046605.

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

Abstract Article PDF–463K

Select item 67824506.

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

Abstract Article PDF–604K

Select item 61666827.

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

Abstract Article PDF–3.8M

Select item 5289288.

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

Abstract Article PDF–140K

Select item 1392419.

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

Abstract Article PDF–118K

Select item 317805910.

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

Abstract Article PDF–1.0M

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