PMC Links for Nucleotide (Select 1746322713) - PMC

Result Filters

Links from Nucleotide

Items: 5

Select item 64164241.

A polybasic motif in alternatively spliced KChIP2 isoforms prevents Ca²⁺ regulation of Kv4 channels

Jonathan G. Murphy, Dax A. Hoffman

J Biol Chem. 2019 Mar 8; 294(10): 3683–3695. Published online 2019 Jan 8. doi: 10.1074/jbc.RA118.006549

PMCID:: PMC6416424

Abstract Article PDF–4.8M

Select item 54379092.

Loss of Function of KCNC1 is associated with intellectual disability without seizures

Karine Poirier, Géraldine Viot, Laura Lombardi, Clémence Jauny, Pierre Billuart, Thierry Bienvenu

Eur J Hum Genet. 2017 May; 25(5): 560–564. Published online 2017 Feb 1. doi: 10.1038/ejhg.2017.3

PMCID:: PMC5437909

Abstract Article PDF–391K

Select item 1230073.

Obligatory heterotetramerization of three previously uncharacterized Kv channel α-subunits identified in the human genome

N. Ottschytsch, A. Raes, D. Van Hoorick, D. J. Snyders

Proc Natl Acad Sci U S A. 2002 Jun 11; 99(12): 7986–7991. doi: 10.1073/pnas.122617999

PMCID:: PMC123007

Abstract Article PDF–455K

Select item 66495784.

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic

Ann Clin Transl Neurol. 2019 Jul; 6(7): 1263–1272. Published online 2019 Jul 1. doi: 10.1002/acn3.50822