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Items: 1 to 20 of 34

1.
Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant
Zhenyu Liao, Yali Liu, Yimin Wang, Qin Lu, Yu Peng, Qingsong Liu
Front Pediatr. 2022; 10: 927392. Published online 2022 Jul 13. doi: 10.3389/fped.2022.927392
PMCID:
PMC9326163
AbstractArticlePDF–906K
2.
Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties
Malik Bouasse, Hathaichanok Impheng, Zoe Servant, Philippe Lory, Arnaud Monteil
Sci Rep. 2019; 9: 11791. Published online 2019 Aug 13. doi: 10.1038/s41598-019-48071-x
PMCID:
PMC6692409
AbstractArticlePDF–3.3M
3.
Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity
Bernarda Lozic, Stefan Johansson, Sanja Lovric Kojundzic, Josko Markic, Per Morten Knappskog, Angelika F. Hahn, Helge Boman
Ann Clin Transl Neurol. 2016 Nov; 3(11): 876–883. Published online 2016 Oct 11. doi: 10.1002/acn3.362
PMCID:
PMC5099533
AbstractArticlePDF–1.8M
4.
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations
Eric G. Bend, Yue Si, David A. Stevenson, Pinar Bayrak-Toydemir, Tara M. Newcomb, Erik M. Jorgensen, Kathryn J. Swoboda
Neurology. 2016 Sep 13; 87(11): 1131–1139. doi: 10.1212/WNL.0000000000003095
PMCID:
PMC5027803
AbstractArticlePDF–1.0M
5.
Association Analysis of NALCN Polymorphisms rs1338041 and rs61973742 in a Chinese Population with Isolated Cervical Dystonia
Qingqing Zhou, Jing Yang, Bei Cao, Yongping Chen, Qianqian Wei, Ruwei Ou, Wei Song, Bi Zhao, Ying Wu, Huifang Shang
Parkinsons Dis. 2016; 2016: 9281790. Published online 2016 Apr 28. doi: 10.1155/2016/9281790
PMCID:
PMC4864546
AbstractArticlePDF–488K
6.
Sodium leak channel, non-selective contributes to the leak current in human myometrial smooth muscle cells from pregnant women
Erin L. Reinl, Rafael Cabeza, Ismail A. Gregory, Alison G. Cahill, Sarah K. England
Mol Hum Reprod. 2015 Oct; 21(10): 816–824. Published online 2015 Jul 1. doi: 10.1093/molehr/gav038
PMCID:
PMC4586347
AbstractArticlePDF–446K
7.
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita E. Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Margaret N. Berry, Maureen Bocian, Nicola Foulds, Maria Luisa Giovannucci Uzielli, Chad Haldeman-Englert, Raoul C.M. Hennekam, Paige Kaplan, Antonie D. Kline, Catherine L. Mercer, Malgorzata J.M. Nowaczyk, Jolien S. Klein Wassink-Ruiter, Elizabeth W. McPherson, Regina A. Moreno, Angela E. Scheuerle, Vandana Shashi, Cathy A. Stevens, John C. Carey, Arnaud Monteil, Philippe Lory, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad
Am J Hum Genet. 2015 Mar 5; 96(3): 462–473. doi: 10.1016/j.ajhg.2015.01.003
PMCID:
PMC4375444
AbstractArticlePDF–882K
8.
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel
Kin Y Mok, Susanne A Schneider, Daniah Trabzuni, Maria Stamelou, Mark Edwards, Dalia Kasperaviciute, Stuart Pickering-Brown, Monty Silverdale, John Hardy, Kailash P Bhatia
Mov Disord. 2014 Feb; 29(2): 245–251. Published online 2013 Nov 13. doi: 10.1002/mds.25732
PMCID:
PMC4208301
AbstractArticlePDF–560K
9.
A uniquely adaptable pore is consistent with NALCN being an ion sensor
Adriano Senatore, J. David Spafford
Channels (Austin) 2013 Mar 1; 7(2): 60–68. Published online 2013 Feb 26. doi: 10.4161/chan.23981
PMCID:
PMC3667885
AbstractArticlePDF–1.4M
10.
NALCN Ion Channels Have Alternative Selectivity Filters Resembling Calcium Channels or Sodium Channels
Adriano Senatore, Arnaud Monteil, Jan van Minnen, August B. Smit, J. David Spafford
PLoS One. 2013; 8(1): e55088. Published online 2013 Jan 28. doi: 10.1371/journal.pone.0055088
PMCID:
PMC3557258
AbstractArticlePDF–1.3M
11.
Phylogeny Unites Animal Sodium Leak Channels with Fungal Calcium Channels in an Ancient, Voltage-Insensitive Clade
Benjamin J. Liebeskind, David M. Hillis, Harold H. Zakon
Mol Biol Evol. 2012 Dec; 29(12): 3613–3616. Published online 2012 Jul 19. doi: 10.1093/molbev/mss182
PMCID:
PMC3494271
AbstractArticlePDF–388K
12.
Structure of the human sodium leak channel NALCN in complex with FAM155A
Jiongfang Xie, Meng Ke, Lizhen Xu, Shiyi Lin, Jin Huang, Jiabei Zhang, Fan Yang, Jianping Wu, Zhen Yan
Nat Commun. 2020; 11: 5831. Published online 2020 Nov 17. doi: 10.1038/s41467-020-19667-z
PMCID:
PMC7672056
AbstractArticlePDF–3.4M
13.
Nalcn Is a “Leak” Sodium Channel That Regulates Excitability of Brainstem Chemosensory Neurons and Breathing
Yingtang Shi, Chikara Abe, Benjamin B. Holloway, Shaofang Shu, Natasha N. Kumar, Janelle L. Weaver, Josh Sen, Edward Perez-Reyes, Ruth L. Stornetta, Patrice G. Guyenet, Douglas A. Bayliss
J Neurosci. 2016 Aug 3; 36(31): 8174–8187. doi: 10.1523/JNEUROSCI.1096-16.2016
PMCID:
PMC4971364
AbstractArticlePDF–3.1M
14.
The sodium leak channel, NALCN, in health and disease
Maud Cochet-Bissuel, Philippe Lory, Arnaud Monteil
Front Cell Neurosci. 2014; 8: 132. Published online 2014 May 20. doi: 10.3389/fncel.2014.00132
PMCID:
PMC4033012
AbstractArticlePDF–1.0M
15.
Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay
Moeenaldeen D. Al-Sayed, Hamad Al-Zaidan, AlBandary Albakheet, Hana Hakami, Rosan Kenana, Yusra Al-Yafee, Mazhor Al-Dosary, Alya Qari, Tarfa Al-Sheddi, Muhammed Al-Muheiza, Wafa Al-Qubbaj, Yamina Lakmache, Hindi Al-Hindi, Muhammad Ghaziuddin, Dilek Colak, Namik Kaya
Am J Hum Genet. 2013 Oct 3; 93(4): 721–726. doi: 10.1016/j.ajhg.2013.08.001
PMCID:
PMC3791267
AbstractArticlePDF–780K
16.
Methylation determines the extracellular calcium sensitivity of the leak channel NALCN in hippocampal dentate granule cells
Seul-Yi Lee, Tuan Anh Vuong, Xianlan Wen, Hyeon-Ju Jeong, Hyun-Kyung So, Ilmin Kwon, Jong-Sun Kang, Hana Cho
Exp Mol Med. 2019 Oct; 51(10): 119. Published online 2019 Oct 10. doi: 10.1038/s12276-019-0325-0
PMCID:
PMC6802672
AbstractArticlePDF–1.8M
17.
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
Nuria C. Bramswig, Aida M. Bertoli-Avella, Beate Albrecht, Aida I. Al Aqeel, Amal Alhashem, Nouriya Al-Sannaa, Maissa Bah, Katharina Bröhl, Christel Depienne, Nathalie Dorison, Diane Doummar, Nadja Ehmke, Hasnaa M. Elbendary, Svetlana Gorokhova, Delphine Héron, Denise Horn, Kiely James, Boris Keren, Alma Kuechler, Samira Ismail, Mahmoud Y. Issa, Isabelle Marey, Michèle Mayer, Jennifer McEvoy-Venneri, Andre Megarbane, Cyril Mignot, Sarar Mohamed, Caroline Nava, Nicole Philip, Cecile Ravix, Arndt Rolfs, Abdelrahim Abdrabou Sadek, Lara Segebrecht, Valentina Stanley, Camille Trautman, Stephanie Valence, Laurent Villard, Thomas Wieland, Hartmut Engels, Tim M. Strom, Maha S. Zaki, Joseph G. Gleeson, Hermann-Josef Lüdecke, Peter Bauer, Dagmar Wieczorek
Hum Genet. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: Hum Genet. 2018 Sep; 137(9): 753–768. Published online 2018 Aug 23. doi: 10.1007/s00439-018-1929-5
PMCID:
PMC6671679
AbstractArticlePDF–649K
18.
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy
Hanan E. Shamseldin, Eissa Faqeih, Ali Alasmari, Maha S. Zaki, Joseph G. Gleeson, Fowzan S. Alkuraya
Am J Hum Genet. 2016 Jan 7; 98(1): 210–215. Published online 2015 Dec 17. doi: 10.1016/j.ajhg.2015.11.013
PMCID:
PMC4716667
AbstractArticlePDF–1.1M
19.
Genome-wide Association Study of Neurocognitive Impairment and Dementia in HIV-Infected Adults
Andrew J. Levine, Susan Service, Eric N. Miller, Sandra M. Reynolds, Elyse J. Singer, Paul Shapshak, Eileen M. Martin, Ned Sacktor, James T. Becker, Lisa P. Jacobson, Paul Thompson, Nelson Freimer
Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2013 Sep 1.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2012 Sep; 159B(6): 669–683. Published online 2012 May 24. doi: 10.1002/ajmg.b.32071
PMCID:
PMC3418456
AbstractArticlePDF–549K
20.
UNC80 functions as a scaffold for Src kinases in NALCN channel function
Haikun Wang, Dejian Ren
Channels (Austin) Author manuscript; available in PMC 2010 Jan 24.
Published in final edited form as: Channels (Austin). 2009 May–Jun; 3(3): 161–163. Published online 2009 May 27. doi: 10.4161/chan.3.3.8853
PMCID:
PMC2810456
AbstractArticlePDF–943K

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