Citations for
1IHPRF2, NALCN, UNC79, UNC80
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS.
Am J Hum Genet 98(1):210-5. doi: 10.1016/j.ajhg.2015.11.013. Epub 2015 Dec 17. 2016
2IHPRF2, NALCN, UNC79, UNC80
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD; Care4Rare Canada Consortium; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Ren D, Yoon G.
Am J Hum Genet 98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17. 2016
3CLIFAHDD, NALCN
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay.
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.
Am J Hum Genet 96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12. 2015
4IHPRF, NALCN
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N.
Am J Hum Genet 93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26. 2013
5IHPRF, NALCN
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.
Köroğlu Ç, Seven M, Tolun A.
J Med Genet 50(8):515-20. doi: 10.1136/jmedgenet-2013-101634. Epub 2013 Jun 7. 2013
6NALCN
A uniquely adaptable pore is consistent with NALCN being an ion sensor.
Senatore A, Spafford JD.
Channels (Austin) 7(2):60-8. doi: 10.4161/chan.23981. Epub 2013 Feb 26. 2013
7NALCN
NALCN ion channels have alternative selectivity filters resembling calcium channels or sodium channels.
Senatore A, Monteil A, van Minnen J, Smit AB, Spafford JD.
PLoS One 8(1):e55088. doi: 10.1371/journal.pone.0055088. Epub 2013 Jan 28. 2013
8NALCN
NALCN: a regulator of pacemaker activity.
Lu TZ, Feng ZP.
Mol Neurobiol 45(3):415-23. doi: 10.1007/s12035-012-8260-2. Epub 2012 Apr 4. Review. 2012
9NALCN
Genetic analysis of mouse strains with variable serum sodium concentrations identifies the Nalcn sodium channel as a novel player in osmoregulation.
Sinke AP, Caputo C, Tsaih SW, Yuan R, Ren D, Deen PM, Korstanje R.
Physiol Genomics 43(5):265-70. doi: 10.1152/physiolgenomics.00188.2010. Epub 2010 Dec 21. 2011
10NALCN
The NALCN ion channel is a new actor in pancreatic β-cell physiology.
Swayne LA, Mezghrani A, Lory P, Nargeot J, Monteil A.
Islets 2(1):54-6. doi: 10.4161/isl.2.1.10522. Review. 2010
11NALCN, UNC79, UNC80
Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex.
Lu B, Zhang Q, Wang H, Wang Y, Nakayama M, Ren D.
Neuron 68(3):488-99. doi: 10.1016/j.neuron.2010.09.014. 2010
12NALCN, UNC80
Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80.
Lu B, Su Y, Das S, Wang H, Wang Y, Liu J, Ren D.
Nature 457(7230):741-4. Epub 2008 Dec 17. 2009
13NALCN
The NALCN ion channel is activated by M3 muscarinic receptors in a pancreatic beta-cell line.
Swayne LA, Mezghrani A, Varrault A, Chemin J, Bertrand G, Dalle S, Bourinet E, Lory P, Miller RJ, Nargeot J, Monteil A.
EMBO Rep 10(8):873-80. Epub 2009 Jul 3. 2009
14NALCN, UNC80
UNC80 functions as a scaffold for Src kinases in NALCN channel function.
Wang H, Ren D.
Channels (Austin) 3(3):161-3. Epub 2009 May 27. 2009
15NALCN
The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm.
Lu B, Su Y, Das S, Liu J, Xia J, Ren D.
Cell 129(2):371-83. 2007
16NALCN
The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm.
Lu B, Su Y, Das S, Liu J, Xia J, Ren D.
Cell 129(2):371-83. 2007