PMC Links for OMIM (Select 611549) - PMC

Select item 60762251.

Forward genetic analysis of sleep in randomly mutagenized mice

Hiromasa Funato, Chika Miyoshi, Tomoyuki Fujiyama, Takeshi Kanda, Makito Sato, Zhiqiang Wang, Jing Ma, Shin Nakane, Jun Tomita, Aya Ikkyu, Miyo Kakizaki, Noriko Hotta, Satomi Kanno, Haruna Komiya, Fuyuki Asano, Takato Honda, Staci J. Kim, Kanako Harano, Hiroki Muramoto, Toshiya Yonezawa, Seiya Mizuno, Shinichi Miyazaki, Linzi Connor, Vivek Kumar, Ikuo Miura, Tomohiro Suzuki, Atsushi Watanabe, Manabu Abe, Fumihiro Sugiyama, Satoru Takahashi, Kenji Sakimura, Yu Hayashi, Qinghua Liu, Kazuhiko Kume, Shigeharu Wakana, Joseph S Takahashi, Masashi Yanagisawa

Nature. Author manuscript; available in PMC 2018 Aug 4.

Published in final edited form as: Nature. 2016 Nov 17; 539(7629): 378–383. Published online 2016 Nov 2. doi: 10.1038/nature20142

PMCID:: PMC6076225

Abstract Article PDF–4.4M

Select item 50278032.

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

Abstract Article PDF–1.0M

Select item 43754443.

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

Abstract Article PDF–882K

Select item 37912674.

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

Abstract Article PDF–780K

Select item 35308985.

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

Andrew V. Biankin, Nicola Waddell, Karin S. Kassahn, Marie-Claude Gingras, Lakshmi B. Muthuswamy, Amber L. Johns, David K. Miller, Peter J. Wilson, Ann-Marie Patch, Jianmin Wu, David K. Chang, Mark J. Cowley, Brooke B. Gardiner, Sarah Song, Ivon Harliwong, Senel Idrisoglu, Craig Nourse, Ehsan Nourbakhsh, Suzanne Manning, Shivangi Wani, Milena Gongora, Marina Pajic, Christopher J. Scarlett, Anthony J. Gill, Andreia V. Pinho, Ilse Rooman, Matthew Anderson, Oliver Holmes, Conrad Leonard, Darrin Taylor, Scott Wood, Qinying Xu, Katia Nones, J. Lynn Fink, Angelika Christ, Tim Bruxner, Nicole Cloonan, Gabriel Kolle, Felicity Newell, Mark Pinese, R. Scott Mead, Jeremy L. Humphris, Warren Kaplan, Marc D. Jones, Emily K. Colvin, Adnan M. Nagrial, Emily S. Humphrey, Angela Chou, Venessa T. Chin, Lorraine A. Chantrill, Amanda Mawson, Jaswinder S. Samra, James G. Kench, Jessica A. Lovell, Roger J. Daly, Neil D. Merrett, Christopher Toon, Krishna Epari, Nam Q. Nguyen, Andrew Barbour, Nikolajs Zeps, Australian Pancreatic Cancer Genome Initiative, Nipun Kakkar, Fengmei Zhao, Yuan Qing Wu, Min Wang, Donna M. Muzny, William E. Fisher, F. Charles Brunicardi, Sally E. Hodges, Jeffrey G. Reid, Jennifer Drummond, Kyle Chang, Yi Han, Lora R. Lewis, Huyen Dinh, Christian J. Buhay, Timothy Beck, Lee Timms, Michelle Sam, Kimberly Begley, Andrew Brown, Deepa Pai, Ami Panchal, Nicholas Buchner, Richard De Borja, Robert E. Denroche, Christina K. Yung, Stefano Serra, Nicole Onetto, Debabrata Mukhopadhyay, Ming-Sound Tsao, Patricia A. Shaw, Gloria M. Petersen, Steven Gallinger, Ralph H. Hruban, Anirban Maitra, Christine A. Iacobuzio-Donahue, Richard D. Schulick, Christopher L. Wolfgang, Richard A. Morgan, Rita T. Lawlor, Paola Capelli, Vincenzo Corbo, Maria Scardoni, Giampaolo Tortora, Margaret A. Tempero, Karen M. Mann, Nancy A. Jenkins, Pedro A. Perez-Mancera, David J. Adams, David A. Largaespada, Lodewyk F. A. Wessels, Alistair G. Rust, Lincoln D. Stein, David A. Tuveson, Neal G. Copeland, Elizabeth A. Musgrove, Aldo Scarpa, James R. Eshleman, Thomas J. Hudson, Robert L. Sutherland, David A. Wheeler, John V. Pearson, John D. McPherson, Richard A. Gibbs, Sean M. Grimmond

Nature. Author manuscript; available in PMC 2012 Dec 27.

Published in final edited form as: Nature. 2012 Nov 15; 491(7424): 399–405. Published online 2012 Oct 24. doi: 10.1038/nature11547

PMCID:: PMC3530898

Abstract Article PDF–1.0M

Select item 29876306.

Extracellular Calcium Controls Background Current and Neuronal Excitability via an UNC79-UNC80-NALCN Cation Channel Complex

Boxun Lu, Qi Zhang, Haikun Wang, Yan Wang, Manabu Nakayama, Dejian Ren

Neuron. Author manuscript; available in PMC 2011 Nov 4.

Published in final edited form as: Neuron. 2010 Nov 4; 68(3): 488–499. doi: 10.1016/j.neuron.2010.09.014

PMCID:: PMC2987630

Abstract Article PDF–1.5M

Select item 28104587.

Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80

Boxun Lu, Yanhua Su, Sudipto Das, Haikun Wang, Yan Wang, Jin Liu, Dejian Ren

Nature. Author manuscript; available in PMC 2010 Jan 24.

Published in final edited form as: Nature. 2009 Feb 5; 457(7230): 741–744. Published online 2008 Dec 17. doi: 10.1038/nature07579

PMCID:: PMC2810458

Abstract Article PDF–901K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from OMIM

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity