PMC Links for Nucleotide (Select 1710749228) - PMC

Select item 66716791.

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

Abstract Article PDF–649K

Select item 56717622.

Phenotypic Evolution of UNC80 Loss of Function

Elise Valkanas, Katherine Schaffer, Christopher Dunham, Valerie Maduro, Christèle du Souich, Rosemarie Rupps, David R. Adams, Alireza Baradaran-Heravi, Elise Flynn, May C. Malicdan, William A. Gahl, Camilo Toro, Cornelius F. Boerkoel

Am J Med Genet A. Author manuscript; available in PMC 2017 Nov 5.

Published in final edited form as: Am J Med Genet A. 2016 Dec; 170(12): 3106–3114. Published online 2016 Aug 11. doi: 10.1002/ajmg.a.37929

PMCID:: PMC5671762

Abstract Article PDF–802K

Select item 47166703.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Asbjørg Stray-Pedersen, Jan-Maarten Cobben, Trine E. Prescott, Sora Lee, Chunlei Cang, Kimberly Aranda, Sohnee Ahmed, Marielle Alders, Thorsten Gerstner, Kathinka Aslaksen, Martine Tétreault, Wen Qin, Taila Hartley, Shalini N. Jhangiani, Donna M. Muzny, Maja Tarailo-Graovac, Clara D.M. van Karnebeek, Care4Rare Canada Consortium, Baylor-Hopkins Center for Mendelian Genomics, James R. Lupski, Dejian Ren, Grace Yoon

Am J Hum Genet. 2016 Jan 7; 98(1): 202–209. Published online 2015 Dec 17. doi: 10.1016/j.ajhg.2015.11.004

PMCID:: PMC4716670

Abstract Article PDF–904K

Select item 47166674.

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

Abstract Article PDF–1.1M

Select item 28104585.

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

Select item 28104566.

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

Abstract Article PDF–943K

Select item 22657677.

A Putative Cation Channel, NCA-1, and a Novel Protein, UNC-80, Transmit Neuronal Activity in C. elegans

Edward Yeh, Sharon Ng, Mi Zhang, Magali Bouhours, Ying Wang, Min Wang, Wesley Hung, Kyota Aoyagi, Katya Melnik-Martinez, Michelle Li, Fang Liu, William R Schafer, Mei Zhen

PLoS Biol. 2008 Mar; 6(3): e55. Published online 2008 Mar 11. doi: 10.1371/journal.pbio.0060055

PMCID:: PMC2265767

Abstract Article PDF–1.0M

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