A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction

Pannexin1 (PANX1) is probably best understood as an ATP release channel involved in paracrine signaling. Given its ubiquitous expression, PANX1 pathogenic variants would be expected to lead to disorders involving multiple organ systems. Using whole exome sequencing, we discovered the first patient w...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Shao, Qing, Lindstrom, Kristin, Shi, Ruoyang, Kelly, John, Schroeder, Audrey, Juusola, Jane, Levine, Kara L., Esseltine, Jessica L., Penuela, Silvia, Jackson, Michael F., Laird, Dale W.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2016
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4933456/
https://ncbi.nlm.nih.gov/pubmed/27129271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.717934
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