NR0B2 c.278G>C ;(p.G93A)

Variant ID: 1-27240154-C-G

NM_021969.2(NR0B2):c.278G>C;(p.G93A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.

Annals Of Clinical And Translational Neurology
Deguise, Marc-Olivier MO; Baranello, Giovanni G; Mastella, Chiara C; Beauvais, Ariane A; Michaud, Jean J; Leone, Alessandro A; De Amicis, Ramona R; Battezzati, Alberto A; Dunham, Christopher C; Selby, Kathryn K; Warman Chardon, Jodi J; McMillan, Hugh J HJ; Huang, Yu-Ting YT; Courtney, Natalie L NL; Mole, Alannah J AJ; Kubinski, Sabrina S; Claus, Peter P; Murray, Lyndsay M LM; Bowerman, Melissa M; Gillingwater, Thomas H TH; Bertoli, Simona S; Parson, Simon H SH; Kothary, Rashmi R
Publication Date: 2019-08

Variant appearance in text: SHP: G93A
PubMed Link: 31402618
Variant Present in the following documents:
  • Main text
View BVdb publication page



Axon growth inhibition by RhoA/ROCK in the central nervous system.

Frontiers In Neuroscience
Fujita, Yuki Y; Yamashita, Toshihide T
Publication Date: 2014

Variant appearance in text: SHP: G93A
PubMed Link: 25374504
Variant Present in the following documents:
  • Main text
  • fnins-08-00338.pdf
View BVdb publication page



Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy.

Plos One
Thomson, Sophie R SR; Nahon, Joya E JE; Mutsaers, Chantal A CA; Thomson, Derek D; Hamilton, Gillian G; Parson, Simon H SH; Gillingwater, Thomas H TH
Publication Date: 2012

Variant appearance in text: SHP: G93A
PubMed Link: 23285108
Variant Present in the following documents:
  • Main text
  • pone.0052605.pdf
View BVdb publication page



Mechanisms of anti-inflammatory and neuroprotective actions of PPAR-gamma agonists.

Frontiers In Bioscience : A Journal And Virtual Library
Kapadia, Ramya R; Yi, Jae-Hyuk JH; Vemuganti, Raghu R
Publication Date: 2008-01-01

Variant appearance in text: SHP: G93A
PubMed Link: 17981670
Variant Present in the following documents:
  • Main text
View BVdb publication page