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Zhou, V. CAV1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5075 (accessed on 22 September 2026).
Zhou V. CAV1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5075. Accessed September 22, 2026.
Zhou, Vicky. "CAV1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5075 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CAV1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5075
Zhou, Vicky. "CAV1 Gene." Encyclopedia. Web. 24 December, 2020.
CAV1 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/cav1

caveolin 1

genes

References

  1. Boscher C, Nabi IR. Caveolin-1: role in cell signaling. Adv Exp Med Biol.2012;729:29-50. doi: 10.1007/978-1-4614-1222-9_3. Review.
  2. Cao H, Alston L, Ruschman J, Hegele RA. Heterozygous CAV1 frameshift mutations(MIM 601047) in patients with atypical partial lipodystrophy andhypertriglyceridemia. Lipids Health Dis. 2008 Jan 31;7:3. doi:10.1186/1476-511X-7-3.
  3. Garg A, Kircher M, Del Campo M, Amato RS, Agarwal AK; University of WashingtonCenter for Mendelian Genomics. Whole exome sequencing identifies de novoheterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A. 2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115.
  4. Kim CA, Delépine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M,Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J,Lathrop M, Magré J. Association of a homozygous nonsense caveolin-1 mutation withBerardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab. 2008Apr;93(4):1129-34. doi: 10.1210/jc.2007-1328.
  5. Quest AF, Lobos-González L, Nuñez S, Sanhueza C, Fernández JG, Aguirre A,Rodríguez D, Leyton L, Torres V. The caveolin-1 connection to cell death andsurvival. Curr Mol Med. 2013 Feb;13(2):266-81. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vicky Zhou
View Times: 909
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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