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Li, V. DSC2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4951 (accessed on 29 September 2026).
Li V. DSC2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4951. Accessed September 29, 2026.
Li, Vivi. "DSC2 Gene" Encyclopedia, https://encyclopedia.pub/entry/4951 (accessed September 29, 2026).
Li, V. (2020, December 24). DSC2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4951
Li, Vivi. "DSC2 Gene." Encyclopedia. Web. 24 December, 2020.
DSC2 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/dsc2

Desmocollin 2: The DSC2 gene provides instructions for making a protein called desmocollin-2. 

genes

References

  1. De Bortoli M, Beffagna G, Bauce B, Lorenzon A, Smaniotto G, Rigato I, CaloreM, Li Mura IE, Basso C, Thiene G, Lanfranchi G, Danieli GA, Nava A, Rampazzo A.The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutationin arrhythmogenic right ventricular cardiomyopathy. Eur J Hum Genet. 2010Jul;18(7):776-82. doi: 10.1038/ejhg.2010.19.
  2. Gehmlich K, Syrris P, Peskett E, Evans A, Ehler E, Asimaki A, Anastasakis A,Tsatsopoulou A, Vouliotis AI, Stefanadis C, Saffitz JE, Protonotarios N, McKenna WJ. Mechanistic insights into arrhythmogenic right ventricular cardiomyopathycaused by desmocollin-2 mutations. Cardiovasc Res. 2011 Apr 1;90(1):77-87. doi:10.1093/cvr/cvq353.
  3. Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B. Mutantdesmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J HumGenet. 2006 Dec;79(6):1081-8.
  4. Lorenzon A, Pilichou K, Rigato I, Vazza G, De Bortoli M, Calore M, Occhi G,Carturan E, Lazzarini E, Cason M, Mazzotti E, Poloni G, Mostacciuolo ML, DalientoL, Thiene G, Corrado D, Basso C, Bauce B, Rampazzo A. Homozygous Desmocollin-2Mutations and Arrhythmogenic Cardiomyopathy. Am J Cardiol. 2015 Oct15;116(8):1245-51. doi: 10.1016/j.amjcard.2015.07.037.
  5. Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER,Crosby AH. Homozygous mutation of desmocollin-2 in arrhythmogenic rightventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.Cardiology. 2009;113(1):28-34. doi: 10.1159/000165696.
  6. Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKennaWJ. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated withmutations in the desmosomal gene desmocollin-2. Am J Hum Genet. 2006Nov;79(5):978-84.
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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 : Vivi Li
View Times: 721
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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