PubMed (OMIM) for id: 1824

Year	Number of Results
1991	1
1993	2
1994	1
1997	1
2002	1
2006	2
2008	1
2009	1
2010	2
2013	1
2024	0

1

Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.

Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ. Gerull B, et al. Circ Cardiovasc Genet. 2013 Aug;6(4):327-36. doi: 10.1161/CIRCGENETICS.113.000097. Epub 2013 Jul 17. Circ Cardiovasc Genet. 2013. PMID: 23863954

2

The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.

De Bortoli M, Beffagna G, Bauce B, Lorenzon A, Smaniotto G, Rigato I, Calore M, Li Mura IE, Basso C, Thiene G, Lanfranchi G, Danieli GA, Nava A, Rampazzo A. De Bortoli M, et al. Eur J Hum Genet. 2010 Jul;18(7):776-82. doi: 10.1038/ejhg.2010.19. Epub 2010 Mar 3. Eur J Hum Genet. 2010. PMID: 20197793 Free PMC article.

3

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria.

Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W. Marcus FI, et al. Eur Heart J. 2010 Apr;31(7):806-14. doi: 10.1093/eurheartj/ehq025. Epub 2010 Feb 19. Eur Heart J. 2010. PMID: 20172912 Free PMC article.

4

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH. Simpson MA, et al. Cardiology. 2009;113(1):28-34. doi: 10.1159/000165696. Epub 2008 Oct 29. Cardiology. 2009. PMID: 18957847

5

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.

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. Heuser A, et al. Am J Hum Genet. 2006 Dec;79(6):1081-8. doi: 10.1086/509044. Epub 2006 Oct 3. Am J Hum Genet. 2006. PMID: 17186466 Free PMC article.

6

Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.

Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ. Syrris P, et al. Am J Hum Genet. 2006 Nov;79(5):978-84. doi: 10.1086/509122. Epub 2006 Sep 27. Am J Hum Genet. 2006. PMID: 17033975 Free PMC article.

7

Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria.

Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, Sachdev B, Rowland E, Elliott PM, McKenna WJ. Hamid MS, et al. J Am Coll Cardiol. 2002 Oct 16;40(8):1445-50. doi: 10.1016/s0735-1097(02)02307-0. J Am Coll Cardiol. 2002. PMID: 12392835 Free article.

8

Exon-intron organization of the human type 2 desmocollin gene (DSC2): desmocollin gene structure is closer to "classical" cadherins than to desmogleins.

Greenwood MD, Marsden MD, Cowley CM, Sahota VK, Buxton RS. Greenwood MD, et al. Genomics. 1997 Sep 15;44(3):330-5. doi: 10.1006/geno.1997.4894. Genomics. 1997. PMID: 9325054

9

Nomenclature of the desmosomal cadherins.

Buxton RS, Cowin P, Franke WW, Garrod DR, Green KJ, King IA, Koch PJ, Magee AI, Rees DA, Stanley JR, et al. Buxton RS, et al. J Cell Biol. 1993 May;121(3):481-3. doi: 10.1083/jcb.121.3.481. J Cell Biol. 1993. PMID: 8486729 Free PMC article. Review. No abstract available.

10

Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18.

King IA, Arnemann J, Spurr NK, Buxton RS. King IA, et al. Genomics. 1993 Nov;18(2):185-94. doi: 10.1006/geno.1993.1453. Genomics. 1993. PMID: 8288219

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