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Items: 1 to 20 of 109

1.

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.

Klauke B, Gaertner-Rommel A, Schulz U, Kassner A, Zu Knyphausen E, Laser T, Kececioglu D, Paluszkiewicz L, Blanz U, Sandica E, van den Bogaerdt AJ, van Tintelen JP, Gummert J, Milting H.

PLoS One. 2017 Dec 18;12(12):e0189489. doi: 10.1371/journal.pone.0189489. eCollection 2017.

2.

Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation.

Soveizi M, Rabbani B, Rezaei Y, Saedi S, Najafi N, Maleki M, Mahdieh N.

Ann Hum Genet. 2017 Jul;81(4):135-140. doi: 10.1111/ahg.12193. Epub 2017 May 19. Review.

PMID:
28523642
3.

Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion.

Sonoda K, Ohno S, Otuki S, Kato K, Yagihara N, Watanabe H, Makiyama T, Minamino T, Horie M.

Europace. 2017 Apr 1;19(4):644-650. doi: 10.1093/europace/euw038.

PMID:
28431057
4.

Up-regulation of plakophilin-2 is correlated with the progression of glioma.

Zhang D, Qian Y, Liu X, Yu H, Zhao N, Wu Z.

Neuropathology. 2017 Jun;37(3):207-216. doi: 10.1111/neup.12363. Epub 2017 Jan 26.

PMID:
28124385
5.

Molecular Autopsy of Desmosomal Protein Plakophilin-2 in Sudden Unexplained Nocturnal Death Syndrome.

Huang L, Tang S, Peng L, Chen Y, Cheng J.

J Forensic Sci. 2016 May;61(3):687-91. doi: 10.1111/1556-4029.13027. Epub 2016 Jan 4.

PMID:
27122407
6.

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.

Ramond F, Janin A, Di Filippo S, Chanavat V, Chalabreysse L, Roux-Buisson N, Sanlaville D, Touraine R, Millat G.

Clin Genet. 2017 Jan;91(1):126-130. doi: 10.1111/cge.12780. Epub 2016 Apr 26.

PMID:
27030002
7.

[THE EFFECT OF PLAKOPHILIN-2 GENE MUTATIONS ON ACTIVITY OF THE CANONICAL Wnt SIGNALING PATHWAY].

Khudiakov AA, Kostina DA, Kostareva AA, Tomilin AN, Malashicheva AB.

Tsitologiia. 2015;57(12):868-75. Russian.

PMID:
26995964
8.

Safety of American Heart Association-recommended minimum exercise for desmosomal mutation carriers.

Sawant AC, Te Riele AS, Tichnell C, Murray B, Bhonsale A, Tandri H, Judge DP, Calkins H, James CA.

Heart Rhythm. 2016 Jan;13(1):199-207. doi: 10.1016/j.hrthm.2015.08.035. Epub 2015 Aug 29.

PMID:
26321091
9.

Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population.

Christensen AH, Kamstrup PR, Gandjbakhch E, Benn M, Jensen JS, Bundgaard H, Villard E, Tybjærg-Hansen A.

Eur J Hum Genet. 2016 May;24(5):732-8. doi: 10.1038/ejhg.2015.171. Epub 2015 Aug 12.

10.

Arrhythmogenic Left Ventricular Cardiomyopathy: Suspected by Cardiac Magnetic Resonance Imaging, Confirmed by Identification of a Novel Plakophilin-2 Variant.

Saguner AM, Buchmann B, Wyler D, Manka R, Gotschy A, Medeiros-Domingo A, Brunckhorst C, Duru F, Mayer KA.

Circulation. 2015 Aug 11;132(6):e38-40. doi: 10.1161/CIRCULATIONAHA.115.017284. No abstract available.

11.

Epsilon wave uncovered by exercise test in a patient with desmoplakin-positive arrhythmogenic right ventricular cardiomyopathy.

Adler A, Perrin MJ, Spears D, Gollob MH.

Can J Cardiol. 2015 Jun;31(6):819.e1-2. doi: 10.1016/j.cjca.2015.01.025. Epub 2015 Jan 29.

PMID:
25936878
12.

Is Brugada syndrome a variant of arrhythmogenic cardiomyopathy?

Peters S.

Int J Cardiol. 2015;189:88-90. doi: 10.1016/j.ijcard.2015.03.394. Epub 2015 Mar 28. Review. No abstract available.

PMID:
25889434
13.

Exercise triggers ARVC phenotype in mice expressing a disease-causing mutated version of human plakophilin-2.

Cruz FM, Sanz-Rosa D, Roche-Molina M, García-Prieto J, García-Ruiz JM, Pizarro G, Jiménez-Borreguero LJ, Torres M, Bernad A, Ruíz-Cabello J, Fuster V, Ibáñez B, Bernal JA.

J Am Coll Cardiol. 2015 Apr 14;65(14):1438-50. doi: 10.1016/j.jacc.2015.01.045.

14.

Extreme variability in clinical penetrance for a splice-site Plakophilin-2 mutation in a Bangladeshi family.

Sayeed MZ, Salam MA, Islam AK, Bhuiyan ZA.

Clin Genet. 2015 Nov;88(5):502-4. doi: 10.1111/cge.12578. Epub 2015 Mar 19. No abstract available.

PMID:
25786693
15.

Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.

Alcalde M, Campuzano O, Berne P, García-Pavía P, Doltra A, Arbelo E, Sarquella-Brugada G, Iglesias A, Alonso-Pulpon L, Brugada J, Brugada R.

PLoS One. 2014 Jun 26;9(6):e100560. doi: 10.1371/journal.pone.0100560. eCollection 2014.

16.

Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.

Rasmussen TB, Nissen PH, Palmfeldt J, Gehmlich K, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J.

Circ Cardiovasc Genet. 2014 Jun;7(3):230-40. doi: 10.1161/CIRCGENETICS.113.000338. Epub 2014 Apr 4.

17.

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.

Li Mura IE, Bauce B, Nava A, Fanciulli M, Vazza G, Mazzotti E, Rigato I, De Bortoli M, Beffagna G, Lorenzon A, Calore M, Dazzo E, Nobile C, Mostacciuolo ML, Corrado D, Basso C, Daliento L, Thiene G, Rampazzo A.

Eur J Hum Genet. 2013 Nov;21(11):1226-31. doi: 10.1038/ejhg.2013.39. Epub 2013 Mar 13.

18.

Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?

Groeneweg JA, van der Zwaag PA, Jongbloed JD, Cox MG, Vreeker A, de Boer RA, van der Heijden JF, van Veen TA, McKenna WJ, van Tintelen JP, Dooijes D, Hauer RN.

Heart Rhythm. 2013 Apr;10(4):548-59. doi: 10.1016/j.hrthm.2012.12.020. Epub 2012 Dec 25.

PMID:
23270881
19.

Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.

van der Smagt JJ, van der Zwaag PA, van Tintelen JP, Cox MG, Wilde AA, van Langen IM, Ummels A, Hennekam FA, Dooijes D, Gerbens F, Bikker H, Hauer RN, Doevendans PA.

Cardiology. 2012;123(3):181-9. doi: 10.1159/000342717. Epub 2012 Nov 7.

PMID:
23147395
20.

A novel variant in plakophilin-2 gene detected in a family with arrhythmogenic right ventricular cardiomyopathy.

Ostrowska Dahlgren B, Allen M, Lindström AC, Bjerke M, Blomström-Lundqvist C.

J Interv Card Electrophysiol. 2012 Jun;34(1):11-8. doi: 10.1007/s10840-011-9643-4. Epub 2011 Dec 15.

PMID:
22170284

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