PKP2 Gene

Aliases
for PKP2 gene

Previous GC identifers: GC12M033434 GC12M033020 GC12M032844 GC12M032835 GC12M032834 GC12M032696

Summaries
for PKP2 gene

Genomic Views
for PKP2 gene

RefSeq DNA sequence:

NC_000012.11  NC_018923.1  NT_009714.17  

SwitchGear Promoter luciferase reporter plasmid: PKP2 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKP2

PKP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M032943:  view genomic region     (about GC identifiers)

Proteins
for PKP2 gene

1 PDB 3D structure from and Proteopedia for PKP2:

3TT9 (3D)    

Explore the universe of human proteins at neXtProt for PKP2: NX_Q99959

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: PKP2 OriGene Custom Protein Services for PKP2
	GenScript Custom Purified and Recombinant Proteins Services for PKP2
	Novus Biologicals PKP2 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PKP2

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PKP2
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for PKP2
	GenScript Custom Superior Antibodies Services for PKP2
	Novus Biologicals PKP2 Antibodies
	Search for Antibodies for PKP2 at Abcam
	Uscn Antibodies for PKP2
	Search ThermoFisher Antibodies for PKP2

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PKP2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PKP2

Protein Domains /
Families
for PKP2 gene

ProtoNet protein and cluster: Q99959

Function
for PKP2 gene

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PKP2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PKP2
		8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate PKP2 (see all 15):
		hsa-miR-516b hsa-miR-181c hsa-miR-513a-3p hsa-miR-509-5p hsa-miR-181a hsa-miR-181d hsa-miR-7 hsa-miR-889
		SwitchGear 3'UTR luciferase reporter plasmid: PKP2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKP2 (see all 7) OriGene shRNA RFP: PKP2 OriGene siRNA: PKP2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PKP2

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for PKP2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKP2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKP2 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): PKP2 (NM_004572)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PKP2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PKP2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PKP2
		Search LifeMap BioReagents cell lines for PKP2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP2

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

(inferred from 1 allele) (MGI details for Pkp2)

Pathways & Interactions
for PKP2 gene

	Super-pathway	contained gene-specific pathways
1	Arrhythmogenic right ventricular cardiomyopathy (ARVC)	Arrhythmogenic right ventricular cardiomyopathy (ARVC) 1.00 Arrhythmogenic right ventricular cardiomyopathy 0.99
2	Cytoskeleton remodeling Keratin filaments	Cytoskeleton remodeling Keratin filaments 1.00 Cytoskeleton remodeling_Keratin filaments 0.91

1 EMD Millipore Pathway for PKP2

Cytoskeleton remodeling Keratin filaments

1 GeneGo (Thomson Reuters) Pathway for PKP2

Cytoskeleton remodeling Keratin filaments

1 BioSystems Pathway for PKP2

Arrhythmogenic right ventricular cardiomyopathy

1         Kegg Pathway  (Kegg details for PKP2)

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

Drugs & Compounds
for PKP2 gene

Transcripts
for PKP2 gene

Expression
for PKP2 gene

PKP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGAAGAAGA

1 LifeMap In Vivo Development Anatomical Compartment/Cell
	Tissue Anatomical Compartment Cell			Category (developmental path)
	BoneZeugopod Periosteum			Bone
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 2 LifeMap Cells
	Name			Category
	PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)			Lateral Plate Mesoderm, Neural Crest
	PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKP2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PKP2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PKP2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKP2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP2

Orthologs
for PKP2 gene

Paralogs
for PKP2 gene

Paralogs for PKP2 gene

CTNND1²  PKP1²  PKP3²  CTNND2²  ARVCF²  PKP4²  

6 SIMAP similar genes for PKP2 using alignment to 6 protein entries:     PKP2_HUMAN (see all proteins):

PFKM    BIRC5    DKFZp666K083    OK/SW-cl.18    HLA-DRB1    PKP1

PKP2 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for PKP2
PGOHUM00000239632

Genomic Variants
for PKP2 gene

10/1880 NCBI SNPs in PKP2 are shown (see all 1880)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1461022411,2	C,F,	probable-non-pathogenic	36556198(+)	ATGGAC/TCAGTG	4	I V	mis1		2		NA EU	5873
rs1856818141,2	C,	unknown	36501391(+)	GTTACA/CTTCTT	2	--	int1		0	--	--	--	--
rs1512124771,2	C	other	36537084(+)	GTCTCG/AAACTC	3	/R /*	int1 stg1		1		NA	2972
rs10461541,2		--	32696269(-)	CTGATG/TATAAG	2	--	ut31 ese3		3		NA	124
rs1125479241,2		--	32696438(+)	CAAAAT/ATTATT	2	--	ut31		1		CSA	2
rs123147961,2	C,F,H,	--	32696561(+)	TAACTC/GTATAT	2	--	ut31		5		NS EA NA	540
rs785406321,2		--	32697550(+)	CCACAT/CGAATT	2	--	ut31		1		NA	120
rs779883821,2		--	32697629(+)	TGGCCA/GGTATC	2	--	ut31		1		CSA	1
rs1134935461,2	C,F,	--	32697959(+)	ATGCAG/TTTTTT	2	--	int1		4		WA NA	242
rs64880931,2	C,F,A,	--	32699066(+)	tggagT/Cgatct	2	--	int1		4		NA WA	8

HapMap Linkage Disequilibrium report for PKP2 (32943679 - 33049780 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for PKP2
     2 CNVs: 49057 101474
     3 Indels: 25000 42158 61223
Human Gene Mutation Database (HGMD): PKP2

Locus Specific Mutation Databases (LSDB): PKP2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKP2

DNA2.0 Custom Variant and Variant Library Synthesis for PKP2

Disorders / Diseases
for PKP2 gene

16 diseases for PKP2

6 Novoseek disease relationships for PKP2 gene    About this table

Publications
for PKP2 gene

PubMed articles for PKP2 gene integrated from 9 sources (see top 10): (articles sorted by number of sources associating them with PKP2)

Utopia: connect your pdf to the dynamic world of online information

1. Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. (PubMed id 8922383)^{1, 2, 3, 9} Mertens C.... Franke W.W. (1996)
2. Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystande rs? (PubMed id 19955750)^{1, 2, 9} Christensen A.H....Svendsen J.H. (2010)
3. Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues. (PubMed id 10374264)^{1, 2, 9} Mertens C.... Franke W.W. (1999)
4. Comprehensive desmosome mutation analysis in north am ericans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)^{1, 2, 9} den Haan A.D....Judge D.P. (2009)
5. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. (PubMed id 15489853)^{1, 2, 9} Gerull B....Thierfelder L. (2004)
6. Role of genetic testing in arrhythmogenic right ventr icular cardiomyopathy/dysplasia. (PubMed id 19863551)^{1, 2} Barahona-Dussault C....Brugada R. (2010)
7. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 17010805)^{1, 9} Dalal D....Judge D.P. (2006)
8. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 16567567)^{1, 9} van Tintelen J.P....Hauer R.N. (2006)
9. Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy. (PubMed id 17521752)^{1, 9} Lahtinen A.M....Kontula K. (2008)
10. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. (PubMed id 17041889)^{1, 9} Awad M.M....Judge D.P. (2006)
11. Upregulation of plakophilin-2 and its acquisition to adherens junctions identifies a novel molecular ensemble of cell-cell-attachmen t characteristic for transformed mesenchymal cells. (PubMed id 19551809)^{1, 9} Rickelt S....Franke W.W. (2009)
12. Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 19427443)^{1, 9} Qiu X....Zhang L. (2009)
13. Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family. (PubMed id 16876743)^{1, 9} Kannankeril P.J....Roden D.M. (2006)
14. Functional analysis of C-TAK1 substrate binding and identification of PKP2 as a new C-TAK1 substrate. (PubMed id 12941695)^{1, 9} Muller J....Morrison D.K. (2003)
15. Desmoglein-2 and desmocollin-2 mutations in dutch arr hythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (PubMed id 20031616)^{1, 9} Bhuiyan Z.A....van Tintelen J.P. (2009)
16. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. (PubMed id 16415378)^{1, 9} Syrris P....McKenna W.J. (2006)
17. Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy. (PubMed id 19302745)^{1, 9} Wu S.L....Deng M. (2009)
18. Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2. (PubMed id 11416169)^{1, 9} Mertens C....Franke W.W. (2001)
19. Clinical features, survival experience, and profile o f plakophylin-2 gene mutations in participants of the arrhythmogenic right vent ricular cardiomyopathy registry of South Africa. (PubMed id 19880068)^{1, 9} Watkins D.A....Mayosi B.M. (2009)
20. Plakophilin 2: a critical scaffold for PKC alpha that regulates intercellular junction assembly. (PubMed id 18474624)^{1, 9} Bass-Zubek A.E....Green K.J. (2008)
21. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. (PubMed id 16549640)^{1, 9} Dalal D....Judge D.P. (2006)
22. Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization. (PubMed id 10828611)^{1, 9} Bonne S....van Roy F. (2000)
23. Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis. (PubMed id 10852826)^{1, 9} Hofmann I....Herrmann H. (2000)
24. Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations. (PubMed id 18632414)^{1, 9} Yu C.C....Lai L.P. (2008)
25. Plakophilin 3 -- a novel cell-type-specific desmosomal plaque protein. (PubMed id 10374265)^{1, 9} Schmidt A....Franke W.W. (1999)
26. Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily. (PubMed id 9721216)^{1, 9} Bonne S....van Roy F. (1998)
27. Novel plakophilin2 mutation: three-generation family w ith arrhythmogenic right ventricular cardiomyopathy. (PubMed id 22035158)¹ Aneq M.A....Gunnarsson C. (2012)
28. Up-regulation of plakophilin-2 and Down-regulation of plakophilin-3 are correlated with invasiveness in bladder cancer. (PubMed id 22119253)¹ Takahashi H....Kanayama H. (2012)
29. PKP2 mutations in sudden death from arrhythmogenic rig ht ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative a utopsy (SUDNA). (PubMed id 22019812)¹ Zhang M....Burke A. (2012)
30. A novel variant in plakophilin-2 gene detected in a fa mily with arrhythmogenic right ventricular cardiomyopathy. (PubMed id 22170284)¹ Ostrowska Dahlgren B....Blomstrom-Lundqvist C. (2012)
31. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
32. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
33. Mechanistic insights into arrhythmogenic right ventri cular cardiomyopathy caused by desmocollin-2 mutations. (PubMed id 21062920)² Gehmlich K....McKenna W.J. (2011)
34. Plakophilin 2A is the dominant isoform in human heart tissue: consequences for the genetic screening of arrhythmogenic right ventric ular cardiomyopathy. (PubMed id 21378009)¹ Gandjbakhch E....Villard E. (2011)
35. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
36. Plakophilin 2 couples actomyosin remodeling to desmos omal plaque assembly via RhoA. (PubMed id 20554761)¹ Godsel L.M....Green K.J. (2010)
37. Arrhythmogenic right ventricular dysplasia/cardiomyop athy diagnostic task force criteria: impact of new task force criteria. (PubMed id 20215590)¹ Cox M.G....Hauer R.N. (2010)
38. Desmosomal gene analysis in arrhythmogenic right vent ricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. (PubMed id 20400443)¹ Fressart V....Charron P. (2010)
39. A novel kind of tumor type-characteristic junction: p lakophilin-2 as a major protein of adherens junctions in cardiac myxomata. (PubMed id 20693980)¹ Rickelt S....Franke W.W. (2010)
40. Wide spectrum of desmosomal mutations in Danish patie nts with arrhythmogenic right ventricular cardiomyopathy. (PubMed id 20864495)¹ Christensen A.H....Svendsen J.H. (2010)
41. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
42. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
43. Arrhythmogenic right ventricular cardiomyopathy plako philin-2 mutations disrupt desmosome assembly and stability. (PubMed id 19533476)¹ Hall C....Wahl J.K. (2009)
44. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)² Oppermann F.S.... Daub H. (2009)
45. Abnormal connexin43 in arrhythmogenic right ventricul ar cardiomyopathy caused by plakophilin-2 mutations. (PubMed id 18662195)¹ Fidler L.M....Hamilton R.M. (2009)
46. Arrhythmogenic right ventricular dysplasia. (PubMed id 18596851)¹ Calkins H. (2008)
47. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)² Daub H.... Mann M. (2008)
48. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
49. Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations. (PubMed id 19084810)¹ Joshi-Mukherjee R....Delmar M. (2008)
50. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
51. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)² Matsuoka S.... Elledge S.J. (2007)
52. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)² Scherer S.E.... Gibbs R.A. (2006)
53. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
54. Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer. (PubMed id 15778465)¹ Benzinger A.... Hermeking H. (2005)
55. Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. (PubMed id 15324660)¹ Jin J....Pawson T. (2004)
56. Functional proteomics mapping of a human signaling pathway. (PubMed id 15231748)¹ Colland F....Gauthier J.M. (2004)
57. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
58. Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling. (PubMed id 11790773)¹ Chen X....Green K.J. (2002)
59. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
60. Arrhythmogenic Right Ventricular D ysplasia/Cardiomyopathy, Autosomal Dominant (PubMed id 20301310)¹ McNally E....Dellefave L. (1993)
61. Loss of plakophilin-2 expression leads to decreased s odium current and slower conduction velocity in cultured cardiac myocytes. (PubMed id 19661460)⁹ Sato P.Y....Delmar M. (2009)
62. Novel mutation of plakophilin-2 associated with arrhythmogenic right ventricular cardiomyopathy. (PubMed id 16799251)⁹ Nagaoka I....Horie M. (2006)
63. The area composita of adhering junctions connecting heart muscle cells of vertebrates. V. The importance of plakophilin-2 demonstrated by small interference RNA-mediated knockdown in cultured rat cardiomyocytes. (PubMed id 18261826)⁹ Pieperhoff S....Franke W.W. (2008)
64. Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis. (PubMed id 16893920)⁹ Antoniades L....Protonotarios N. (2006)
65. Immunohistochemical localization of plakophilins (PKP1, PKP2, PKP3, and p0071) in primary oropharyngeal tumors: correlation with clinical parameters. (PubMed id 12827610)⁹ Papagerakis S....Forest N. (2003)
66. Compound and digenic heterozygosity contributes to ar rhythmogenic right ventricular cardiomyopathy. (PubMed id 20152563)⁹ Xu T....Towbin J.A. (2010)
67. Gene expression in canine atopic dermatitis and corre lation with clinical severity scores. (PubMed id 19394200)⁹ Wood S.H....Carter S.D. (2009)
68. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. (PubMed id 16505173)⁹ Pilichou K....Rampazzo A. (2006)
69. Genetic association analysis of coronary heart disease by profiling gene-environment interaction based on latent components in longi tudinal endophenotypes. (PubMed id 20018082)⁹ Gu C.C....DA!vila-RomA!n V.G. (2009)
70. Gap junction remodeling in a case of arrhythmogenic right ventricular dysplasia due to plakophilin-2 mutation. (PubMed id 18554203)⁹ Tandri H....Calkins H. (2008)
71. Plakophilin-2 mutations as a cause of arrhythmogenic right ventricular cardiomyopathy: progress toward linking structural with functional changes. (PubMed id 19084811)⁹ Ram R. and Van Wagoner D.R. (2008)
72. Arrhythmogenic right ventricular cardiomyopathy: asymptomatic to life threatening as illustrated by the cases of two sisters. (PubMed id 18167567)⁹ Otterspoor L.C....Hauer R.N. (2007)
73. Molecular composition of the intercalated disc in a s pontaneous canine animal model of arrhythmogenic right ventricular dysplasia/ca rdiomyopathy. (PubMed id 17765621)⁹ Oxford E.M....Delmar M. (2007)
74. De novo formation of desmosomes in cultured cells upon transfection of genes encoding specific desmosomal components. (PubMed id 12681292)⁹ Koeser J....Franke W.W. (2003)
75. (PubMed id 19018379)⁹ 
76. Multiple mutations in desmosomal proteins encoding ge nes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PubMed id 20129281)⁹ Bauce B....Rampazzo A. (2010)
77. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare 'disease of the desmosome' with multiple clinical presentations. (PubMed id 19205777)⁹ Herren T....Duru F. (2009)
78. Cordial connections: molecular ensembles and structur es of adhering junctions connecting interstitial cells of cardiac valves in sit u and in cell culture. (PubMed id 19475424)⁹ Barth M....Franke W.W. (2009)
79. A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle. (PubMed id 19016676)⁹ Simpson M.A....Crosby A.H. (2009)
80. QRS fragmentation in standard ECG as a diagnostic marker of arrhythmogenic right ventricular dysplasia-cardiomyopathy. (PubMed id 18783995)⁹ Peters S....Koehler B. (2008)
81. Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon? (PubMed id 17413274)⁹ van Tintelen J.P....Jongbloed J.D. (2007)
82. Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort. (PubMed id 17556197)⁹ Koopmann T.T....Bezzina C.R. (2007)
83. Alteration of adhesion molecule expression and cellular polarity in hepatocellular carcinoma. (PubMed id 17880531)⁹ Cao Y....Fan X.N. (2007)
84. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 16917092)⁹ Yang Z....Towbin J.A. (2006)
85. Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies. (PubMed id 16774985)⁹ Basso C....Rampazzo A. (2006)
86. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. (PubMed id 17033975)⁹ Syrris P.... McKenna W.J. (2006)
87. The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins. (PubMed id 16406610)⁹ Franke W.W....Pieperhoff S. (2006)
88. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a role for viruses? (PubMed id 16414451)⁹ Calabrese F....Thiene G. (2006)
89. Arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 16283974)⁹ Prakasa K.R. and Calkins H. (2005)
90. Human hair abnormalities resulting from inherited desmosome gene mutations. (PubMed id 16077256)⁹ McGrath J.A. and Wessagowit V. (2005)
91. Inherited disorders of desmosomes. (PubMed id 16197419)⁹ McGrath J.A. (2005)
92. Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). (PubMed id 15851108)⁹ Kaplan S.R....Saffitz J.E. (2004)
93. Expression of desmosomal proteins in squamous cell carcinomas of the skin. (PubMed id 14744087)⁹ Kurzen H....Hartschuh W. (2003)
94. Molecular characterization of desmosomes in meningiomas and arachnoidal tissue. (PubMed id 12845453)⁹ Akat K....Kartenbeck J. (2003)
95. Loss of cell adhesion in Dsg3bal-Pas mice with homozygous deletion mutation (2079del14) in the desmoglein 3 gene. (PubMed id 12485423)⁹ Pulkkinen L....Mahoney M.G. (2002)
96. Compositionally different desmosomes in the various compartments of the human hair follicle. (PubMed id 9810708)⁹ Kurzen H....Franke W.W. (1998)

External Searches for PKP2 gene

Genome Databases showing PKP2 gene

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for PKP2 gene