plakophilin

プラコフィリン

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/07/08 22:18:14」(JST)

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Plakophilin are proteins of the cytoskeleton.

Genes include:

• PKP1
• PKP2

See also

• List of conditions caused by problems with junctional proteins

References

UpToDate Contents

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• 1. 不整脈原性右室心筋症：解剖学、組織学、病因、および遺伝学 arrhythmogenic right ventricular cardiomyopathy anatomy histology pathogenesis and genetics
• 2. 表皮水疱症の疫学、病因、分類、および臨床的特徴 epidemiology pathogenesis classification and clinical features of epidermolysis bullosa

English Journal

• Plakophilin-2 loss promotes TGF-β1/p38 MAPK-dependent fibrotic gene expression in cardiomyocytes.

• Dubash AD1, Kam CY2, Aguado BA3, Patel DM2, Delmar M4, Shea LD5, Green KJ6.
• The Journal of cell biology.J Cell Biol.2016 Feb 15;212(4):425-38. doi: 10.1083/jcb.201507018. Epub 2016 Feb 8.
• Members of the desmosome protein family are integral components of the cardiac area composita, a mixed junctional complex responsible for electromechanical coupling between cardiomyocytes. In this study, we provide evidence that loss of the desmosomal armadillo protein Plakophilin-2 (PKP2) in cardio
• PMID 26858265

• Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis.

• Kennedy JC1, Khabibullin D1, Henske EP2.
• Seminars in cell & developmental biology.Semin Cell Dev Biol.2016 Feb 10. pii: S1084-9521(16)30056-8. doi: 10.1016/j.semcdb.2016.02.014. [Epub ahead of print]
• Loss-of-function mutations in the folliculin gene (FLCN) on chromosome 17p cause Birt-Hogg-Dube syndrome (BHD), which is associated with cystic lung disease. The risk of lung collapse (pneumothorax) in BHD patients is 50-fold higher than in the general population. The cystic lung disease in BHD is d
• PMID 26877139

• Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.

• Asimaki A1, Protonotarios A1, James CA1, Chelko SP1, Tichnell C1, Murray B1, Tsatsopoulou A1, Anastasakis A1, Te Riele A1, Kléber AG1, Judge DP1, Calkins H1, Saffitz JE2.
• Circulation. Arrhythmia and electrophysiology.Circ Arrhythm Electrophysiol.2016 Feb;9(2):e003688. doi: 10.1161/CIRCEP.115.003688.
• BACKGROUND: Analysis of myocardium has revealed mechanistic insights into arrhythmogenic cardiomyopathy but cardiac samples are difficult to obtain from probands and especially from family members. To identify a potential surrogate tissue, we characterized buccal mucosa cells.METHODS AND RESULTS: Bu
• PMID 26850880

Japanese Journal

• Compound and Digenic Heterozygosity in Desmosome Genes as a Cause of Arrhythmogenic Right Ventricular Cardiomyopathy in Japanese Patients

• NAKAJIMA Tadashi,KANEKO Yoshiaki,IRIE Tadanobu,TAKAHASHI Rieko,KATO Toshimitsu,IIJIMA Takafumi,ISO Tatsuya,KURABAYASHI Masahiko
• Circulation journal : official journal of the Japanese Circulation Society 76(3), 737-743, 2012-02-25
• … Genetic screening for major ARVC-causing genes (junction plakoglobin, desmoplakin, plakophilin-2 (PKP2), desmoglein-2 (DSG2), and desmocollin-2) was performed. …
• NAID 10030130444

• PKP2 Mutations in Sudden Death From Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and Sudden Unexpected Death With Negative Autopsy (SUDNA)

• ZHANG Mingchang,TAVORA Fabio,OLIVEIRA Joao Bosco,LI Ling,FRANCO Marcello,FOWLER David,ZHAO Ziqin,BURKE Allen
• Circulation journal : official journal of the Japanese Circulation Society 76(1), 189-194, 2011-12-25
• … Background: Plakophilin2 (PKP2) is a desmosome-related protein with numerous armadillo repeats and has been linked to arrhythmogenic right ventricular cardiomyopathy (ARVC). …
• NAID 10030034678

• Plakophilin-2 Gene Could Be a Causative Factor in Arrhythmogenic Right Ventricular Cardiomyopathy

• ADACHI Susumu,ISOBE Mitsuaki
• Circulation journal : official journal of the Japanese Circulation Society 76(1), 51-52, 2011-12-25
• NAID 10030034090