Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations (Q24292940)

GOA release 2020-03-11

junction plakoglobin

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GOA release 2020-03-11

Plakophilin 2

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GOA release 2020-03-11

author

Udo Heinemann

8

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Gunnar Dittmar

object named as

Gunnar Dittmar

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Wilhelm Haverkamp

6

object named as

Wilhelm Haverkamp

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author name string

Florian Kirchner

1

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Anja Schuetz

2

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Leif-Hendrik Boldt

3

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Kristina Martens

4

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Ludwig Thierfelder

7

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Brenda Gerull

Circulation: Cardiovascular Genetics

9

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language of work or name

English

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publication date

1 August 2012

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published in

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volume

5

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issue

4

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page(s)

400-11

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cites work

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A repeating amino acid motif shared by proteins with diverse cellular roles

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Plakophilins: Multifunctional proteins or just regulators of desmosomal adhesion?

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Calpains in muscle wasting.

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Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations

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A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions

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Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

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Structure of the armadillo repeat domain of plakophilin 1

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Three-dimensional structure of the armadillo repeat region of beta-catenin

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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

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A method and server for predicting damaging missense mutations

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A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

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HL-1 cells: a cardiac muscle cell line that contracts and retains phenotypic characteristics of the adult cardiomyocyte

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Arrhythmogenic right ventricular cardiomyopathy plakophilin-2 mutations disrupt desmosome assembly and stability

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Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque

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Regulating cell migration: calpains make the cut.

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Identifiers

DOI

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Fatcat ID

release_bij2crpg6nc6hbszrlhtzmhre4

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bij2crpg6nc6hbszrlhtzmhre4

24 November 2022