Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy (Q52162402)

25 April 2018

http://europepmc.org/abstract/MED/16247757

title

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy (English)

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25 April 2018

http://europepmc.org/abstract/MED/16247757

main subject

dilated cardiomyopathy

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20

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http://europepmc.org/abstract/MED/16247757

Josef Gotzmann

Josef Gotzmann

18

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Gianfranco Sinagra

Gianfranco Sinagra

9

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Roland Foisner

19

Roland Foisner

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http://europepmc.org/abstract/MED/16247757

Pamela R Fain

6

Pamela R Fain

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Sylvia Vlcek

4

Sylvia Vlcek

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Andreas Gajewski

3

Andreas Gajewski

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author name string

Matthew R G Taylor

1

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http://europepmc.org/abstract/MED/16247757

Dobromir Slavov

2

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Lisa Ku

5

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Elisa Carniel

7

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Andrea Di Lenarda

8

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Mark M Boucek

10

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http://europepmc.org/abstract/MED/16247757

Jean Cavanaugh

11

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Sharon L Graw

12

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http://europepmc.org/abstract/MED/16247757

Patsy Ruegg

13

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http://europepmc.org/abstract/MED/16247757

Jennie Feiger

14

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http://europepmc.org/abstract/MED/16247757

Xiao Zhu

15

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http://europepmc.org/abstract/MED/16247757

Debra A Ferguson

16

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http://europepmc.org/abstract/MED/16247757

Michael R Bristow

17

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Familial Cardiomyopathy Registry Research Group

21

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http://europepmc.org/abstract/MED/16247757

publication date

1 December 2005

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25 April 2018

http://europepmc.org/abstract/MED/16247757

published in

Human Mutation

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25 April 2018

http://europepmc.org/abstract/MED/16247757

volume

26

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issue

6

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http://europepmc.org/abstract/MED/16247757

page(s)

566-574

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http://europepmc.org/abstract/MED/16247757

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The characterization and localization of the mouse thymopoietin/lamina-associated polypeptide 2 gene and its alternatively spliced products

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

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7 January 2021

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

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7 January 2021

Life at the edge: the nuclear envelope and human disease

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Detergent-salt resistance of LAP2alpha in interphase nuclei and phosphorylation-dependent association with chromosomes early in nuclear assembly implies functions in nuclear structure dynamics.

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7 January 2021

Review: lamina-associated polypeptide 2 isoforms and related proteins in cell cycle-dependent nuclear structure dynamics

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7 January 2021

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

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7 January 2021

Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy

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7 January 2021

Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation

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7 January 2021

A phosphorylation cluster in the chromatin-binding region regulates chromosome association of LAP2alpha

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7 January 2021

Roles of LAP2 proteins in nuclear assembly and DNA replication: truncated LAP2beta proteins alter lamina assembly, envelope formation, nuclear size, and DNA replication efficiency in Xenopus laevis extracts

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7 January 2021

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7 January 2021

The nuclear lamina and its functions in the nucleus

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7 January 2021

Three distinct human thymopoietins are derived from alternatively spliced mRNAs

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7 January 2021

Structure and mapping of the human thymopoietin (TMPO) gene and relationship of human TMPO beta to rat lamin-associated polypeptide 2

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7 January 2021

Intermediate filaments: novel assembly models and exciting new functions for nuclear lamins

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7 January 2021

The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin

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7 January 2021

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7 January 2021

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

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7 January 2021

Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

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7 January 2021

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7 January 2021

Ubiquitous expression of a cloned murine thymopoietin cDNA.

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7 January 2021

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7 January 2021

Distinct functions of the unique C terminus of LAP2alpha in cell proliferation and nuclear assembly

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7 January 2021

Lco1 is a novel widely expressed lamin-binding protein in the nuclear interior

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20250

1 reference

25 April 2018

http://europepmc.org/abstract/MED/16247757

1 reference

25 April 2018