(Q24313070)

GOA release 2020-03-11

author name string

A M Muñoz-Mármol

1

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G Strasser

2

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M Isamat

3

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P A Coulombe

4

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Y Yang

5

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X Roca

6

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E Vela

7

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J L Mate

8

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J Coll

9

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M T Fernández-Figueras

10

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J J Navas-Palacios

11

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A Ariza

12

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E Fuchs

Proceedings of the National Academy of Sciences of the United States of America

13

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language of work or name

English

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publication date

15 September 1998

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published in

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volume

95

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issue

19

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page(s)

11312-7

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cites work

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Immunological characterization of the subunit of the 100 A filaments from muscle cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Use of bacteriophage T7 RNA polymerase to direct selective high-level expression of cloned genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Intermediate filaments: structure, dynamics, function, and disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

A Structural Scaffolding of Intermediate Filaments in Health and Disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

The roles of the rod end and the tail in vimentin IF assembly and IF network formation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Truncated desmin in PtK2 cells induces desmin-vimentin-cytokeratin coprecipitation, involution of intermediate filament networks, and nuclear fragmentation: a model for many degenerative diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

The amino acid sequence of chicken muscle desmin provides a common structural model for intermediate filament proteins.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Elucidating the early stages of keratin filament assembly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Desmin-related myopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Cardiovascular lesions and skeletal myopathy in mice lacking desmin

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

The structure of the vimentin gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Assembly of amino-terminally deleted desmin in vimentin-free cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Biochemical and structural aspects of transiently and stably expressed mutant desmin in vimentin-free and vimentin-containing cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Identification of a nonapeptide motif in the vimentin head domain involved in intermediate filament assembly

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21639

Mechanical alterations in smooth muscle from mice lacking desmin.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.95.19.11312

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.95.19.11312

Desmin organization during the differentiation of the dorsal myotome in Xenopus laevis.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.95.19.11312

The synthesis and distribution of desmin and vimentin during myogenesis in vitro

21 January 2018

1 reference

12 December 2020

Desmin- and vimentin-containing filaments and their role inthe assembly of the Z disk in muscle cells

1 reference

12 December 2020

Myopathy associated with desmin type intermediate filaments. An immunoelectron microscopic study

1 reference

12 December 2020

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

1 reference

12 December 2020

Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle

1 reference

12 December 2020

Desmin sequence elements regulating skeletal muscle-specific expression in transgenic mice

1 reference

12 December 2020

Familial desmin myopathies and cytoplasmic body myopathies

1 reference

12 December 2020

Muscle-specific expression of a dominant negative desmin mutant in transgenic mice

1 reference

12 December 2020

Spheroid body myopathy revisited

1 reference

12 December 2020

Assembly of carboxy-terminally deleted desmin in vimentin-free cells

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.95.19.11312

1 reference

ADS bibcode

1998PNAS...9511312M

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1 reference

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PubMed publication ID

9736733

1 reference