(Q24309219)

GOA release 2020-03-11

author

Sebahattin Çırak

5

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Haluk Topaloglu

7

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author name string

Hulya Gundesli

1

0 references

Beril Talim

2

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Petek Korkusuz

3

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Burcu Balci-Hayta

4

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Nurten A Akarsu

6

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Pervin Dincer

American Journal of Human Genetics

8

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language of work or name

English

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publication date

10 December 2010

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published in

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volume

87

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issue

6

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page(s)

834-41

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cites work

ALX4 dysfunction disrupts craniofacial and epidermal development

1 reference

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Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation

19 March 2017

1 reference

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Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

Plectin 1 links intermediate filaments to costameric sarcolemma through beta-synemin, alpha-dystrobrevin and actin

19 March 2017

1 reference

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Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

Role of plectin in cytoskeleton organization and dynamics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia

19 March 2017

1 reference

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How to go about diagnosing and managing the limb-girdle muscular dystrophies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

Plectin isoform 1b mediates mitochondrion-intermediate filament network linkage and controls organelle shape

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

Plectin-isoform-specific rescue of hemidesmosomal defects in plectin (-/-) keratinocytes

27 September 2017

1 reference

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Plectin transcript diversity: identification and tissue distribution of variants with distinct first coding exons and rodless isoforms

27 September 2017

1 reference

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Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy

27 September 2017

1 reference

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Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

27 September 2017

1 reference

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Limb–girdle muscular dystrophies

29 November 2018

1 reference

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Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.

29 November 2018

1 reference

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Unusual 5' transcript complexity of plectin isoforms: novel tissue-specific exons modulate actin binding activity.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997373

Plectin abnormality in epidermolysis bullosa simplex Ogna: non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies

29 November 2018

1 reference

12 December 2020

Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia

1 reference

12 December 2020

Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol 19. No 1 January 2009

1 reference

12 December 2020

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy

1 reference

12 December 2020

10.1016/J.AJHG.2010.10.017

Identifiers

DOI

1 reference

1881482

1881482

1 reference

1 reference

1 reference