(Q79711946)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

alternative mRNA splicing, via spliceosome

25 December 2019

main subject

1 reference

inferred from title

epidermolysis bullosa

1 reference

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Daisuke Sawamura

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Maki Goto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Kaori Sakai

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Hideki Nakamura

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

James R McMillan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Masashi Akiyama

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Osamu Shirado

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Masataka Satoh

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Fumio Kaneko

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Toshiaki Takahashi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Hidehiko Konno

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Hiroshi Shimizu

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

language of work or name

English

0 references

publication date

1 February 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

Journal of Investigative Dermatology

25 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

1537-1540

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273164%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.jid.5700707

25 December 2019

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

Current insights into the formation and breakdown of hemidesmosomes.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

Mutation analysis and molecular genetics of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

Plectin 5'-transcript diversity: short alternative sequences determine stability of gene products, initiation of translation and subcellular localization of isoforms

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021

Identification of the cytolinker protein plectin in neuronal cells - expression of a rodless isoform in neurons of the rat superior cervical ganglion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700707

7 January 2021