(Q28237209)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

congenital ichthyosiform erythroderma

22 January 2020

main subject

congenital disorder

0 references

0 references

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

Kaori Sakai

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Masashi Akiyama

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

James R McMillan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Tamio Suzuki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Katsuhiko Tsukamoto

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Hideaki Sugiyama

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Yuji Hatano

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Michiko Hayashitani

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Kenji Takamori

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Keiko Nakashima

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Hiroshi Shimizu

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

language of work or name

English

0 references

publication date

5 March 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

Journal of Investigative Dermatology

22 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

129

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

issue

9

1 reference

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22 January 2020

page(s)

2306-2309

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms

22 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

An update on molecular aspects of the non-syndromic ichthyoses

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

A novel in situ method for the detection of deficient transglutaminase activity in the skin

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Molecular genetics of the ichthyoses

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

ABCA12 is the major harlequin ichthyosis gene

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.23

7 January 2021

Identifiers

DOI

10.1038/JID.2009.23

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19262603%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 January 2020

1042821971

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017