(Q24600655)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

main subject

palmoplantar keratosis

1 reference

1

1 reference

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29 February 2020

Kenji Kabashima

25

1 reference

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29 February 2020

Masayuki Amagai

27

1 reference

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29 February 2020

8

Atsushi Shimizu

1 reference

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29 February 2020

19

Jun Kudoh

1 reference

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29 February 2020

2

Aiko Shiohama

1 reference

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29 February 2020

4

Kazuhiko Nakabayashi

1 reference

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29 February 2020

6

Toru Atsugi

1 reference

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29 February 2020

7

Showbu Sato

1 reference

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29 February 2020

10

Hideaki Tanizaki

1 reference

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29 February 2020

12

Tatsuo Maeda

1 reference

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29 February 2020

13

Taisuke Ito

1 reference

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29 February 2020

14

Jun-ichi Sakabe

1 reference

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29 February 2020

18

Kenjiro Kosaki

1 reference

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29 February 2020

20

Kenichiro Hata

1 reference

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29 February 2020

23

Akira Ishiko

1 reference

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29 February 2020

26

Yoshihiko Mitsuhashi

1 reference

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29 February 2020

22

Yoshiki Tokura

1 reference

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29 February 2020

author name string

Takashi Sasaki

3

1 reference

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29 February 2020

Hiroshi Kawasaki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Shuji Mikami

9

1 reference

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29 February 2020

Masaki Uchiyama

11

1 reference

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29 February 2020

Toshio Heike

15

1 reference

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29 February 2020

Torayuki Okuyama

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Rika Kosaki

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Akihiro Umezawa

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Hironori Niizeki

24

1 reference

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29 February 2020

language of work or name

English

0 references

publication date

24 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 February 2020

published in

1 reference

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29 February 2020

volume

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

5

1 reference

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29 February 2020

page(s)

945-956

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json

An integrated map of genetic variation from 1,092 human genomes

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

An overview of the serpin superfamily

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Mutations in the gene encoding SLURP-1 in Mal de Meleda

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

A mesangium-predominant gene, megsin, is a new serpin upregulated in IgA nephropathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Serpin structure, mechanism, and function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Association between conformational mutations in neuroserpin and onset and severity of dementia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

SASPase regulates stratum corneum hydration through profilaggrin-to-filaggrin processing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Frequency of aquagenic palmoplantar keratoderma in cystic fibrosis: a new sign of cystic fibrosis?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Reddish, scaly, and itchy: how proteases and their inhibitors contribute to inflammatory skin 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=3824127

Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Neutral cysteine protease bleomycin hydrolase is essential for the breakdown of deiminated filaggrin into amino acids

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Two families with Greither's syndrome caused by a keratin 1 mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Keratosis extremitatum hereditaria progrediens with genetic dominant

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Human clade B serpins (ov-serpins) belong to a cohort of evolutionarily dispersed intracellular proteinase inhibitor clades that protect cells from promiscuous proteolysis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Phylogeny of the serpin superfamily: implications of patterns of amino acid conservation for structure and function.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

The hereditary palmoplantar keratoses: an updated review and classification

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Epidermolytic palmoplantar keratoderma of Vörner: is it the most frequent type of hereditary palmoplantar keratoderma?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Palmar-plantar keratoderma. A clinical, ultrastructural, and biochemical study.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

A new tool for conditional gene manipulation in a subset of keratin-expressing epithelia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

"Nagashima-type" keratosis as a novel entity in the palmoplantar keratoderma category.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

'Nagashima-type' keratosis palmoplantaris in two siblings.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Possible involvement of T lymphocytes in the pathogenesis of Nagashima-type keratosis palmoplantaris.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824127

28 November 2018

1 reference

12 December 2020

Images in clinical medicine. Aquagenic wrinkling of palms in cystic fibrosis

1 reference

12 December 2020

Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden

1 reference

12 December 2020

Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis

1 reference

12 December 2020

Indication for the identity of palmoplantar keratoderma type Unna-Thost with type Vörner. Thost's family revisited 110 years later

1 reference

12 December 2020

Palmar-plantar keratoderma

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2013.09.015

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.AJHG.2013.09.015

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

PubMed publication ID

24207119

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24207119%20AND%20SRC:MED&resulttype=core&format=json