A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy (Q24643519)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17653038%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy (English)

1 reference

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2 January 2020

1 reference

4

Stephen P Daiger

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author name string

Lori S Sullivan

1

1 reference

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2 January 2020

Eric B Baylin

2

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2 January 2020

Ramon Font

3

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2 January 2020

Jay S Pepose

5

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2 January 2020

Thomas E Clinch

6

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2 January 2020

Hisashi Nakamura

7

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2 January 2020

Xinping C Zhao

8

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2 January 2020

Richard W Yee

9

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2 January 2020

Stephen P Daiger

4

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2 January 2020

language of work or name

English

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publication date

21 June 2007

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2 January 2020

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2 January 2020

volume

13

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2 January 2020

page(s)

975-980

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A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy

2 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

Keratin 12-deficient mice have fragile corneal epithelia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

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=2774455

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

Meesmann'S Epithelial Dystrophy of the Cornea

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

Suprabasal expression of a 64-kilodalton keratin (no. 3) in developing human corneal epithelium

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

Appearance of the keratin pair K3/K12 during embryonic and adult corneal epithelial differentiation in the chick and in the rabbit.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774455

A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17653038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Meesmann's corneal dystrophy: ultrastructural features

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17653038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17653038%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

PubMed publication ID

17653038

1 reference