A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy (Q24673060)

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6 November 2019

title

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

1 reference

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6 November 2019

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7

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6 November 2019

author name string

L D Corden

1

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6 November 2019

O Swensson

2

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6 November 2019

B Swensson

3

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6 November 2019

R Rochels

4

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6 November 2019

B Wannke

5

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6 November 2019

H J Thiel

6

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6 November 2019

language of work or name

English

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publication date

1 May 2000

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British Journal of Ophthalmology

6 November 2019

published in

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6 November 2019

volume

84

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6 November 2019

issue

5

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6 November 2019

page(s)

527-530

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

6 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

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=1723457

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=1723457

The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human 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=1723457

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

A structural scaffolding of intermediate filaments in health and disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

Human keratin diseases: hereditary fragility of specific epithelial tissues

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

Structure, Function, and Dynamics of Keratin Intermediate Filaments

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

Intermediate filaments in disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

Cornea-specific expression of K12 keratin during mouse development.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

Differentiation-related expression of a major 64K corneal keratin in vivo and in culture suggests limbal location of corneal epithelial stem cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

Meesmann'S Epithelial Dystrophy of the Cornea

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723457

Rare form of hereditary epithelial dystrophy of the cornea; genetic, clinical, and pathologic study

30 May 2018

1 reference

12 December 2020

Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1

1 reference

12 December 2020

Alpha-helix stability in proteins. I. Empirical correlations concerning substitution of side-chains at the N and C-caps and the replacement of alanine by glycine or serine at solvent-exposed surfaces

1 reference

12 December 2020

Meesmann's corneal dystrophy: ultrastructural features

1 reference

12 December 2020

Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly

1 reference

12 December 2020

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

1 reference

12 December 2020

[On the extent of variation of hereditary epithelial corneal dystrophy (Meesmann-Wilke type)]

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.84.5.527

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10781519%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10781519%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

PubMed publication ID

10781519

1 reference