(Q42522913)

1 November 2017

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

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1 November 2017

1

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1 November 2017

8

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1 November 2017

9

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1 November 2017

3

J E Moore

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1 November 2017

5

S J Morgan

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1 November 2017

C M Coleman

2

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1 November 2017

O Swensson

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4

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1 November 2017

J H McCarthy

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6

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1 November 2017

F J D Smith

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7

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1 November 2017

language of work or name

English

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publication date

1 July 2002

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British Journal of Ophthalmology

1 November 2017

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1 November 2017

86

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1 November 2017

7

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1 November 2017

729-732

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Intermediate filament interactions can be altered by HSP27 and alphaB-crystallin

1 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

Molecular chaperones: small heat shock proteins in the limelight

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

Keratin 12-deficient mice have fragile corneal epithelia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

Lineage-specific and differentiation-dependent expression of K12 keratin in rabbit corneal/limbal epithelial cells: cDNA cloning and northern blot analysis

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

Expression, glycosylation, and phosphorylation of human keratins 8 and 18 in insect cells

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

[Light and electron microscope studies of cyst formation in Meesman-Wilke hereditary corneal epithelial dystrophy]

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

Meesmann'S Epithelial Dystrophy of the Cornea

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771195

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

28 May 2018

1 reference

12 December 2020

Hereditary epithelial corneal dystrophy

1 reference

12 December 2020

Changes in keratin gene expression during terminal differentiation of the keratinocyte

1 reference

12 December 2020

Meesmann's corneal dystrophy: ultrastructural features

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.86.7.729

1 reference

1 November 2017

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1 November 2017

PubMed publication ID

12084738

1 reference