A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy (Q58859919)

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2 November 2019

title

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

1 reference

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Meesmann corneal dystrophy

2 November 2019

main subject

1 reference

6

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2 November 2019

author name string

C M Coleman

1

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2 November 2019

S Hannush

2

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2 November 2019

S P Covello

3

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2 November 2019

F J Smith

4

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2 November 2019

J Uitto

5

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2 November 2019

language of work or name

English

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publication date

1 December 1999

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American Journal of Ophthalmology

2 November 2019

published in

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2 November 2019

volume

128

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2 November 2019

issue

6

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2 November 2019

page(s)

687-691

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

2 November 2019

cites work

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Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

7 January 2021

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Intermediate filaments in disease

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Human keratin diseases: hereditary fragility of specific epithelial tissues

7 January 2021

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Existence of slow-cycling limbal epithelial basal cells that can be preferentially stimulated to proliferate: implications on epithelial stem cells

7 January 2021

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

7 January 2021

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

7 January 2021

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Cornea-specific expression of K12 keratin during mouse development.

7 January 2021

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

7 January 2021

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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

7 January 2021

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Peptides from the Conserved Ends of the Rod Domain of Desmin Disassemble Intermediate Filaments and Reveal Unexpected Structural Features: A Circular Dichroism, Fourier Transform Infrared, and Electron Microscopic Study

7 January 2021

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

7 January 2021

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Elucidating the early stages of keratin filament assembly

7 January 2021

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Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: Specific domain functions in keratin stabilization and filament formation

7 January 2021

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

7 January 2021

1 reference

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

7 January 2021

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Transgenic mice provide new insights into the role of TGF-alpha during epidermal development and differentiation

7 January 2021

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Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity

7 January 2021

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

7 January 2021

1 reference

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Anterior corneal disease of epidermolysis bullosa simplex

7 January 2021

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Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

7 January 2021

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Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex

7 January 2021

1 reference

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Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

7 January 2021

1 reference

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10.1016/S0002-9394(99)00317-7

7 January 2021

Identifiers

DOI

1 reference

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2 November 2019

1 reference