Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy (Q24336364)

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3 November 2019

title

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

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3 November 2019

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GOA release 2020-03-11

keratin 12

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GOA release 2020-03-11

visual perception

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GOA release 2020-03-11

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1

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3 November 2019

Irwin McLean

12

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3 November 2019

5

Moore JE

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3 November 2019

author name string

Corden LD

2

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3 November 2019

Swensson O

3

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3 November 2019

Swensson B

4

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3 November 2019

Frazer DG

6

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3 November 2019

Knowlton RG

8

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3 November 2019

Christophers E

9

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3 November 2019

Rochels R

10

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3 November 2019

Uitto J

11

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3 November 2019

Smith FJ

7

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3 November 2019

language of work or name

English

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publication date

1 June 1997

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3 November 2019

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3 November 2019

volume

16

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3 November 2019

issue

2

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3 November 2019

page(s)

184-187

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

3 November 2019

cites work

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Three autosomal dominant corneal dystrophies map to chromosome 5q

20 April 2017

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Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

20 April 2017

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Keratin 16 and keratin 17 mutations cause pachyonychia congenita

20 April 2017

1 reference

Intermediate filaments in disease

20 April 2017

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q.

21 January 2018

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Cornea-specific expression of K12 keratin during mouse development.

21 January 2018

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7 January 2021

Human keratin diseases: hereditary fragility of specific epithelial tissues

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7 January 2021

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

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7 January 2021

The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36

1 reference

7 January 2021

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

1 reference

7 January 2021

Linkage of posterior polymorphous corneal dystrophy to 20q11

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7 January 2021

An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease

1 reference

7 January 2021

Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II

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7 January 2021

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

1 reference

7 January 2021

Evolution of keratin genes: different protein domains evolve by different pathways

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7 January 2021

Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa

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7 January 2021

Identifiers

DOI

10.1038/NG0697-184

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Dimensions Publication ID

3 November 2019

1007816032

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Fatcat ID

release_gqlczcjxdnhlfmiglml2rhcmsi

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Fatcat

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24 November 2022

mapped directly with Wikidata item

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