(Q36881897)

English

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation

scientific article published on 15 September 2008

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18806880%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18806880%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

Meesmann corneal dystrophy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18806880%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Radosław B Maksym

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18806880%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Agnieszka Pollak

5

1 reference

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14 January 2020

7

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Europe PubMed Central

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14 January 2020

1

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Jacek P Szaflik

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14 January 2020

8

object named as

Jerzy Szaflik

1 reference

Europe PubMed Central

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14 January 2020

6

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Monika Udziela

1 reference

Europe PubMed Central

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14 January 2020

4

object named as

Anna Kamińska

1 reference

Europe PubMed Central

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14 January 2020

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publication date

15 September 2008

1 reference

Europe PubMed Central

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14 January 2020

Molecular Vision

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18806880%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

14

1 reference

Europe PubMed Central

PMC publication ID

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14 January 2020

1713-1718

1 reference

Europe PubMed Central

PMC publication ID

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14 January 2020

A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

Comparison of in vivo confocal microscopy of human cornea by white light scanning slit and laser scanning systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

Structural and regulatory functions of keratins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

The Molecular Genetics of Keratin Disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2538492

4 September 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18806880

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence comparisons of intermediate filament chains: evidence of a unique functional/structural role for coiled-coil segment 1A and linker L1

1 reference

https://pubmed.ncbi.nlm.nih.gov/18806880

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18806880%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18806880%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

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