(Q55073664)

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Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.

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Europe PubMed Central

PubMed publication ID

17 June 2018

http://europepmc.org/abstract/MED/24940934

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification. (English)

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Europe PubMed Central

PubMed publication ID

17 June 2018

http://europepmc.org/abstract/MED/24940934

Justyna A Karolak

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940934%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marzena Gajecka

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940934%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

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Jacek P Szaflik

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940934%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

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Jerzy Szaflik

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940934%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Piotr Polakowski

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Piotr Polakowski

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Europe PubMed Central

PubMed publication ID

9 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940934%20AND%20SRC:MED&resulttype=core&format=json

publication date

18 June 2014

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Europe PubMed Central

PubMed publication ID

17 June 2018

http://europepmc.org/abstract/MED/24940934

Ophthalmic Genetics

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940934%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

37

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9 June 2020

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940934%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

37-43

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940934%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Longitudinal study of the normal eyes in unilateral keratoconus patients

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Mechanisms of rubbing-related corneal trauma in keratoconus

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Keratoconus and coexisting atopic disease

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Oxidative stress in keratoconus?

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

MONGOLISM (DOWN'S SYNDROME) AND KERATOCONUS.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

VSX1: a gene for posterior polymorphous dystrophy and keratoconus

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Polymorphisms of the homologous recombination gene RAD51 in keratoconus and Fuchs endothelial corneal dystrophy

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Keratoconus is not associated with mutations in COL8A1 and COL8A2.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Common single nucleotide polymorphisms and keratoconus in the Han Chinese population

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

VSX1 gene variants are associated with keratoconus in unrelated Korean patients

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

VSX1 gene and keratoconus: genetic analysis in Korean patients

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Human genetic variation recognizes functional elements in noncoding sequence

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

No VSX1 gene mutations associated with keratoconus

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Mutational screening of VSX1 in keratoconus patients from the European population.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Focus on molecules: Transforming growth factor beta induced protein (TGFBIp).

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Keratoconus--no association with the transforming growth factor beta-induced gene in a cohort of American patients.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Specific recognition of Rac2 and Cdc42 by DOCK2 and DOCK9 guanine nucleotide exchange factors

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Cloning and characterization of human karyopherin beta3

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Caspase activation of mammalian sterile 20-like kinase 3 (Mst3). Nuclear translocation and induction of apoptosis

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.926375

21 January 2018

Identifiers

10.3109/13816810.2014.926375

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940934%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940934%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

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