Polymorphism of the DNA base excision repair genes in keratoconus.

PubWeight™: 0.76‹?›

🔗 View Article (PMC 4264133)

Published in Int J Mol Sci on October 29, 2014

Authors

Katarzyna A Wojcik1, Ewelina Synowiec2, Katarzyna Sobierajczyk3, Justyna Izdebska4, Janusz Blasiak5, Jerzy Szaflik6, Jacek P Szaflik7

Author Affiliations

1: Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland. kwojcik@biol.uni.lodz.pl.
2: Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland. ewelinas@biol.uni.lodz.pl.
3: Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland. katarzyna2781@wp.pl.
4: Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic Hospital, Sierakowskiego 13, 03-709 Warsaw, Poland. justyna_izdebska@yahoo.es.
5: Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland. jblasiak@biol.uni.lodz.pl.
6: Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic Hospital, Sierakowskiego 13, 03-709 Warsaw, Poland. szaflik@szaflik.pl.
7: Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic Hospital, Sierakowskiego 13, 03-709 Warsaw, Poland. szaflik@ophthalmology.pl.

Articles cited by this

Keratoconus. Surv Ophthalmol (1998) 10.52

Reconstitution of DNA base excision-repair with purified human proteins: interaction between DNA polymerase beta and the XRCC1 protein. EMBO J (1996) 4.89

Poly(ADP-ribosyl)ation by PARP-1: 'PAR-laying' NAD+ into a nuclear signal. Genes Dev (2005) 4.61

An interaction between the mammalian DNA repair protein XRCC1 and DNA ligase III. Mol Cell Biol (1994) 3.99

XRCC1 polypeptide interacts with DNA polymerase beta and possibly poly (ADP-ribose) polymerase, and DNA ligase III is a novel molecular 'nick-sensor' in vitro. Nucleic Acids Res (1996) 3.51

XRCC1 and DNA strand break repair. DNA Repair (Amst) (2003) 3.46

XRCC1 coordinates the initial and late stages of DNA abasic site repair through protein-protein interactions. EMBO J (2001) 2.67

VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet (2002) 2.49

A novel human DNA glycosylase that removes oxidative DNA damage and is homologous to Escherichia coli endonuclease VIII. DNA Repair (Amst) (2002) 2.41

Mutation altering the miR-184 seed region causes familial keratoconus with cataract. Am J Hum Genet (2011) 2.33

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol (2002) 2.12

Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells. Carcinogenesis (2000) 1.97

DNA-damage repair; the good, the bad, and the ugly. EMBO J (2008) 1.89

Role of poly(ADP-ribose) polymerase activation in diabetic neuropathy. Diabetes (2004) 1.79

Evidence of oxidative stress in human corneal diseases. J Histochem Cytochem (2002) 1.76

The genetics of keratoconus. Clin Experiment Ophthalmol (2001) 1.71

A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. Invest Ophthalmol Vis Sci (2002) 1.66

Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci (2003) 1.65

Recognition of the oxidized lesions spiroiminodihydantoin and guanidinohydantoin in DNA by the mammalian base excision repair glycosylases NEIL1 and NEIL2. DNA Repair (Amst) (2005) 1.62

Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1. Proc Natl Acad Sci U S A (2004) 1.56

Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet (2000) 1.52

Poly(ADP-ribose) polymerase (PARP-1) in homologous recombination and as a target for cancer therapy. Cell Cycle (2005) 1.48

Between-eye asymmetry in keratoconus. Cornea (2002) 1.39

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. J Med Genet (2004) 1.36

Overview of base excision repair biochemistry. Curr Mol Pharmacol (2012) 1.36

PARP inhibitors: new partners in the therapy of cancer and inflammatory diseases. Free Radic Biol Med (2009) 1.33

Inactivating mutations of the human base excision repair gene NEIL1 in gastric cancer. Carcinogenesis (2004) 1.30

The cascade hypothesis of keratoconus. Cont Lens Anterior Eye (2003) 1.29

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr (2006) 1.29

Keratoconus: current perspectives. Clin Ophthalmol (2013) 1.28

Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1. Genet Med (2005) 1.27

Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1. Curr Biol (2004) 1.26

No VSX1 gene mutations associated with keratoconus. Invest Ophthalmol Vis Sci (2006) 1.23

Oxidative stress in keratoconus? Invest Ophthalmol Vis Sci (2011) 1.23

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci (2008) 1.14

Poly(ADP-ribosyl)ation in mammalian ageing. Nucleic Acids Res (2007) 1.13

Oxidative stress in diseases of the human cornea. Free Radic Biol Med (2008) 1.13

Keratoconus detection using corneal topography. J Refract Surg (2009) 1.13

Superoxide dismutase isoenzymes in the normal and diseased human cornea. Invest Ophthalmol Vis Sci (2001) 1.12

Hereditary Fuchs' Dystrophy. Am J Ophthalmol (1980) 1.11

Incidence of keratoconus in spring catarrh. Br J Ophthalmol (1988) 1.11

Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia. Hum Genet (2002) 1.10

Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet (2005) 1.10

VSX1 gene analysis in keratoconus. Mol Vis (2010) 1.07

Insights into keratoconus from a genetic perspective. Clin Exp Optom (2013) 1.07

Accumulation of mitochondrial DNA damage in keratoconus corneas. Invest Ophthalmol Vis Sci (2005) 1.06

Hypersensitive response to oxidative stress in keratoconus corneal fibroblasts. Invest Ophthalmol Vis Sci (2008) 1.06

Corneal thickness indices discriminate between keratoconus and contact lens-induced corneal thinning. Ophthalmology (2002) 1.05

Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia. Mol Vis (2011) 1.03

DNA polymerase gamma in mitochondrial DNA replication and repair. ScientificWorldJournal (2003) 1.02

Endonuclease VIII-like 1 (NEIL1) promotes short-term spatial memory retention and protects from ischemic stroke-induced brain dysfunction and death in mice. Proc Natl Acad Sci U S A (2012) 1.01

The relation between disease asymmetry and severity in keratoconus. Br J Ophthalmol (2004) 1.01

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci. Hum Genet (2008) 1.01

Transforming growth factor-β signaling pathway activation in Keratoconus. Am J Ophthalmol (2011) 1.00

The mitochondrial DNA polymerase in health and disease. Subcell Biochem (2010) 0.98

Single nucleotide polymorphisms of DNA repair genes XRCC1 and XPD and its molecular mapping in Indian oral cancer. Oral Oncol (2005) 0.98

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus. Eur J Hum Genet (2011) 0.98

Single-nucleotide polymorphisms of DNA repair genes OGG1 and XRCC1: association with gallbladder cancer in North Indian population. Ann Surg Oncol (2009) 0.97

The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population. Gene (2012) 0.97

A profile of keratoconus in New Zealand. Cornea (2003) 0.96

X-ray repair cross-complementing group 1 (XRCC1) genetic polymorphisms and cervical cancer risk: a huge systematic review and meta-analysis. PLoS One (2012) 0.95

Eukaryotic endonuclease VIII-like proteins: new components of the base excision DNA repair system. Biochemistry (Mosc) (2011) 0.93

Evaluation of the poly(ADP-ribose) polymerase-1 gene variants in Alzheimer's disease. J Clin Lab Anal (2010) 0.89

Keratoconus and blindness in 469 institutionalised subjects with Down syndrome and other causes of mental retardation. J Ment Defic Res (1981) 0.88

Keratoconus in two pairs of identical twins. Cornea (1996) 0.87

Oxidized base damage and single-strand break repair in mammalian genomes: role of disordered regions and posttranslational modifications in early enzymes. Prog Mol Biol Transl Sci (2012) 0.87

Epigenetic screen of human DNA repair genes identifies aberrant promoter methylation of NEIL1 in head and neck squamous cell carcinoma. Oncogene (2012) 0.86

Ehlers-Danlos syndrome associated with keratoconus. A case report. S Afr Med J (1977) 0.86

Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma. Carcinogenesis (2009) 0.86

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut (2008) 0.85

Joint hypermobility in keratoconus. Ophthalmic Physiol Opt (1990) 0.83

Discordance for keratoconus in two pairs of monozygotic twins. Cornea (1999) 0.82

Free radicals and antioxidants in the pathogenesis of eye diseases. Adv Exp Med Biol (1990) 0.82

Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus. BMC Res Notes (2013) 0.81

XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population. Mol Vis (2011) 0.81

Keratoconus and Leber's congenital amaurosis: a clinicopathological correlation. Can J Ophthalmol (1984) 0.81

The role of mammalian NEIL1 protein in the repair of 8-oxo-7,8-dihydroadenine in DNA. FEBS Lett (2010) 0.81

Association between DNA repair genes (XPD and XRCC1) polymorphisms and susceptibility to age-related cataract (ARC): a meta-analysis. Graefes Arch Clin Exp Ophthalmol (2014) 0.80

Polymorphism of the transferrin gene in eye diseases: keratoconus and Fuchs endothelial corneal dystrophy. Biomed Res Int (2013) 0.78

Contact lenses fitting after intracorneal ring segments implantation in keratoconus. Arq Bras Oftalmol (2013) 0.76

Three novel NEIL1 promoter polymorphisms in gastric cancer patients. World J Gastrointest Oncol (2010) 0.76