Associated Papers
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.
Zhang J et al.
Molecular Diagnosis & Therapy, 2019
Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.
Tang H et al.
International Journal of Molecular Medicine, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-BH-A0E2-01A.domain
Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.
Igo RP et al.
Plos One, 2012
23110055 (PubMed )
Supplement: pone.0046742.s005.xls › COL8A2_tallies
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
21701589 (PubMed )
Supplement: pone.0021097.s002.xls › gtl16_f40r3
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.
Hemadevi B et al.
Bmc Ophthalmology, 2010
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.
Mok JW et al.
Eye (london, England), 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Keratoconus is not associated with mutations in COL8A1 and COL8A2.
Aldave AJ et al.
Cornea, 2007
No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy.
Yellore VS et al.
Investigative Ophthalmology & Visual Science, 2005
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.
Kobayashi A et al.
Japanese Journal of Ophthalmology, 0
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