Journal: Investigative Ophthalmology & Visual Science

Article Title: Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy

doi: 10.1167/iovs.18-25760

Figure Lengend Snippet: Schematic image of TCF4 and the genomic regions recognized by hydrolysis probes. Hs00971338 recognized the N-terminal side of active domain 1 (AD1), Hs00162613 recognized the N-terminal side of active domain 2 (AD2), and Hs00972432 recognized the N-terminal side of basic helix-loop-helix (bHLH) of TCF4.

Article Snippet: The expression level of TCF4 determined by Hs00971338 was significantly higher in patients with FECD with or without CTG TNR expansion >50 than in non-FECD subjects (control: 7.2 ± 4.8; FECD without expansion: 22.3 ± 29.9; and FECD without expansion: 47.4 ± 46.3; P < 0.01).

Techniques:

Journal: Investigative Ophthalmology & Visual Science

Article Title: Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy

doi: 10.1167/iovs.18-25760

Figure Lengend Snippet: Expression of TCF4 mRNA in corneal endothelium of patients with FECD. (A) Total RNA was extracted from the corneal endothelium of the 203 patients with FECD and 35 non-FECD subjects, and cDNA was synthesized. The expression level of TCF4 determined by Hs00971338 was significantly higher in FECD with or without a CTG expansion of a trinucleotide repeat (TNR) expansion larger than 50 when compared with non-FECD subjects. In addition, TCF4 level was significantly higher in FECD with expansion than in FECD without expansion. * P < 0.01. (B) Expression level of TCF4 determined by Hs00162613 was significantly higher in FECD with or without a CTG TNR expansion larger than 50 than in non-FECD subjects. *P < 0.01. (C) Expression level of TCF4 determined by Hs00972432 was higher in FECD with or without CTG-TNR expansion larger than 50 when compared to non-FECD subjects, but TCF4 level showed a statistically significant difference only in FECD with expansion when compared to the control subjects. The TCF4 level determined by Hs00972432 was significantly higher in FECD with expansion than in FECD without expansion. *P < 0.01. The statistical significance was determined with the Steel-Dwass test.

Article Snippet: The expression level of TCF4 determined by Hs00971338 was significantly higher in patients with FECD with or without CTG TNR expansion >50 than in non-FECD subjects (control: 7.2 ± 4.8; FECD without expansion: 22.3 ± 29.9; and FECD without expansion: 47.4 ± 46.3; P < 0.01).

Techniques: Expressing, Synthesized, Control

Journal: Investigative Ophthalmology & Visual Science

Article Title: Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy

doi: 10.1167/iovs.18-25760

Figure Lengend Snippet: Correlation between CTG-TNR length and expression of TCF4 mRNA. (A) CTG TNR length was evaluated by analyzing the genomic DNA from peripheral blood and expression levels were plotted for TCF4 mRNA in the corneal endothelium of patients with FECD. Spearman's correlation coefficient by rank test revealed a weak positive correlation between CTG-TNR length and expression level of TCF4 determined by Hs00971338 (ρ = 0.24, P < 0.01). (B) CTG-TNR length did not show a significant correlation with the expression level of TCF4 determined by Hs00162613 (ρ = 0.01, P = 0.884). (C) CTG-TNR length showed a weak positive correlation with the expression level of TCF4 determined by Hs00972432 (ρ = 0.22, P < 0.01). Correlation was determined by a rank test using Spearman's correlation coefficient.

Article Snippet: The expression level of TCF4 determined by Hs00971338 was significantly higher in patients with FECD with or without CTG TNR expansion >50 than in non-FECD subjects (control: 7.2 ± 4.8; FECD without expansion: 22.3 ± 29.9; and FECD without expansion: 47.4 ± 46.3; P < 0.01).

Techniques: Expressing

Journal: Investigative Ophthalmology & Visual Science

Article Title: Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy

doi: 10.1167/iovs.18-25760

Figure Lengend Snippet: Correlation between the genotype of TCF4 SNP, rs613872, and TCF4 expression level. Genotyping of rs613872 in TCF4 was performed by PCR. No statistically significant correlation was revealed by the Steel-Dwass test between the genotype of TCF4 SNP rs613872 and the expression level of TCF4 determined by three probes: (A) Hs00971338, (B) Hs001612613, and (C) Hs00972432.

Article Snippet: The expression level of TCF4 determined by Hs00971338 was significantly higher in patients with FECD with or without CTG TNR expansion >50 than in non-FECD subjects (control: 7.2 ± 4.8; FECD without expansion: 22.3 ± 29.9; and FECD without expansion: 47.4 ± 46.3; P < 0.01).

Techniques: Expressing

Journal: Genes

Article Title: Lower Fractions of TCF4 Transcripts Spanning over the CTG18.1 Trinucleotide Repeat in Human Corneal Endothelium

doi: 10.3390/genes12122006

Figure Lengend Snippet: Schematic overview (not in scale) of TCF4 transcripts targeted by five TaqMan ® gene expression assays. Assay A shown in yellow targets 9 TCF4 transcripts; assay B shown in green targets 4 TCF4 transcripts; assay C shown in blue targets 11 TCF4 transcripts; assay E shown in purple targets 7 TCF4 transcripts; assay D shown in red targets 13 TCF4 transcripts, 12 of which overlap with those targeted by assays A, B, and C. mRNAs targeted by assay A-D span over the CTG18.1 tract and mRNAs targeted by assay E have TSS immediately at the 3′-end of the (CTG) n tract. Light grey boxes represent untranslated exons, dark grey boxes represent translated exons, and relative position of the CTG18.1 in the TCF4 gene is shown in black. NM—NCBI Reference Sequence (RefSeq).

Article Snippet: All FAM-labelled assays were custom designed except for assay D (Hs00971339_m1, Thermo Fisher) ( ).

Techniques: Gene Expression, Sequencing

Journal: Genes

Article Title: Lower Fractions of TCF4 Transcripts Spanning over the CTG18.1 Trinucleotide Repeat in Human Corneal Endothelium

doi: 10.3390/genes12122006

Figure Lengend Snippet: FECD patients and controls characteristics.

Article Snippet: All FAM-labelled assays were custom designed except for assay D (Hs00971339_m1, Thermo Fisher) ( ).

Techniques: Control

Journal: Genes

Article Title: Lower Fractions of TCF4 Transcripts Spanning over the CTG18.1 Trinucleotide Repeat in Human Corneal Endothelium

doi: 10.3390/genes12122006

Figure Lengend Snippet: Each bar displays a percentage of a ratio of sum of mRNA expression for TaqMan TM assay A, B, C, and D to total TCF4 gene expression. These assays detect only TCF4 transcripts that span over the CTG18.1 tract. Numbers on top of bars indicate % of total TCF4 expression. Numbers at bottom of bars indicate number of individuals in each group. TCF4 + —individuals harbouring TCF4 (CTG) n with more than 40 repeats ( n > 40), TCF4 − —individuals harbouring TCF4 (CTG) n with less than 40 repeats ( n < 40). CE-corneal endothelium, WBC-white blood cells, * p -value = 0.04 in comparison of CE A–D TCF4 expression ( n = 9) to all other tissues ( n = 25) presented in the Figure.

Article Snippet: All FAM-labelled assays were custom designed except for assay D (Hs00971339_m1, Thermo Fisher) ( ).

Techniques: Expressing, Gene Expression, Comparison

Journal: Genes

Article Title: Lower Fractions of TCF4 Transcripts Spanning over the CTG18.1 Trinucleotide Repeat in Human Corneal Endothelium

doi: 10.3390/genes12122006

Figure Lengend Snippet: mRNA gene expression by TaqMan TM assays ( A ) to ( E ) targeting TCF4 transcripts ( n = 32) spanning over the (CTG) n repeat ( A – D ) and transcripts starting immediately at the 3′ end of the repeat ( E ) in FECD TCF4 + CE (grey) and non-FECD TCF4 − CE (white). Within boxes, dotted lines display medians and continuous lines display means. Empty circles display outliers.

Article Snippet: All FAM-labelled assays were custom designed except for assay D (Hs00971339_m1, Thermo Fisher) ( ).

Techniques: Gene Expression

Journal: Genes

Article Title: Lower Fractions of TCF4 Transcripts Spanning over the CTG18.1 Trinucleotide Repeat in Human Corneal Endothelium

doi: 10.3390/genes12122006

Figure Lengend Snippet: mRNA gene expression probed by TaqMan TM assays A to E in corneal endothelium and WBC targeting TCF4 transcripts spanning over the CTG18.1 ( a – d ) and TCF4 transcripts starting immediately at the 3′ end of the (CTG) n repeat tract ( e ). Within boxes, dotted lines display medians and continuous lines display means. Empty circles display outliers. TCF4 + —individuals harbouring TCF4 (CTG) n with more than 40 repeats ( n > 40), TCF4 − —individuals harbouring TCF4 (CTG) n with less than 40 repeats ( n < 40). CE—corneal endothelium, WBC—white blood cells.

Article Snippet: All FAM-labelled assays were custom designed except for assay D (Hs00971339_m1, Thermo Fisher) ( ).

Techniques: Gene Expression

Journal: PLoS ONE

Article Title: Transcriptional Profiling of Human Familial Longevity Indicates a Role for ASF1A and IL7R

doi: 10.1371/journal.pone.0027759

Figure Lengend Snippet: RT-qPCR results.

Article Snippet: 24 , TCF4 , Hs00972428_g1 , 0.88 , 1.5×10 −5 , 1.01 , 0.872.

Techniques: