<p>(A) Sequencing results of the GATA4 mutation. The arrow indicates the heterozygous nucleotides of C/T. (B) A schematic diagram of GATA4 shows the location of the p.R311W mutation. (C) Multiple sequence alignment of the GATA4 indicates that residue 311 is highly evolutionarily conserved in mammals.</p
(A) Sanger sequencing traces spanning positions Chr6:55,146,545–55,146,564 (CanFam3.1) in exon 28 of...
Sequence alignment was generated by ClustalW (http://www.ebi.ac.uk/clustalw/). Residues affected by ...
<p>(A) Single nucleotide change resulting in the glycine to serine mutation was introduced into the ...
<p>A) DNA sequence of proband and parents showing a single base pair change from G in the parents to...
<p>(A) Double GATA4 bound to a tandem GATA binding site. (B) C-terminal zinc finger of GATA4 bound t...
The repeat density of the GACA/GATA tetramers across the chromosomes sets in different species is ex...
<p>a. DNA sequence chromatograms showing heterozygous missense c.5945C>A mutation, compared to wild-...
<p>Multiple sequence alignment demonstrating evolutionary conservation of the six biologically chara...
<p>(A) Protein alignment showed conservation of residues ABCA4 Y808X and G607R across nine species. ...
<p>Upper part, IGV-browser screenshots of the mutations found by exome sequencing and corresponding ...
<div><p>Background</p><p>Congenital heart disease (CHD) is the most prevalent type of birth defect i...
<p>(A) Detection of the endogenous expression of GATA4 in 293T, COS7, Hela and H1299 cells transfect...
Predicted amino acid sequences of the thrombospondin-like domain of vertebrate homologs surrounding ...
<p><b>(A)</b> Schematic of <i>GATA3</i> gene and protein. TCGA mutations are coloured by class and/o...
<p>The novel mutation (c.1888 G>A) in exon 29 of <i>COL2A1</i> may resulti in changes in the protein...
(A) Sanger sequencing traces spanning positions Chr6:55,146,545–55,146,564 (CanFam3.1) in exon 28 of...
Sequence alignment was generated by ClustalW (http://www.ebi.ac.uk/clustalw/). Residues affected by ...
<p>(A) Single nucleotide change resulting in the glycine to serine mutation was introduced into the ...
<p>A) DNA sequence of proband and parents showing a single base pair change from G in the parents to...
<p>(A) Double GATA4 bound to a tandem GATA binding site. (B) C-terminal zinc finger of GATA4 bound t...
The repeat density of the GACA/GATA tetramers across the chromosomes sets in different species is ex...
<p>a. DNA sequence chromatograms showing heterozygous missense c.5945C>A mutation, compared to wild-...
<p>Multiple sequence alignment demonstrating evolutionary conservation of the six biologically chara...
<p>(A) Protein alignment showed conservation of residues ABCA4 Y808X and G607R across nine species. ...
<p>Upper part, IGV-browser screenshots of the mutations found by exome sequencing and corresponding ...
<div><p>Background</p><p>Congenital heart disease (CHD) is the most prevalent type of birth defect i...
<p>(A) Detection of the endogenous expression of GATA4 in 293T, COS7, Hela and H1299 cells transfect...
Predicted amino acid sequences of the thrombospondin-like domain of vertebrate homologs surrounding ...
<p><b>(A)</b> Schematic of <i>GATA3</i> gene and protein. TCGA mutations are coloured by class and/o...
<p>The novel mutation (c.1888 G>A) in exon 29 of <i>COL2A1</i> may resulti in changes in the protein...
(A) Sanger sequencing traces spanning positions Chr6:55,146,545–55,146,564 (CanFam3.1) in exon 28 of...
Sequence alignment was generated by ClustalW (http://www.ebi.ac.uk/clustalw/). Residues affected by ...
<p>(A) Single nucleotide change resulting in the glycine to serine mutation was introduced into the ...