7 research outputs found
Pedigree analysis of a three-generation consanguineous family presenting with autosomal recessive inheritance of celiac disease.
<p>Exome sequenced individuals are indicated with an * mark.</p
Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare <i>AK5</i> allelic variant in celiac disease development among Saudi patients - Fig 3
<p>(A) Nucleotide sequence Alignment of human and primate adenylate kinase 5 genes. (B) Phylogenetic tree of the human adenylate kinases.</p
Genotype and allelic distribution of <i>AK5</i>,c.1683_1684insATT variant between celiac sporadic patients and controls, as well as their risk prediction for celiac disease.
<p>Genotype and allelic distribution of <i>AK5</i>,c.1683_1684insATT variant between celiac sporadic patients and controls, as well as their risk prediction for celiac disease.</p
Molecular view of wildtype (Red in color) and mutant (Yellow in color) AK5: a) Hydrophobic bonds arrangement in AK5-wildtype residues Iso561 with Iso556 and Ala557 and b) AK5-mutant residues Iso562 and Phe563.
<p>Molecular view of wildtype (Red in color) and mutant (Yellow in color) AK5: a) Hydrophobic bonds arrangement in AK5-wildtype residues Iso561 with Iso556 and Ala557 and b) AK5-mutant residues Iso562 and Phe563.</p
List of nucleotide variants from exome data which showed autosomal recessive inheritance model in consanguineous celiac disease family.
<p>List of nucleotide variants from exome data which showed autosomal recessive inheritance model in consanguineous celiac disease family.</p
Chromosomal location of human <i>AK5</i> gene at 1p31.1 and chromatograms of ATT insertion sequence (wild type, heterozygote, and homozygous mutant genotypes) observed in celiac patients.
<p>(Chromosome and gene location figure generated from Ensembl browser).</p
The genetic variants yield of a celiac disease family.
<p>The genetic variants yield of a celiac disease family.</p