Is the number of DNA repair genes associated with evolution rate and size of genomes?
Published in Human Genomics
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Published in Human Genomics
Do epigenetic changes caused by commensal microbiota contribute to development of ocular disease? A review of evidence
Published in Human Genomics
There is evidence that genetic polymorphisms and environmentally induced epigenetic changes play an important role in modifying disease risk. The commensal microbiota has the ability to affect the cellular environment throughout the body without requiring direct contact; for example, through the generation of a pro-inflammatory state. In this revie...
Metabolomic profiling of metoprolol hypertension treatment reveals altered gut microbiota-derived urinary metabolites
...Published in Human Genomics
IntroductionMetoprolol succinate is a long-acting beta-blocker prescribed for the management of hypertension (HTN) and other cardiovascular diseases. Metabolomics, the study of end-stage metabolites of upstream biologic processes, yield insight into mechanisms of drug effectiveness and safety. Our aim was to determine metabolomic profiles associate...
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutama...
Published in Human Genomics
BackgroundGain-of-function mutations in the GLUD1 gene, encoding for glutamate dehydrogenase (GDH), result in the hyperinsulinism/hyperammonemia HI/HA syndrome. HI/HA patients present with harmful hypoglycemia secondary to protein-induced HI and elevated plasma ammonia levels. These symptoms may be accompanied by seizures and mental retardation. GD...
TRPM3_miR-204: a complex locus for eye development and disease
Published in Human Genomics
First discovered in a light-sensitive retinal mutant of Drosophila, the transient receptor potential (TRP) superfamily of non-selective cation channels serve as polymodal cellular sensors that participate in diverse physiological processes across the animal kingdom including the perception of light, temperature, pressure, and pain. TRPM3 belongs to...
Identification and characterization of methylation-mediated transcriptional dysregulation dictate methylation roles in p...
Published in Human Genomics
BackgroundPreeclampsia (PE) is a heterogeneous, hypertensive disorder of pregnancy, with no robust biomarkers or effective treatments. PE increases the risk of poor outcomes for both the mother and the baby. Methylation-mediated transcriptional dysregulation motifs (methTDMs) could contribute the PE development. However, precise functional roles of...
Delineating significant genome-wide associations of variants with antipsychotic and antidepressant treatment response: i...
Published in Human Genomics
BackgroundGenome-wide association studies (GWAS) have significantly contributed to the association of many clinical conditions and phenotypic characteristics with genomic variants. The majority of these genomic findings have been deposited to the GWAS catalog. So far, findings uncovering associations of single nucleotide polymorphisms (SNPs) with t...
Re-analysis of whole blastocysts after trophectoderm biopsy indicated chromosome aneuploidy
Published in Human Genomics
BackgroundTo compare the concordance between trophectoderm (TE) analysis and whole blastocyst analysis of embryos from chromosomal structural rearrangement (SR) carriers.MethodSixty-three abnormal blastocysts identified by preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR) were included. The whole blastocysts were pro...
Investigating diagnostic sequencing techniques for CADASIL diagnosis
Published in Human Genomics
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Our laboratory has been undertaking genetic diagnostic testing for CADASIL since 1997. Work originally utilised Sanger sequencing methods targeting specific NOTCH3 exons. Mor...
