https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Premature dyad separation in meiosis II is the major segregation error with maternal age in mouse oocytes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:21342 Wed 11 Apr 2018 12:17:52 AEST ]]> The arboranan frogs: evolution, biology and cytogenetics https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:35422 Tue 30 Jul 2019 09:58:39 AEST ]]> Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:50870 Thu 17 Aug 2023 11:14:48 AEST ]]> Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:7518 Sat 24 Mar 2018 08:38:28 AEDT ]]> Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:28356 −9) in a combined discovery and replication set (26 953 samples). This single nucleotide polymorphism (SNP) is located within the RBFOX1 gene which is a neuron-specific splicing factor regulating a wide range of alternative splicing events implicated in neuronal development and maturation, including transcription factors, other splicing factors and synaptic proteins.]]> Sat 24 Mar 2018 07:25:12 AEDT ]]> Conserved role of the large conductance calcium-activated potassium channel, K<sub>Ca</sub>1.1, in sinus node function and arrhythmia risk https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:46291 2+-activated K+ channel, KCa1.1, and lies within a linkage interval for atrial fibrillation (AF). Insights into the cardiac functions of KCa1.1 are limited, and KCNMA1 has not been investigated as an AF candidate gene. Methods; The KCNMA1 gene was sequenced in 118 patients with familial AF. The role of KCa1.1 in normal cardiac structure and function was evaluated in humans, mice, zebrafish, and fly. A novel KCNMA1 variant was functionally characterized.Results: A complex KCNMA1 variant was identified in 1 kindred with AF. To evaluate potential disease mechanisms, we first evaluated the distribution of KCa1.1 in normal hearts using immunostaining and immunogold electron microscopy. KCa1.1 was seen throughout the atria and ventricles in humans and mice, with strong expression in the sinus node. In an ex vivo murine sinoatrial node preparation, addition of the KCa1.1 antagonist, paxilline, blunted the increase in beating rate induced by adrenergic receptor stimulation. Knockdown of the KCa1.1 ortholog, kcnma1b, in zebrafish embryos resulted in sinus bradycardia with dilatation and reduced contraction of the atrium and ventricle. Genetic inactivation of the Drosophila KCa1.1 ortholog, slo, systemically or in adult stages, also slowed the heartbeat and produced fibrillatory cardiac contractions. Electrophysiological characterization of slo-deficient flies revealed bursts of action potentials, reflecting increased events of fibrillatory arrhythmias. Flies with cardiac-specific overexpression of the human KCNMA1 mutant also showed increased heart period and bursts of action potentials, similar to the KCa1.1 loss-of-function models. Conclusions: Our data point to a highly conserved role of KCa1.1 in sinus node function in humans, mice, zebrafish, and fly and suggest that KCa1.1 loss of function may predispose to AF.]]> Mon 14 Nov 2022 16:44:58 AEDT ]]> Reproduction in Monotremes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:41288 Mon 01 Aug 2022 11:41:21 AEST ]]> Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:33772 Fri 11 Jan 2019 13:41:08 AEDT ]]>