A5064667591- RNA modifications and cancer
- RNA Research and Splicing
- Cancer-related molecular mechanisms research
- Cardiomyopathy and Myosin Studies
- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Cancer Genomics and Diagnostics
- Bioinformatics and Genomic Networks
- Ecocriticism and Environmental Literature
- Geographies of human-animal interactions
- Genomics and Rare Diseases
- Gothic Literature and Media Analysis
- Single-cell and spatial transcriptomics
- Joseph Conrad and Literature
- Gene expression and cancer classification
- Genomics and Chromatin Dynamics
UNSW Sydney
2020-2025
Abstract In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of inheritance have been described the neuromuscular disease field. Here we show that predicted deleterious SRPK3 , encoding X-linked serine/argenine protein kinase 3, lead a progressive early onset skeletal muscle myopathy only when combination with heterozygous TTN gene. The co-occurrence / was not seen among 76,702 healthy male individuals, and statistical...
Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders. Objective To better understand presentation and clinical needs under‐characterized extreme end severity spectrum. Methods We comprehensively analyzed clinical, imaging, pathology, autopsy, genetic findings in 15 severely affected individuals from 11 families. Results Prenatal features included hypokinesia or akinesia growth restriction. Six pregnancies were terminated. Nine infants born at near...
Background: Variants in the DMD gene, that encodes cytoskeletal protein, dystrophin, cause a severe form of dilated cardiomyopathy (DCM) associated with high rates heart failure, transplantation, and ventricular arrhythmias. Improved early detection individuals at risk is needed. Methods: Genetic testing 40 male probands potential X-linked genetic primary DCM was undertaken using multi-gene panel sequencing, multiplex polymerase chain reaction, array comparative genomic hybridization....
Abstract Accurate predictive modeling of human gene relationships would fundamentally transform our ability to uncover the molecular mechanisms that underpin key biological and disease processes. Recent studies have employed advanced AI techniques model complexities networks using large expression datasets 1–11 . However, extent nature information these models can learn is not fully understood. Furthermore, potential for improving performance by alternative data types, architectures,...
Abstract Mice are widely used as animal models in biomedical research, favored for their small size, ease of breeding, and anatomical physiological similarities to humans 1,2 . However, discrepancies between mouse gene experimental results the actual behavior human genes not uncommon, despite shared DNA sequence similarity 3–8 This suggests that does always reliably predict functional similarity. On other hand, RNA-level expression could offer additional information about function 9,10 In...
Abstract Gene expression regulation is a sophisticated, multi-stage process, and its robustness critical to normal cell function the survival of an organism. Previous studies indicate that differential gene at RNA level typically attenuated protein through translational regulation. However, how post-transcriptional (PTR) influences change during maturation process remains unclear. In this study, we investigated by quantifying magnitude in precursor mature across vast range different...
Long non-coding RNAs (lncRNAs) are emerging as key regulators in many biological processes. The dysregulation of lncRNA expression has been associated with diseases, including cancer. Mounting evidence suggests lncRNAs to be involved cancer initiation, progression, and metastasis. Thus, understanding the functional implications tumorigenesis can aid developing novel biomarkers therapeutic targets. Rich datasets, documenting genomic transcriptomic alterations together advancement...
In “Karain: A Memory,” Conrad presents a sustained reflection on the interplay between political forces of globalization and personal influence memory writing, interrogating mechanisms by which landscape from past may be recalled, molded, reified in ink paper. The story subjects role memory, acting across extraordinary spatiotemporal ranges to influenced narration perception an increasingly modernizing, globalized world, extensive palpably self-conscious contemplation. Conrad’s maritime...
The so-called animal turn in literature has fostered the evolution of studies, a discipline aimed at interrogating ontological, ethical, and metaphysical implications depictions. Animal studies deals with representation agency literature, its insights have fundamental for understanding conception progression human-animal interactions. Considering questions raised by context literary depictions animals science fiction, this article threads John Berger’s characterization present as time...
Abstract Long non-coding RNAs (lncRNAs) are emerging as key regulators in many biological processes. The dysregulation of lncRNA expression has been associated with diseases, including cancer. Mounting evidence suggests that lncRNAs involved cancer initiation, progression, and metastasis. Thus, understanding the functional implications tumorigenesis can aid developing novel biomarkers therapeutic targets. Rich datasets, documenting genomic transcriptomic alterations together advancement...
Long non-coding RNAs (lncRNAs) are emerging as key regulators in many biological processes. The dysregulation of lncRNA expression has been associated with diseases, including cancer. Mounting evidence suggests that lncRNAs involved cancer initiation, progression, and metastasis. Thus, understanding the functional implications tumorigenesis can aid developing novel biomarkers therapeutic targets. Rich datasets documenting genomic transcriptomic alterations, together advancements...