Ivon Harliwong
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View article: Solving unknown primary cancer with earlier diagnosis - the SUPER-ED trial: study protocol for a stepped-wedge cluster randomised controlled trial to support earlier diagnosis for people presenting with malignancy of undefined primary origin
Solving unknown primary cancer with earlier diagnosis - the SUPER-ED trial: study protocol for a stepped-wedge cluster randomised controlled trial to support earlier diagnosis for people presenting with malignancy of undefined primary origin Open
View article: Biotinidase deficiency: A treatable neurometabolic disorder
Biotinidase deficiency: A treatable neurometabolic disorder Open
Biotinidase (E.C. 3.5.1.12) is an enzyme which recycles biotin, a coenzyme of four carboxylases involved in fatty acid synthesis, amino acid catabolism and gluconeogenesis. Biotinidase deficiency (OMIM #253260) causes a reduction in free b…
View article: The mutational landscape of single neurons and oligodendrocytes reveals evidence of inflammation-associated DNA damage in multiple sclerosis
The mutational landscape of single neurons and oligodendrocytes reveals evidence of inflammation-associated DNA damage in multiple sclerosis Open
Neuroinflammation has been linked to DNA damage in multiple sclerosis (MS), but its impact on neural cell genomes at nucleotide resolution is unknown. To address this question, we performed single nucleus whole genome sequencing to determi…
View article: The Effects Of Acute Resistance Exercise On Dual-Energy X-Ray Absorptiometry Measure Of Body Composition
The Effects Of Acute Resistance Exercise On Dual-Energy X-Ray Absorptiometry Measure Of Body Composition Open
Dual Energy X-Ray Absorptiometry (DXA) is a reference laboratory method for estimating body composition but there are questions concerning the pre-testing guidelines that should be followed to increase validity and reliability of this meth…
View article: Influence of anterior chamber depth on postoperative refractive outcome in Chinese eyes
Influence of anterior chamber depth on postoperative refractive outcome in Chinese eyes Open
Aim or Purpose: This study aims to evaluate the refractive surprise (RS) after cataract surgery with various intraocular lens (IOL) formulas in eyes with very shallow or deep anterior chamber depth (ACD). Design: This is a prospective coho…
View article: Erratum: Corrigendum: Whole-genome landscape of pancreatic neuroendocrine tumours
Erratum: Corrigendum: Whole-genome landscape of pancreatic neuroendocrine tumours Open
View article: Epidermal growth factor receptor (EGFR) inhibitors for metastatic colorectal cancer
Epidermal growth factor receptor (EGFR) inhibitors for metastatic colorectal cancer Open
The addition of EGFR MAb to either chemotherapy or best supportive care improves progression-free survival (moderate- to high-quality evidence), overall survival (high-quality evidence), and tumour response rate (moderate- to high-quality …
View article: Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation
Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation Open
The ampulla of Vater is a complex cellular environment from which adenocarcinomas arise to form a group of histopathologically heterogenous tumors. To evaluate the molecular features of these tumors, 98 ampullary adenocarcinomas were evalu…
View article: Schematic representation of three novel ASE genes in liver tissue.
Schematic representation of three novel ASE genes in liver tissue. Open
Red circles are exonic SNPs, blue circles intronic SNPs. SNP colour is proportional to probability of ASE (darker is more significant). Error bars represent the 95% binomial confidence interval (Pearson-Klopper). The gene model at the top …
View article: Erratum: Corrigendum: Whole–genome characterization of chemoresistant ovarian cancer
Erratum: Corrigendum: Whole–genome characterization of chemoresistant ovarian cancer Open
View article: Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance
Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance Open
Treatment options for patients with brain metastases ( BMs ) have limited efficacy and the mortality rate is virtually 100%. Targeted therapy is critically under‐utilized, and our understanding of mechanisms underpinning metastatic outgrow…
View article: Optimized deep-targeted proteotranscriptomic profiling reveals unexplored <i>Conus</i> toxin diversity and novel cysteine frameworks
Optimized deep-targeted proteotranscriptomic profiling reveals unexplored <i>Conus</i> toxin diversity and novel cysteine frameworks Open
Significance Venomous marine cone snails have evolved complex mixtures of fast-acting paralytic cysteine-rich peptides for prey capture and defense able to modulate specific heterologous membrane receptors, ion channels, or transporters. I…
View article: Recommendations for Accurate Resolution of Gene and Isoform Allele-Specific Expression in RNA-Seq Data
Recommendations for Accurate Resolution of Gene and Isoform Allele-Specific Expression in RNA-Seq Data Open
Genetic variation modulates gene expression transcriptionally or post-transcriptionally, and can profoundly alter an individual's phenotype. Measuring allelic differential expression at heterozygous loci within an individual, a phenomenon …
View article: Whole genomes redefine the mutational landscape of pancreatic cancer
Whole genomes redefine the mutational landscape of pancreatic cancer Open