Alvin Yu Jin Ng
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View article: A dominant CIDEC variant segregates with familial obesity by increasing lipid droplet size in adipocytes
A dominant CIDEC variant segregates with familial obesity by increasing lipid droplet size in adipocytes Open
Adipose tissue dysfunction in obesity is a major global public health risk, contributing to insulin resistance and chronic diseases such as diabetes and cardiovascular disorders. Here, we identify a dominant c.37A>G p.(Arg13Gly) variant in…
View article: Knowledge, Attitudes and Practices of Japanese Cardiovascular Surgeons on the Management of Surgical Site Complications and Prophylactic Single-Use Negative Pressure Wound Therapy After Coronary Artery Bypass Surgery: A Quantitative Survey
Knowledge, Attitudes and Practices of Japanese Cardiovascular Surgeons on the Management of Surgical Site Complications and Prophylactic Single-Use Negative Pressure Wound Therapy After Coronary Artery Bypass Surgery: A Quantitative Survey Open
Objective This study assessed the knowledge, attitudes and practices of cardiovascular surgeons in Japan on prophylactic single-use negative pressure wound therapy (sNPWT) after coronary artery bypass grafting (CABG). Methods A survey was …
View article: Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese
Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese Open
Alport syndrome is a common monogenic kidney disease resulting from pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. The estimated global population prevalence is one in 106 individuals for autosomal dominant (AD) and one in 2,320 fo…
View article: Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing
Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing Open
Background Next‐generation sequencing (NGS) technology enables sample multiplexing for interrogation of multiple regions of interest (ROI). Leveraging this, together with access to affordable NGS platforms, we explored the practicality of …
View article: Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis
Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis Open
Summary Impaired proteostasis can induce protein aggregation which is toxic to neuronal cells, contributing to neurodegeneration and other signs of aging. In this study, we delineate an early-onset progressive neuropathy evoking Giant Axon…
View article: Supplementary figures1 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy
Supplementary figures1 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy Open
Supplementary Data
View article: Data from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy
Data from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy Open
Purpose:DNA methylation alterations are widespread in acute myelogenous leukemia (AML) and myelodysplastic syndrome (MDS), some of which appear to have evolved independently of somatic mutations in epigenetic regulators. Although the prese…
View article: Supplementary Tables 1 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy
Supplementary Tables 1 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy Open
Supplementary Tables
View article: Supplementary Table 5 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy
Supplementary Table 5 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy Open
Supplementary Table 5
View article: Supplementary Tables 1 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy
Supplementary Tables 1 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy Open
Supplementary Tables
View article: Supplementary figures1 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy
Supplementary figures1 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy Open
Supplementary Data
View article: Supplementary Table 5 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy
Supplementary Table 5 from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy Open
Supplementary Table 5
View article: Data from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy
Data from A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy Open
Purpose:DNA methylation alterations are widespread in acute myelogenous leukemia (AML) and myelodysplastic syndrome (MDS), some of which appear to have evolved independently of somatic mutations in epigenetic regulators. Although the prese…
View article: A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy
A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy Open
Purpose: DNA methylation alterations are widespread in acute myelogenous leukemia (AML) and myelodysplastic syndrome (MDS), some of which appear to have evolved independently of somatic mutations in epigenetic regulators. Although the pres…
View article: PP79 Publication Trends Of Network Meta-analyses In Europe And Asia: A Focus On Cardiovascular Disease
PP79 Publication Trends Of Network Meta-analyses In Europe And Asia: A Focus On Cardiovascular Disease Open
Introduction The objective of this research was to compare trends in publications of network meta-analyses (NMAs) in cardiovascular diseases (CVDs) in Asia-Pacific (APAC; China, Japan, Singapore, South Korea, Thailand) and Europe (United K…
View article: Functional analysis of germline <i>VANGL2</i> variants using rescue assays of <i>vangl2</i> knockout zebrafish
Functional analysis of germline <i>VANGL2</i> variants using rescue assays of <i>vangl2</i> knockout zebrafish Open
Developmental studies have shown that the evolutionarily conserved Wnt Planar Cell Polarity (PCP) pathway is essential for the development of a diverse range of tissues and organs including the brain, spinal cord, heart and sensory organs,…
View article: Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder
Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder Open
DRG1 is a highly conserved member of a class of GTPases implicated in ribosome biogenesis and translation. The expression of mammalian DRG1 is elevated in the central nervous system during development, and its function has been implicated …
View article: Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma
Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma Open
Background Deletion of 1p is associated with poor prognosis in neuroblastoma, however selected 1p-intact patients still experience poor outcomes. Since mutations of 1p genes may mimic the deleterious effects of chromosomal loss, we studied…
View article: Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult
Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult Open
Ermin is an actin‐binding protein found almost exclusively in the central nervous system (CNS) as a component of myelin sheaths. Although Ermin has been predicted to play a role in the formation and stability of myelin sheaths, this has no…
View article: Variant landscape of the<i>RYR1 gene</i>based on whole genome sequencing of the Singaporean population
Variant landscape of the<i>RYR1 gene</i>based on whole genome sequencing of the Singaporean population Open
Background The RYR1 gene codes for a ryanodine receptor which is a calcium release channel in the skeletal muscle sarcoplasmic reticulum. It is associated with Malignant Hyperthermia (MH) and several congenital myopathies including Central…
View article: Whole-Exome Sequencing to Identify Potential Genetic Risk in Substance Use Disorders: A Pilot Feasibility Study
Whole-Exome Sequencing to Identify Potential Genetic Risk in Substance Use Disorders: A Pilot Feasibility Study Open
Genetics intersects with environmental, cultural, and social factors in the development of addictive disorders. This study reports the feasibility of whole-exome sequencing of trios (subject and two family members) to discover potential ge…
View article: Relative Bradycardia in Patients with Mild-to-Moderate Coronavirus Disease, Japan
Relative Bradycardia in Patients with Mild-to-Moderate Coronavirus Disease, Japan Open
well as temporarily halting patient flow while these measures are implemented.The initial patient described in this article has given his consent for his image and other clinical information to be reported.The patient understands that his …
View article: A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling Open
Failure of neural tube closure during embryonic development can result in anencephaly, one of the most common birth defects in humans. A family with recurrent anencephalic fetuses was investigated to understand its etiology and pathogenesi…
View article: Ermin deficiency as an inside-out model of inflammatory dysmyelination
Ermin deficiency as an inside-out model of inflammatory dysmyelination Open
Ermin is an actin-binding protein found almost exclusively in the central nervous system (CNS) as a component of myelin sheaths. Although Ermin has been predicted to play a role in the formation and stability of myelin sheaths, this has no…