Restuadi Restuadi
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View article: Multimodal imaging reveals a lysosomal drug reservoir that drives heterogeneous distribution of PARP inhibitors
Multimodal imaging reveals a lysosomal drug reservoir that drives heterogeneous distribution of PARP inhibitors Open
For all drugs, effective target engagement requires sufficient intracellular concentrations of drug to be reached, but whether tumour heterogeneity impacts drug distribution and efficacy is poorly studied. PARP inhibitors have transformed …
View article: TYPE I INTERFERON AND MITOCHONDRIAL DYSFUNCTION ARE ASSOCIATED WITH DYSREGULATED CYTOTOXIC CD8+ T CELL RESPONSES IN JUVENILE SYSTEMIC LUPUS ERYTHEMATOSUS
TYPE I INTERFERON AND MITOCHONDRIAL DYSFUNCTION ARE ASSOCIATED WITH DYSREGULATED CYTOTOXIC CD8+ T CELL RESPONSES IN JUVENILE SYSTEMIC LUPUS ERYTHEMATOSUS Open
PV001 / #50 Poster Topic: AS01 - Adaptive Immunity Background/Purpose Juvenile systemic lupus erythematosus (JSLE) is an autoimmune condition which causes significant morbidity in children and young adults. While many aspects of immune dys…
View article: Identification and validation of interferon-driven gene signature as a predictor of response to methotrexate in juvenile idiopathic arthritis
Identification and validation of interferon-driven gene signature as a predictor of response to methotrexate in juvenile idiopathic arthritis Open
In children with JIA, a high IFN-driven gene signature is associated with a better response to MTX than those with a low IFN-driven gene signature. These data could pave the way to clinically validated tools to identify those most likely t…
View article: Penalised regression improves imputation of cell-type specific expression using RNA-seq data from mixed cell populations compared to domain-specific methods
Penalised regression improves imputation of cell-type specific expression using RNA-seq data from mixed cell populations compared to domain-specific methods Open
Gene expression studies often use bulk RNA sequencing of mixed cell populations because single cell or sorted cell sequencing may be prohibitively expensive. However, mixed cell studies may miss expression patterns that are restricted to s…
View article: Estrogen influences class-switched memory B cell frequency only in humans with two X chromosomes
Estrogen influences class-switched memory B cell frequency only in humans with two X chromosomes Open
Sex differences in immunity are well-documented, though mechanisms underpinning these differences remain ill-defined. Here, in a human-only ex vivo study, we demonstrate that postpubertal cisgender females have higher levels of CD19+CD27+I…
View article: Type I interferon and mitochondrial dysfunction are associated with dysregulated cytotoxic CD8+ T cell responses in juvenile systemic lupus erythematosus
Type I interferon and mitochondrial dysfunction are associated with dysregulated cytotoxic CD8+ T cell responses in juvenile systemic lupus erythematosus Open
Juvenile systemic lupus erythematosus (JSLE) is an autoimmune condition which causes significant morbidity in children and young adults and is more severe in its presentation than adult-onset SLE. While many aspects of immune dysfunction h…
View article: Oestrogen influences B cell class-switching in individuals with an XX sex chromosome complement
Oestrogen influences B cell class-switching in individuals with an XX sex chromosome complement Open
Sex differences in humoral immunity are well-documented, though the mechanisms underpinning these differences remain ill-defined. Here, we demonstrate that post-pubertal cisgender females have higher levels of class-switched B cells compar…
View article: Active juvenile systemic lupus erythematosus is associated with distinct NK cell transcriptional and phenotypic alterations
Active juvenile systemic lupus erythematosus is associated with distinct NK cell transcriptional and phenotypic alterations Open
View article: Human enteric nervous system progenitor transplantation improves functional responses in Hirschsprung disease patient-derived tissue
Human enteric nervous system progenitor transplantation improves functional responses in Hirschsprung disease patient-derived tissue Open
Objective Hirschsprung disease (HSCR) is a severe congenital disorder affecting 1:5000 live births. HSCR results from the failure of enteric nervous system (ENS) progenitors to fully colonise the gastrointestinal tract during embryonic dev…
View article: P096 Pathway directionality across different immune cell lineages contributes to methotrexate response in juvenile idiopathic arthritis
P096 Pathway directionality across different immune cell lineages contributes to methotrexate response in juvenile idiopathic arthritis Open
Background/Aims Juvenile idiopathic arthritis (JIA) is the most common autoimmune rheumatic disease in children with methotrexate (MTX) as the first line treatment. However, about 50% of JIA patients will not respond well to MTX yet still …
View article: Integrative analysis of neuroblastoma by single-cell RNA sequencing identifies the NECTIN2-TIGIT axis as a target for immunotherapy
Integrative analysis of neuroblastoma by single-cell RNA sequencing identifies the NECTIN2-TIGIT axis as a target for immunotherapy Open
View article: Autism-related dietary preferences mediate autism-gut microbiome associations
Autism-related dietary preferences mediate autism-gut microbiome associations Open
View article: Human enteric nervous system progenitor transplantation restores functional responses in Hirschsprung Disease patient-derived tissue
Human enteric nervous system progenitor transplantation restores functional responses in Hirschsprung Disease patient-derived tissue Open
Objective Hirschsprung disease (HSCR) is a severe congenital disorder affecting 1:5000 live births. HSCR results from failure of enteric nervous system (ENS) progenitors to fully colonise the gastrointestinal tract during embryonic develop…
View article: Penalised regression improves imputation of cell-type specific expression using RNA-seq data from mixed cell populations compared to domain-specific methods
Penalised regression improves imputation of cell-type specific expression using RNA-seq data from mixed cell populations compared to domain-specific methods Open
Gene expression studies often use bulk RNA sequencing of mixed cell populations because single cell or sorted cell sequencing may be prohibitively expensive. However, mixed cell studies may miss expression patterns that are restricted to s…
View article: Role of CD14+ monocyte-derived oxidised mitochondrial DNA in the inflammatory interferon type 1 signature in juvenile dermatomyositis
Role of CD14+ monocyte-derived oxidised mitochondrial DNA in the inflammatory interferon type 1 signature in juvenile dermatomyositis Open
View article: Phylodynamics of Highly Pathogenic Avian Influenza A(H5N1) Virus Circulating in Indonesian Poultry
Phylodynamics of Highly Pathogenic Avian Influenza A(H5N1) Virus Circulating in Indonesian Poultry Open
After its first detection in 1996, the highly pathogenic avian influenza A(H5Nx) virus has spread extensively worldwide. HPAIv A(H5N1) was first detected in Indonesia in 2003 and has been endemic in poultry in this country ever since. Howe…
View article: Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology Open
View article: Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1 Open
View article: Additional file 1 of Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1
Additional file 1 of Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1 Open
Additional file 1: Supplementary Tables. Table S1: Significant risk loci detected from ALS case-control GWAS. Table S2: Lead SNPs identified from independent significant SNPs of ALS GWAS. Table S3: Independent significant SNPs at r2 < 0:6 …
View article: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology Open
View article: A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts
A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts Open
View article: Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia Open
View article: Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology Open
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a life-time risk of 1 in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry GWAS in ALS including 29,612 ALS patients an…
View article: Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics Open
We meta-analyze amyotrophic lateral sclerosis (ALS) genome-wide association study (GWAS) data of European and Chinese populations (84,694 individuals). We find an additional significant association between rs58854276 spanning ACSL5-ZDHHC6 …
View article: A comparison of ten polygenic score methods for psychiatric disorders applied across multiple cohorts
A comparison of ten polygenic score methods for psychiatric disorders applied across multiple cohorts Open
Background Polygenic scores (PGSs), which assess the genetic risk of individuals for a disease, are calculated as a weighted count of risk alleles identified in genome-wide association studies (GWASs). PGS methods differ in which DNA varia…
View article: Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis
Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis Open
View article: Functional Characterisation of a GWAS Risk Locus Identifies <i>GPX3</i> as a Lead Candidate Gene in ALS
Functional Characterisation of a GWAS Risk Locus Identifies <i>GPX3</i> as a Lead Candidate Gene in ALS Open
View article: Tissue specific regulation of transcription in endometrium and association with disease
Tissue specific regulation of transcription in endometrium and association with disease Open
STUDY QUESTION Are genetic effects on endometrial gene expression tissue specific and/or associated with reproductive traits and diseases? SUMMARY ANSWER Analyses of RNA-sequence data and individual genotype data from the endometrium ident…
View article: Maternal Multiple Micronutrient Supplementation Stabilizes Mitochondrial DNA Copy Number in Pregnant Women in Lombok, Indonesia
Maternal Multiple Micronutrient Supplementation Stabilizes Mitochondrial DNA Copy Number in Pregnant Women in Lombok, Indonesia Open
View article: Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases
Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases Open