[HTML][HTML] Juvenile idiopathic arthritis-associated genetic loci exhibit spatially constrained gene regulatory effects across multiple tissues and immune cell types

N Pudjihartono, D Ho, E Golovina, T Fadason… - Journal of …, 2023 - Elsevier
Juvenile idiopathic arthritis (JIA) is an autoimmune, inflammatory joint disease with complex
genetic etiology. Previous GWAS have found many genetic loci associated with JIA …

Discovering genetic mechanisms underlying the co-occurrence of Parkinson's disease and non-motor traits

S Gokuladhas, T Fadason, S Farrow, A Cooper… - npj Parkinson's …, 2024 - nature.com
Understanding the biological mechanisms that underlie the non-motor symptoms of
Parkinson's disease (PD) requires comprehensive frameworks that unravel the complex …

Analysis of associations between the TLR3 SNPs rs3775291 and rs3775290 and COVID-19 in a cohort of professionals of Belém-PA, Brazil

MJA Silva, MCS Vieira, AB Souza… - Frontiers in Cellular …, 2023 - frontiersin.org
The objective of this article was to verify associations between the SNPs rs3775291
(Cytosine [C]> Thymine [T]) and rs3775290 (C> T) of TLR3 in professionals from Health …

A genome-wide association study of neutrophil count in individuals associated to an African continental ancestry group facilitates studies of malaria pathogenesis

AE Constantinescu, DA Hughes, CJ Bull, K Fleming… - Human Genomics, 2024 - Springer
Background'Benign ethnic neutropenia'(BEN) is a heritable condition characterized by lower
neutrophil counts, predominantly observed in individuals of African ancestry, and the genetic …

[HTML][HTML] A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder—hypertriglyceridemia

M Ueda - Translational Pediatrics, 2024 - pmc.ncbi.nlm.nih.gov
The completion of the Human Genome Project and tremendous advances in automated high-
throughput genetic analysis technologies have enabled explosive progress in the field of …

Identification of 27 allele-specific regulatory variants in Parkinson's disease using a massively parallel reporter assay

SL Farrow, S Gokuladhas, W Schierding… - npj Parkinson's …, 2024 - nature.com
Genome wide association studies (GWAS) have identified a number of genomic loci that are
associated with Parkinson's disease (PD) risk. However, the majority of these variants lie in …

De novo identification of complex traits associated with asthma

RE Zaied, T Fadason, JM O'Sullivan - Frontiers in Immunology, 2023 - frontiersin.org
Introduction Asthma is a heterogeneous inflammatory disease often associated with other
complex phenotypes. Identifying asthma-associated diseases and uncovering the molecular …

A high-performance computational workflow to accelerate GATK SNP detection across a 25-genome dataset

Y Zhou, N Kathiresan, Z Yu, LF Rivera, Y Yang… - BMC biology, 2024 - Springer
Abstract Background Single-nucleotide polymorphisms (SNPs) are the most widely used
form of molecular genetic variation studies. As reference genomes and resequencing data …

Unspecified asthma, childhood-onset, and adult-onset asthma have different causal genes: a Mendelian randomization analysis

RE Zaied, S Gokuladhas, C Walker… - Frontiers in …, 2024 - frontiersin.org
Introduction Asthma is a heterogeneous condition that is characterized by reversible airway
obstruction. Childhood-onset asthma (COA) and adult-onset asthma (AOA) are two …

Highly homologous miR-135a and miR-135b converting non-small cell lung cancer from suppression to progression via enhancer switching

K Zhou, W Li, L Chen, S Chen, M Liu… - Human Molecular …, 2024 - academic.oup.com
Abstract microRNAs (miRNAs) are short non-coding RNAs that have been increasingly
recognized for their significant roles in the progression of cancer. Distinct miRNAs exhibit …