Explanipedia

Glucocorticoid receptors mediate reprogramming of astrocytes in depression Open

Sedef Dalbeyler, Aleksandra Herud, Bartosz Zglinicki, Patrycja Ziuzia, Marcin Piechota , et al. · 2025

Psychiatric disorders are among the most pressing problems of the modern society, with various forms of depression affecting more than 300 millions of people worldwide. Dysfunction of glial cells has consistently been reported in major dep…

A multi-regional human brain atlas of chromatin accessibility and gene expression facilitates promoter-isoform resolution genetic fine-mapping Open

Pengfei Dong, Liting Song, Jaroslav Bendl, Ruth Misir, Zhiping Shao , et al. · 2024

Brain region- and cell-specific transcriptomic and epigenomic features are associated with heritability for neuropsychiatric traits, but a systematic view, considering cortical and subcortical regions, is lacking. Here, we provide an atlas…

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations Open

Ville Salo, Juhani Määttä, Eeva Sliz, Aarno Palotie, Mark Daly , et al. · 2024

Given that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs, the genetic basis of LDH has received relatively little research. Our aim is to increase understanding…

BrainTACO: an explorable multi-scale multi-modal brain transcriptomic and connectivity data resource Open

Florian Ganglberger, Dominic Kargl, Markus Töpfer, J. Lucas y Hernandez, Nathan Lawless , et al. · 2024

Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women Open

Nina Mars, Sini Kerminen, Max Tamlander, Matti Pirinen, Eveliina Jakkula , et al. · 2024

PURPOSE Family history (FH) and pathogenic variants (PVs) are used for guiding risk surveillance in selected high-risk women but little is known about their impact for breast cancer screening on population level. In addition, polygenic ris…

High-Resolution Genotyping of Formalin-Fixed Tissue Accurately Estimates Polygenic Risk Scores in Human Diseases Open

Omar Youssef, Anu Loukola, Yossra H.S. Zidi-Mouaffak, Max Tamlander, Sanni Ruotsalainen , et al. · 2024

Formalin-fixed paraffin-embedded (FFPE) tissues stored in biobanks and pathology archives are a vast but underutilized source for molecular studies on different diseases. Beyond being the "gold standard" for preservation of diagnostic huma…

NTHL1 is a recessive cancer susceptibility gene Open

Anna Nurmi, Liisa M. Pelttari, Johanna I. Kiiski, Sofia Khan, Mika Nurmikolu , et al. · 2023

In search of novel breast cancer (BC) risk variants, we performed a whole-exome sequencing and variant analysis of 69 Finnish BC patients as well as analysed loss-of-function variants identified in DNA repair genes in the Finns from the Ge…

A FinnGen pilot clinical recall study for Alzheimer’s disease Open

Valtteri Julkunen, Claudia Schwarz, Juho Kalapudas, Merja Hallikainen, Aino‐Kaisa Piironen , et al. · 2023

Data Resource Profile: Nationwide registry data for high-throughput epidemiology and machine learning (FinRegistry) Open

Essi Viippola, Sara Kuitunen, Rodosthenis S. Rodosthenous, Andrius Vabalas, Tuomo Hartonen , et al. · 2023

The public health impact of poor sleep on severe COVID-19, influenza and upper respiratory infections Open

Samuel E. Jones, Fahrisa I. Maisha, Satu Strausz, Vilma Lammi, Brian E. Cade , et al. · 2023

Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy Open

Jaakko Tyrmi, Tea Kaartokallio, A. Inkeri Lokki, Tiina Jääskeläinen, Eija Kortelainen , et al. · 2023

Importance A genetic contribution to preeclampsia susceptibility has been established but is still incompletely understood. Objective To disentangle the underlying genetic architecture of preeclampsia and preeclampsia or other maternal hyp…

Major Genetic Risk Factors for Dupuytren's Disease Are Inherited From Neandertals Open

Richard Ågren, Snehal Patil, Xiang Zhou, Aarno Palotie, Mark J. Daly , et al. · 2023

Dupuytren's disease is characterized by fingers becoming permanently bent in a flexed position. Whereas people of African ancestry are rarely afflicted by Dupuytren's disease, up to ∼30% of men over 60 years suffer from this condition in n…

Risk of Midlife Stroke After Adverse Pregnancy Outcomes: The FinnGen Study Open

Eliza C. Miller, Anni Kauko, Sarah E. Tom, Hannele Laivuori, Teemu Niiranen , et al. · 2023

BACKGROUND: Adverse pregnancy outcomes (APO) contribute to higher risk of maternal cerebrovascular disease, but longitudinal data that include APO and stroke timing are lacking. We hypothesized that APO are associated with younger age at f…

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy Open

Hanna M. Ollila, Eilon Sharon, Ling Lin, Nasa Sinnott-Armstrong, Aditya Ambati , et al. · 2023

BrainTACO: An Explorable Multi-Scale Multi-Modal Brain Transcriptomic And Connectivity Data Resource Open

Florian Ganglberger, Markus Toepfer, Dominic Kargl, J. Lucas y Hernandez, Nathan Lawless , et al. · 2023

Exploring the relationships between genes, brain circuitry, and behaviour is accelerated by the joint analysis of a heterogeneous sets form 3D imaging data, anatomical data, and brain networks at varying scales, res-olutions, and modalitie…

Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population Open

Mitja Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä, Kati Kristiansson , et al. · 2023

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata Open

Eeva Sliz, Jaakko Tyrmi, Nilüfer Rahmioğlu, Krina T. Zondervan, Christian M. Becker , et al. · 2023

FinnGen provides genetic insights from a well-phenotyped isolated population Open

Mitja Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä, Kati Kristiansson , et al. · 2023

Transcriptome and chromatin accessibility landscapes across 25 distinct human brain regions expand the susceptibility gene set for neuropsychiatric disorders Open

Pengfei Dong, Jaroslav Bendl, Ruth Misir, Zhiping Shao, Jonathan Edelstien , et al. · 2022

Brain region- and cell-specific transcriptomic and epigenomic molecular features are associated with heritability for neuropsychiatric traits, but a systematic view, considering cortical and subcortical regions, is lacking. Here, we provid…

Knowledge Graphs for Indication Expansion: An Explainable Target-Disease Prediction Method Open

Özge Gürbüz, Gregorio Alanis‐Lobato, Sergio Picart‐Armada, Miao Sun, Christian Haslinger , et al. · 2022

Indication expansion aims to find new indications for existing targets in order to accelerate the process of launching a new drug for a disease on the market. The rapid increase in data types and data sources for computational drug discove…

FinnGen: Unique genetic insights from combining isolated population and national health register data Open

Mitja Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä, Kati Kristiansson , et al. · 2022

Population isolates such as Finland provide benefits in genetic studies because the allelic spectrum of damaging alleles in any gene is often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%), wh…

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes Open

Max Tamlander, Nina Mars, Matti Pirinen, Aarno Palotie, Mark J. Daly , et al. · 2022

TREM2 impacts brain microglia, oligodendrocytes and endothelial co-expression modules revealing genes and pathways important in Alzheimer’s disease Open

Guillermo Carbajosa, Karim Malki, Nathan Lawless, Hong Wang, John Ryder , et al. · 2021

A microglia response to pathogenic signals in diseases such as Alzheimer’s disease (AD) has long been recognised, but recent genetic findings have cemented their direct causal contribution to AD and thus the potential to target them or the…

HieRFIT: Hierarchical Random Forest for Information Transfer Open

Yasin Kaymaz, Florian Ganglberger, Ming Tang, Francesc Fernández-Albert, Nathan Lawless , et al. · 2020

The emergence of single-cell RNA sequencing (scRNA-seq) has led to an explosion in novel methods to study biological variation among individual cells, and to classify cells into functional and biologically meaningful categories. Here, we p…

REM sleep’s unique associations with corticosterone regulation, apoptotic pathways, and behavior in chronic stress in mice Open

Mathieu Nollet, Harriet Hicks, Andrew McCarthy, Huihai Wu, Carla S. Möller‐Levet , et al. · 2019

One of sleep’s putative functions is mediation of adaptation to waking experiences. Chronic stress is a common waking experience; however, which specific aspect of sleep is most responsive, and how sleep changes relate to behavioral distur…

Correlation of miRNA expression with intensity of neuropathic pain in man Open

Diana Tavares‐Ferreira, Nathan Lawless, Emma V. Bird, Simon Atkins, David Collier , et al. · 2019

Background Peripheral nerve injury causes changes in expression of multiple receptors and mediators that participate in pain processing. We investigated the expression of microRNAs (miRNAs) – a class of post-transcriptional regulators invo…

REM sleep: unique associations with behavior, corticosterone regulation and apoptotic pathways in chronic stress in mice Open

Mathieu Nollet, Harriet Hicks, Andrew McCarthy, Huihai Wu, Carla S. Möller‐Levet , et al. · 2018

One of sleep’s putative functions is mediation of adaptation to waking experiences. Chronic stress is a common waking experience, however, which specific aspect of sleep is most responsive, and how sleep changes relate to behavioral distur…

Loss of Trem2 in microglia leads to widespread disruption of cell coexpression networks in mouse brain Open

Guillermo Carbajosa, Karim Malki, Nathan Lawless, Hong Wang, John Ryder , et al. · 2018

Loss of Trem2 in microglia leads to widespread disruption of cell co-expression networks in mouse brain Open

Guillermo Carbajosa, Karim Malki, Nathan Lawless, Hong Wang, John Ryder , et al. · 2018

Rare heterozygous coding variants in the Triggering Receptor Expressed in Myeloid cells 2 (TREM2) gene, conferring increased risk of developing late-onset Alzheimer's disease, have been identified. We examined the transcriptional consequen…

Accurate characterization of the IFITM locus using MiSeq and PacBio sequencing shows genetic variation in Galliformes Open

Irene Bassano, Swee Hoe Ong, Nathan Lawless, Thomas James Whitehead, Mark Fife , et al. · 2017

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