Cecilia M. Lindgren
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View article: Long-Term Impact of Total Hip Arthroplasty on Subsequent Lumbar Spine Surgery in Patients with Hip-Spine Disease: A Nationwide Analysis of Risk Factors and Outcomes
Long-Term Impact of Total Hip Arthroplasty on Subsequent Lumbar Spine Surgery in Patients with Hip-Spine Disease: A Nationwide Analysis of Risk Factors and Outcomes Open
Study Design Retrospective cohort study. Objective To evaluate whether undergoing total hip arthroplasty (THA) influences the risk of subsequent lumbar intervention in patients with lumbar degenerative disease (LDD) and hip osteoarthritis …
View article: Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution
Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution Open
Overall adiposity and body fat distribution are heritable traits associated with altered risk of cardiometabolic disease and mortality. Performing rare-variant (minor allele frequency <1%) association testing using exome-sequencing data fr…
View article: Reasoning Over Pre-training: Evaluating LLM Performance and Augmentation in Women’s Health
Reasoning Over Pre-training: Evaluating LLM Performance and Augmentation in Women’s Health Open
Recent advances in large language models (LLMs) show promise in clinical applications, but their performance in women’s health remains underexamined 1 . We evaluated LLMs on 2,337 questions from obstetrics and gynaecology, including 1,392 …
View article: Tolerogenic antigen-specific vaccine induces VISTA-enriched regulatory T cells and protects against arthritis in DRB1∗04:01 mice
Tolerogenic antigen-specific vaccine induces VISTA-enriched regulatory T cells and protects against arthritis in DRB1∗04:01 mice Open
View article: Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum Open
Genome-wide association studies (GWASs) may help inform the etiology of infertility. Here, we perform GWAS meta-analyses across seven cohorts in up to 42,629 cases and 740,619 controls and identify 25 genetic risk loci for male and female …
View article: Linker Design Principles for the Precision Targeting of Oncogenic G-Quadruplex DNA with G4-Ligand-Conjugated Oligonucleotides
Linker Design Principles for the Precision Targeting of Oncogenic G-Quadruplex DNA with G4-Ligand-Conjugated Oligonucleotides Open
G-quadruplex (G4) DNA structures are noncanonical secondary structures found in key regulatory regions of the genome, including oncogenic promoters and telomeres. Small molecules, known as G4 ligands, capable of stabilizing G4s hold promis…
View article: Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes
Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes Open
View article: Scalable Deep Learning of Histology Images Reveals Genetic and Phenotypic Determinants of Adipocyte Hypertrophy
Scalable Deep Learning of Histology Images Reveals Genetic and Phenotypic Determinants of Adipocyte Hypertrophy Open
Background White adipose tissue dysfunction has emerged as a critical factor in cardiometabolic disease development, yet the cellular microstructure and genetic architecture of adipocyte morphology remain poorly explored. Methods We introd…
View article: Potent and Selective Indole-based Inhibitors Targeting Disease-Transmitting Mosquitoes
Potent and Selective Indole-based Inhibitors Targeting Disease-Transmitting Mosquitoes Open
Vector control with insecticides is an important preventive measure against mosquito borne-infectious diseases, such as malaria and dengue. The intensive usage of few insecticides has resulted in emerging resistance in...
View article: RAB3GAP2 is a Regulator of Skeletal Muscle Endothelial Cell Proliferation and Associated with Capillary Density
RAB3GAP2 is a Regulator of Skeletal Muscle Endothelial Cell Proliferation and Associated with Capillary Density Open
View article: Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy Open
Dilated cardiomyopathy (DCM) is a leading cause of heart failure and cardiac transplantation. We report a genome-wide association study and multi-trait analysis of DCM (14,256 cases) and three left ventricular traits (36,203 UK Biobank par…
View article: Human monocyte subtype expression of neuroinflammation- and regeneration-related genes is linked to age and sex
Human monocyte subtype expression of neuroinflammation- and regeneration-related genes is linked to age and sex Open
Aging profoundly affects the immune system leading to an increased propensity for inflammation. Age-related dysregulation of immune cells is implicated in the development and progression of numerous age-related diseases such as: cardiovasc…
View article: Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution
Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution Open
Overall adiposity and body fat distribution are heritable traits associated with altered risk of cardiometabolic disease and mortality. Performing rare variant (minor allele frequency<1%) association testing using exome-sequencing data fro…
View article: Genome-wide analysis identifies 66 variants underlying anatomical variation in human neuroendocrine structures and reveals links to testosterone
Genome-wide analysis identifies 66 variants underlying anatomical variation in human neuroendocrine structures and reveals links to testosterone Open
The hypothalamus, pituitary gland and olfactory bulbs are neuroanatom-ical structures key to the regulation of the endocrine system. Variation in their anatomy can affect the function of the reproductive system. To investigate this relatio…
View article: Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage
Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage Open
View article: Characterising the genetic architecture of changes in adiposity during adulthood using electronic health records
Characterising the genetic architecture of changes in adiposity during adulthood using electronic health records Open
View article: Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank
Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank Open
The phenotypic impact of compound heterozygous (CH) variation has not been investigated at the population scale. We phased rare variants (MAF ∼0.001%) in the UK Biobank (UKBB) exome-sequencing data to characterize recessive effects in 175,…
View article: Spatiotemporal sphingosine-1-phosphate receptor 3 expression within the cerebral vasculature after ischemic stroke
Spatiotemporal sphingosine-1-phosphate receptor 3 expression within the cerebral vasculature after ischemic stroke Open
View article: ”Nämen vadå, det är ju så här vi lever alltid”: föräldrar till barn med neuropsykiatriska funktionsnedsättningar berättar om fritiden under covid-19-pandemin
”Nämen vadå, det är ju så här vi lever alltid”: föräldrar till barn med neuropsykiatriska funktionsnedsättningar berättar om fritiden under covid-19-pandemin Open
Den här artikeln bygger på intervjuer med föräldrar till barn i åldern 7–12 år med neuropsykiatriska funktionsnedsättningar (NPF) och visar hur covid-19-pandemin påverkade fritiden för barnen och deras familjer. Genom ett fokus på de excep…
View article: Mapping cell-to-tissue graphs across human placenta histology whole slide images using deep learning with HAPPY
Mapping cell-to-tissue graphs across human placenta histology whole slide images using deep learning with HAPPY Open
Accurate placenta pathology assessment is essential for managing maternal and newborn health, but the placenta’s heterogeneity and temporal variability pose challenges for histology analysis. To address this issue, we developed the ‘Histol…
View article: Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum
Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum Open
Genome-wide association studies (GWASs) may help inform treatments for infertility, whose causes remain unknown in many cases. Here we present GWAS meta-analyses across six cohorts for male and female infertility in up to 41,200 cases and …
View article: Human monocyte subtype expression of neuroinflammation and regeneration-related genes is linked to age and sex
Human monocyte subtype expression of neuroinflammation and regeneration-related genes is linked to age and sex Open
Stroke is a leading cause of disability and the third cause of death. The immune system plays an essential role in post-stroke recovery. After an ischemic stroke, monocytes infiltrate the injured brain tissue and can exacerbate or mitigate…
View article: Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry Open
Background Polycystic ovary syndrome (PCOS) is a complex multifactorial disorder with a substantial genetic component. However, the clinical manifestations of PCOS are heterogeneous with notable differences between lean and obese women, im…
View article: Diversity in genetic risk of recurrent stroke: a genome-wide association study meta-analysis
Diversity in genetic risk of recurrent stroke: a genome-wide association study meta-analysis Open
Introduction Stroke is a leading cause of death and disability worldwide. Recurrent strokes are seven times more lethal than initial ones, with 54% leading to long-term disability. Substantial recurrent stroke risk disparities exist among …
View article: Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies Open
Chronic kidney disease (CKD) affects ~10% of the global population, with considerable ethnic differences in prevalence and aetiology. We assemble genome-wide association studies of estimated glomerular filtration rate (eGFR), a measure of …
View article: HAPPY: a deep learning pipeline for mapping cell-to-tissue graphs across placenta histology whole slide images
HAPPY: a deep learning pipeline for mapping cell-to-tissue graphs across placenta histology whole slide images Open
These two zipped folders contain all data necessary to train, validate and reproduce results from the paper. Unzipping the files will create 6 folders. Data from folders with the same name across both zips should be combined into one folde…
View article: HAPPY: a deep learning pipeline for mapping cell-to-tissue graphs across placenta histology whole slide images
HAPPY: a deep learning pipeline for mapping cell-to-tissue graphs across placenta histology whole slide images Open
These two zipped folders contain all data necessary to train, validate and reproduce results from the paper. Unzipping the files will create 6 folders. Data from folders with the same name across both zips should be combined into one folde…
View article: Prospective study design and data analysis in UK Biobank
Prospective study design and data analysis in UK Biobank Open
Population-based prospective studies, such as UK Biobank, are valuable for generating and testing hypotheses about the potential causes of human disease. We describe how UK Biobank’s study design, data access policies, and approaches to st…
View article: Mapping the aetiological foundations of the heart failure spectrum using human genetics
Mapping the aetiological foundations of the heart failure spectrum using human genetics Open
Summary paragraph Heart failure (HF), a syndrome of symptomatic fluid overload due to cardiac dysfunction, is the most rapidly growing cardiovascular disorder. Despite recent advances, mortality and morbidity remain high and treatment inno…
View article: Genome-wide association analysis reveals insights into the molecular etiology underlying dilated cardiomyopathy
Genome-wide association analysis reveals insights into the molecular etiology underlying dilated cardiomyopathy Open
Dilated cardiomyopathy (DCM) is a clinical disorder characterised by reduced contractility of the heart muscle that is not explained by coronary artery disease or abnormal haemodynamic loading. Although Mendelian disease is well described,…