Explanipedia

Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples Open

Tomas Axelsson, Filip Sydén, Jesper Eisfeldt, Ylva Eriksson, Gustav Göthner Lundberg , et al. · 2024

Objectives To investigate whether genetic analysis of focal barbotage samples obtained at ureterorenoscopy (URS) is possible, and to identify genetic aberrations that might add prognostic information. Methods This prospective study include…

An epidemiological and clinicopathological study of type 1 vs. type 2 morphological subtypes of papillary renal cell carcinoma– results from a nation-wide study covering 50 years in Iceland Open

Thorri Geir Runarsson, Andreas Bergmann, Gígja Erlingsdóttir, Vigdís Pétursdóttir, Leon Arnar Heitmann , et al. · 2024

Introduction Papillary renal cell carcinoma (pRCC) is the second most common histology of renal cell carcinoma (RCC), accounting for 10–15% of cases. Traditionally, pRCC is divided into type 1 and type 2, although this division is currentl…

Patient-specific targeted analysis of circulating tumour DNA in plasma is feasible and may be a potential biomarker in UTUC Open

Ninni Mu, Cecilia Jylhä, Tomas Axelsson, Filip Sydén, Marianne Brehmer , et al. · 2023

Consultation on UTUC II Stockholm 2022: diagnostics, prognostication, and follow-up—where are we today? Open

Filip Sydén, Joyce Baard, Matthew Bultitude, Francis X. Keeley, Morgan Rouprêt , et al. · 2023

Next generation pan-cancer blood proteome profiling using proximity extension assay Open

María Bueno Álvez, Fredrik Edfors, Kalle von Feilitzen, Martin Zwahlen, Adil Mardinoğlu , et al. · 2023

Next generation pan-cancer blood proteome profiling using proximity extension assay Open

Mathias Uhlén, María Bueno Álvez, Fredrik Edfors, Kalle von Feilitzen, Martin Zwahlen , et al. · 2022

Cancer is a highly heterogeneous disease in need of accurate and non-invasive diagnostic tools. Here, we describe a novel strategy to explore the proteome signature by comprehensive analysis of protein levels using a pan-cancer approach of…

Next Generation Plasma Proteomics Identifies High-Precision Biomarker Candidates for Ovarian Cancer Open

Ulf Gyllensten, Julia Hedlund‐Lindberg, Johanna Svensson, Johanna Manninen, Torbjörn Öst , et al. · 2022

Background: Ovarian cancer is the eighth most common cancer among women and has a 5-year survival of only 30–50%. The survival is close to 90% for patients in stage I but only 20% for patients in stage IV. The presently available biomarker…

Author Correction: The SEQC2 epigenomics quality control (EpiQC) study Open

Jonathan Foox, Jessica Nordlund, Claudia Lalancette, Ting Gong, Michelle Lacey , et al. · 2021

The SEQC2 epigenomics quality control (EpiQC) study Open

Jonathan Foox, Jessica Nordlund, Claudia Lalancette, Ting Gong, Michelle Lacey , et al. · 2021

Correction to: Consultation on kidney stones, Copenhagen 2019: lithotripsy in percutaneous nephrolithotomy Open

Tomas Axelsson, Cecilia Maria Cracco, Mahesh Desai, Mudhar N. Hasan, Thomas Knoll , et al. · 2020

In the original publication of the article, we inadvertently left the author Kay Thomas of the submission

The SEQC2 Epigenomics Quality Control (EpiQC) Study: Comprehensive Characterization of Epigenetic Methods, Reproducibility, and Quantification Open

Jonathan Foox, Jessica Nordlund, Claudia Lalancette, Ting Gong, Michelle Lacey , et al. · 2020

Cytosine modifications in DNA such as 5-methylcytosine (5mC) underlie a broad range of developmental processes, maintain cellular lineage specification, and can define or stratify cancer and other diseases. However, the wide variety of app…

Consultation on kidney stones, Copenhagen 2019: lithotripsy in percutaneous nephrolithotomy Open

Tomas Axelsson, Cecilia Maria Cracco, Mahesh Desai, Mudhar N. Hasan, Thomas Knoll , et al. · 2020

Novel genetic loci underlying human intracranial volume identified through genome-wide association Open

Hieab H.H. Adams, Derrek P. Hibar, Vincent Chouraki, Jason L. Stein, Paul Nyquist , et al. · 2020

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide associat…

Novel genetic loci associated with hippocampal volume Open

Derrek P. Hibar, Hieab H.H. Adams, Neda Jahanshad, Ganesh Chauhan, Jason L. Stein , et al. · 2020

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsych…

Genetic loci associated with heart rate variability and their effects on cardiac disease risk Open

Ilja M. Nolte, M. Loretto Muñoz, Vinicius Tragante, Azmeraw T. Amare, Rick Jansen , et al. · 2020

Reduced cardiac vagal control reflected in low heart rate variability (HRV) is associated with greater risks for cardiac morbidity and mortality. In two-stage meta-analyses of genome-wide association studies for three HRV traits in up to 5…

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals Open

Georg Ehret, Teresa Ferreira, Daniel I. Chasman, Anne Jackson, Ellen M. Schmidt , et al. · 2020

To dissect the genetic architecture of blood pressure and assess effects on target-organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry and genotypes from an additional 140…

Long-term outcomes after coronary artery bypass surgery in patients with diabetes Open

Tomas Axelsson, Jónas A. Aðalsteinsson, Linda Ó. Árnadóttir, Daði Helgason, Hera Jóhannesdóttir , et al. · 2020

OBJECTIVES Our aim was to investigate the outcome of patients with diabetes undergoing coronary artery bypass grafting (CABG) surgery in a whole population with main focus on long-term mortality and complications. METHODS This was a nation…

Genetic architecture of subcortical brain structures in 38,851 individuals Open

Claudia L. Satizábal, Hieab H.H. Adams, Derrek P. Hibar, Charles C. White, Maria J. Knol , et al. · 2019

Engin marktæk tengsl offitu og lifunar eftir kransæðahjáveituaðgerð Open

Þórdís Þorkelsdóttir, Hera Jóhannesdóttir, Linda Ó. Árnadóttir, Jónas A. Aðalsteinsson, Helga Gardarsdóttir , et al. · 2019

Severely obese and obese patients were significantly younger than those with a normal BMI, more often males with identifiable risk factors of coronary artery disease (CAD) and a lower EuroSCORE II (1.6 vs. 2.7, p=0.002). The incidence of m…

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide Open

Claudia L. Satizábal, Hieab H.H. Adams, Derrek P. Hibar, Charles C. White, Jason L. Stein , et al. · 2017

Subcortical brain structures are integral to motion, consciousness, emotions, and learning. We identified common genetic variation related to the volumes of nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen,…

Erratum: Genetic loci associated with heart rate variability and their effects on cardiac disease risk Open

Ilja M. Nolte, M. Loretto Muñoz, Vinicius Tragante, Azmeraw T. Amare, Rick Jansen , et al. · 2017

Sulfasalazine‐Induced Agranulocytosis Is Associated With the Human Leukocyte Antigen Locus Open

Mia Wadelius, Niclas Eriksson, Reinhold Kreutz, Emmanuelle Bondon‐Guitton, Luisa Ibáñez , et al. · 2017

Agranulocytosis is a serious, although rare, adverse reaction to sulfasalazine, which is used to treat inflammatory joint and bowel disease. We performed a genome‐wide association study comprising 9,380,034 polymorphisms and 180 HLA allele…

Genome-Wide Association Study of Angioedema Induced by Ace Inhibitors or Arbs in Sweden Open

Mia Wadelius, Niclas Eriksson, C. Johansson, Matilda Persson, Malgorzata Karawajczyk , et al. · 2017

Genetic loci associated with heart rate variability and their effects on cardiac disease risk Open

Ilja M. Nolte, M. Loretto Muñoz, Vinicius Tragante, Azmeraw T. Amare, Rick Jansen , et al. · 2017

Reduced cardiac vagal control reflected in low heart rate variability (HRV) is associated with greater risks for cardiac morbidity and mortality. In two-stage meta-analyses of genome-wide association studies for three HRV traits in up to 5…

Novel genetic loci associated with hippocampal volume Open

Derrek P. Hibar, Hieab H.H. Adams, Neda Jahanshad, Ganesh Chauhan, Jason L. Stein , et al. · 2017

Genetic Variants Associated with Angiotensin-Converting Enzyme Inhibitor-Induced Cough: A Genome-Wide Association Study in a Swedish Population Open

Pär Hallberg, Matilda Persson, Tomas Axelsson, Marco Cavalli, Pia Norling , et al. · 2017

Angiotensin-converting enzyme inhibitor-induced cough is potentially associated with genes that are independent of bradykinin pathways.

Novel genetic loci underlying human intracranial volume identified through genome-wide association Open

Hieab H.H. Adams, Derrek P. Hibar, Vincent Chouraki, Jason L. Stein, Paul Nyquist , et al. · 2016

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Open

Georg Ehret, Teresa Ferreira, Daniel I. Chasman, Anne Jackson, Ellen M. Schmidt , et al. · 2016

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals Open

Georg Ehret, Teresa Ferreira, Daniel I. Chasman, Anne Jackson, Ellen M. Schmidt , et al. · 2016

To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 14…

Genetic Determinants of Warfarin Maintenance Dose and Time in Therapeutic Treatment Range: A RE-LY Genomics Substudy Open

Niclas Eriksson, Lars Wallentin, Lars Berglund, Tomas Axelsson, Stuart J. Connolly , et al. · 2016

We identified two novel genes associated with warfarin maintenance dose and one gene associated with TTR. These genes need to be replicated in an independent cohort.

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