Results 51 to 60 of about 5,880 (138)

Deconvolution of bulk blood eQTL effects into immune cell subpopulations

BMC Bioinformatics, 2020
Background Expression quantitative trait loci (eQTL) studies are used to interpret the function of disease-associated genetic risk factors. To date, most eQTL analyses have been conducted in bulk tissues, such as whole blood and tissue biopsies, which ...
Raúl Aguirre-Gamboa, Niek de Klein, Jennifer di Tommaso, Annique Claringbould, Monique GP van der Wijst, Dylan de Vries, Harm Brugge, Roy Oelen, Urmo Võsa, Maria M. Zorro, Xiaojin Chu, Olivier B. Bakker, Zuzanna Borek, Isis Ricaño-Ponce, Patrick Deelen, Cheng-Jiang Xu, Morris Swertz, Iris Jonkers, Sebo Withoff, Irma Joosten, Serena Sanna, Vinod Kumar, Hans J. P. M. Koenen, Leo A. B. Joosten, Mihai G. Netea, Cisca Wijmenga, BIOS Consortium, Lude Franke, Yang Li   +28 more
doaj   +1 more source

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova, Kunka Kamenarova, Nevyana Veleva‐Krasteva, Kalina Mihova, Yoanna Kaneva, Reni Tzveova, Martin Georgiev, Delyan Georgiev, Ivanka Dimova, Alexander Oscar, Radka Kaneva   +10 more
wiley   +1 more source

Development of an international Core Outcome Set (COS) for best care for the dying person: study protocol

BMC Palliative Care, 2020
Background In contrast to typical measures employed to assess outcomes in healthcare such as mortality or recovery rates, it is difficult to define which specific outcomes of care are the most important in caring for dying individuals.
Sofia C. Zambrano, Dagny Faksvåg Haugen, Agnes van der Heide, Vilma A. Tripodoro, John Ellershaw, Carl Johan Fürst, Raymond Voltz, Stephen Mason, María L. Daud, Gustavo De Simone, Kerstin Kremeike, Svandis Iris Halfdanardottir, Valgerdur Sigurdardottir, Jeremy Johnson, Simon Allan, Haroon Hafeez, Catarina Simões, Katrin Ruth Sigurdardottir, Birgit H. Rasmussen, Paula Williamson, Steffen Eychmüller, in collaboration with the iLIVE consortium   +21 more
doaj   +1 more source

Capturing the Multi‐Decadal Evolution of Glacier–Permafrost Interactions in a High‐Alpine Environment (Ritord, Western Swiss Alps)

Permafrost and Periglacial Processes, Volume 37, Issue 3, Page 473-497, July/September 2026.
ABSTRACT This study investigates the multi‐decadal evolution of a glacier forefield under permafrost conditions in the Combins Massif (western Swiss Alps). A multi‐method approach based on historical and recent datasets is used to analyze its landform components.
Julie Wee, Hanne Hendrickx, Sebastián Vivero   +2 more
wiley   +1 more source

Counterion Effects Enable Divergent Pd‐Catalyzed Carbonylative Cyclization of Amide‐Tethered o‐Alkynylphenols

Advanced Synthesis &Catalysis, Volume 368, Issue 11, 3 June 2026.
The catalytic carbonylation of alkynes is a powerful route to heteroaromatic scaffolds, yet achieving regioselectivity remains challenging. Herein, we report a divergent carbonylative cyclization of 2‐alkynylphenol derivatives that affords either coumarins (6‐endo‐dig) or 2‐coumaranones (5‐exo‐dig) by tuning the palladium‐based catalytic system. Pd(OAc)
Aleksandr Voronov, Filippo Sacchelli, Diego Olivieri, Ana Maria Constantin, Paolo Pio Mazzeo, Raffaella Mancuso, Bartolo Gabriele, Carla Carfagna, Riccardo Tarroni, Luca Capaldo, Valerio Morlacci, Nicola Della Ca’   +11 more
wiley   +1 more source

The effect of family-centered care on unplanned emergency room visits, hospital readmissions and intensive care admissions after surgery: a root cause analysis from a prospective multicenter study in the Netherlands

Patient Safety in Surgery
Background Optimizing transitional care by practicing family-centered care might reduce unplanned events for patients who undergo major abdominal cancer surgery. However, it remains unknown whether involving family caregivers in patients’ healthcare also
Sani Marijke Kreca, Iris Sophie Albers, Selma Clazina Wilhelmina Musters, Els Jaqueline Maria Nieveen van Dijkum, Pieter Roel Tuinman, Anne Maria Eskes, on behalf of the ARTIS consortium   +6 more
doaj   +1 more source

MAIT cells are activated during human viral infections

Nature Communications, 2016
Mucosal Associated Invariant T cells have been implicated in response to bacterial pathogens. Here the authors show that in human viral infections, these cells are activated by IL-18 in cooperation with other pro-inflammatory cytokines, producing ...
Bonnie van Wilgenburg, Iris Scherwitzl, Edward C. Hutchinson, Tianqi Leng, Ayako Kurioka, Corinna Kulicke, Catherine de Lara, Suzanne Cole, Sirijitt Vasanawathana, Wannee Limpitikul, Prida Malasit, Duncan Young, Laura Denney, STOP-HCV consortium, Michael D. Moore, Paolo Fabris, Maria Teresa Giordani, Ye Htun Oo, Stephen M. Laidlaw, Lynn B. Dustin, Ling-Pei Ho, Fiona M. Thompson, Narayan Ramamurthy, Juthathip Mongkolsapaya, Christian B. Willberg, Gavin R. Screaton, Paul Klenerman   +26 more
doaj   +1 more source

Psychiatrists effect on positive symptom severity and daily functioning during pharmacotherapy for first-episode psychosis patients

Scientific Reports
Clinical outcomes after a first-episode of psychosis (FEP) are heterogeneous. Many patient-related factors such as gender and comorbidity have been studied to predict symptomatic outcomes.
Franciska de Beer, Sanne Koops, Robert A. Schoevers, Wim Veling, Nico van Beveren, Lieuwe de Haan, Nynke Boonstra, Martijn Kikkert, Marieke J. H. Begemann, HAMLETT-OPHELIA Consortium, Joran Lokkerbol, Iris E. C. Sommer   +11 more
doaj   +1 more source

Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1

Annals of Clinical and Translational Neurology, 2019
Objective Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism‐based treatments.
Jonathan M. Payne, Stephen J. C. Hearps, Karin S. Walsh, Iris Paltin, Belinda Barton, Nicole J. Ullrich, Kristina M. Haebich, David Coghill, Gerard A. Gioia, Alan Cantor, Gary Cutter, James H. Tonsgard, David Viskochil, Celiane Rey‐Casserly, Elizabeth K. Schorry, Joseph D. Ackerson, Laura Klesse, Michael J. Fisher, David H. Gutmann, Tena Rosser, Roger J. Packer, Bruce Korf, Maria T. Acosta, Kathryn N. North, the NF Clinical Trials Consortium   +24 more
doaj   +1 more source

Pathogen-specific epidemiology and clinical trajectories of fungal infections after kidney transplantation: a prospective multicenter cohort study

BMC Infectious Diseases
Background Fungal infections contribute substantially to morbidity and mortality after kidney transplantation, yet pathogen-specific epidemiology and clinical risk profiles remain incompletely defined.
Iris Schröter, Daniela Schindler, Christian Morath, Lutz Renders, Joachim Andrassy, Nele Kanzelmeyer, Anja Schork, Martin Zeier, Thomas Giese, Claudia Sommerer, for the Transplant Cohort of the German Center for Infection Research (DZIF Transplant Cohort) Consortium   +10 more
doaj   +1 more source