Results 81 to 90 of about 31,972 (221)

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

Identification of drug repurposing candidates for the treatment of polycystic kidney disease

British Journal of Pharmacology, EarlyView.
Background and Purpose Autosomal dominant polycystic kidney disease (ADPKD) is a leading cause of end‐stage renal disease with limited treatment options. Drug repurposing offers a promising strategy to find effective treatments. Experimental Approach We identified birinapant, bardoxolone methyl and salicylic acid as repurposing candidates for ADPKD and
Alina Meyer, Paraskevi Sotiropoulou, Koussai Bouker, Dennis Svedberg, Rebekkah Hammar, Hester Bange, Per Larsson, André Mateus, Daniel R. Dietrich, Per Artursson   +9 more
wiley   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, EarlyView.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

Triple combination cystic fibrosis transmembrane receptor modulator effects on glycaemia and insulin kinetics in cystic fibrosis with and without diabetes

Internal Medicine Journal, EarlyView.
Abstract Background Greater insight into the effects of cystic fibrosis (CF) transmembrane modulators such as elexacaftor‐tezacaftor‐ivacaftor (ETI) on glucose metabolism can support a more dynamic and individualised approach to CF‐related dysglycaemia.
Yi W. Chen, Rachel Prasad, Peter G. Middleton, D. Jane Holmes‐Walker   +3 more
wiley   +1 more source

Transcriptomic profiling of gill biopsies to define predictive markers for seawater survival in farmed Atlantic salmon

Journal of Fish Biology, EarlyView.
Abstract Wild Atlantic salmon migrate to sea following completion of a developmental process known as parr‐smolt transformation (PST), which establishes a seawater (SW) tolerant phenotype. Effective imitation of this aspect of anadromous life history is a crucial aspect of commercial salmon production, with current industry practice being marred by ...
Lars Grønvold, Mattis J. van Dalum, Anja Striberny, Domniki Manousi, Trine Ytrestøyl, Turid Mørkøre, Solomon Boison, Bjarne Gjerde, Even Jørgensen, Simen R. Sandve, David G. Hazlerigg   +10 more
wiley   +1 more source

Expression of corticoid‐regulatory genes in the gills of Atlantic salmon (Salmo salar) parr and smolt and during salinity acclimation

Journal of Fish Biology, EarlyView.
Abstract In teleost fishes, cortisol is the major corticoid and has both glucocorticoid and mineralocorticoid actions. However, how fish tissues discriminate between these distinct corticosteroid actions is unclear. In mammals, the major factors responsible for intracellular corticosteroid regulation are glucocorticoid receptors (grs) and the ...
Makoto Kusakabe, Takashi Yada, Graham Young, Amy M. Regish, Stephen D. McCormick   +4 more
wiley   +1 more source

What Is a Paediatrician? Reflection on the Specialty of Paediatrics

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT A paediatrician is a specialist medical practitioner committed to the health and well‐being of infants, children and young people. However, curricula for training in paediatrics are predominantly process and content focussed, with some emphasis on professional behaviours, but because of their length do not distil the essence of what it is to ...
John Massie
wiley   +1 more source

Cystic fibrosis therapy: from symptoms to the cause of the disease

Вавиловский журнал генетики и селекции
Cystic fibrosis (CF) is a disease with a broad clinical and genetic spectrum of manifestations, significantly impacting the quality and duration of life of patients.
T N. Kireeva, D. I. Zhigalina, N. A. Skryabin   +2 more
doaj   +1 more source

Genetic aspects of digestive diseases. Part 1

Терапевтический архив, 2010
The paper presents the data available in the literature on mutations in known genes in pancreatitis, such as cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (PSTI/SPINK1), cystic fibrosis (CFTR), and apolipoprotein E (APOE) genes, as
Irina Nikolaevna Grigor'eva, Tat'yana Mikhaylovna Nikitenko, Aleksandr Vilenovich Tikhonov, Tat'yana Ivanovna Romanova, V N Maksimov, Elena Vladimirovna Shakhtshneyder, Sof'ya Konstantinovna Malyutina, Mikhail Ivanovich Voevoda, I N Grigoryeva, T M Nikitenko, A V Tikhonov, T I Romanova, V N Maksimov, E V Shakhtshneider, S K Malyutina, M I Voyevoda   +15 more
doaj  

The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients

Balkan Journal of Medical Genetics
Cystic fibrosis (CF) is a genetic disease characterized by a wide spectrum of severity, resulting from the inheritance of a mutant allele of the gene for cystic fibrosis transmembrane conductance regulator (CFTR).
Kasmi I, Kasmi G, Basholli B, Sefa HS, Vevecka E   +4 more
doaj   +1 more source