Results 81 to 90 of about 15,568 (286)

STAT2 deficiency and susceptibility to viral illness in humans [PDF]

open access: yes, 2013
Severe infectious disease in children may be a manifestation of primary immunodeficiency. These genetic disorders represent important experiments of nature with the capacity to elucidate nonredundant mechanisms of human immunity.
Cant, Andrew J   +11 more
core   +3 more sources

From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia

open access: yesBiomédica: revista del Instituto Nacional de Salud
Introduction. Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient. Objective.
Mónica Fernandes Pineda   +1 more
doaj   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam   +4 more
wiley   +1 more source

Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. [PDF]

open access: yes, 2016
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Angarita, Stephanie Ak   +14 more
core   +3 more sources

An open‐label, single‐arm, dose‐escalating concentration–QT study to investigate the cardiac effects and safety of paroxetine in healthy adults

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Aims Paroxetine is a selective serotonin reuptake inhibitor (SSRI), approved for treatment of major depressive disorder and anxiety disorders. Some SSRIs are known to prolong the QT interval; however, clinical evidence to establish a lack of association between paroxetine and corrected QT interval (QTc) prolongation is limited. Therefore, this
Sven C. van Dijkman   +6 more
wiley   +1 more source

TYK2-induced phosphorylation of Y640 suppresses STAT3 transcriptional activity [PDF]

open access: yes, 2017
STAT3 is a pleiotropic transcription factor involved in homeostatic and host defense processes in the human body. It is activated by numerous cytokines and growth factors and generates a series of cellular effects.
De Bosscher, Karolien   +7 more
core   +3 more sources

Tacrolimus exposure during pregnancy in kidney and liver transplantation recipients: A comparison between whole blood and plasma concentration‐to‐dose ratios

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Tacrolimus monitoring is generally performed in whole blood (WB). Most (>85%) of circulating tacrolimus is bound to red blood cells. During pregnancy, WB monitoring might be suboptimal because of physiological changes including increased plasma volume and decreased haematocrit.
Jildau R. Meinderts   +7 more
wiley   +1 more source

Rise and fall of Achille de Giovanni\u2019s clinical anthropometry [PDF]

open access: yes, 2018
Achille de Giovanni (1838-1916), Italian clinician and pathologist, developed a constitutional method for clinical investigations based on the morphology of the human body.
Zampieri, Fabio
core  

The impacts of biological invasions

open access: yesBiological Reviews, EarlyView.
ABSTRACT The Anthropocene is characterised by a continuous human‐mediated reshuffling of the distributions of species globally. Both intentional and unintentional introductions have resulted in numerous species being translocated beyond their native ranges, often leading to their establishment and subsequent spread – a process referred to as biological
Phillip J. Haubrock   +42 more
wiley   +1 more source

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

open access: yesBiological Reviews, EarlyView.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke   +2 more
wiley   +1 more source

Home - About - Disclaimer - Privacy