Results 141 to 150 of about 491,712 (299)

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

How Are Australian Local Governments Responding to the Homelessness Crisis? Findings From a National Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian local governments are facing intensifying pressures to respond to worsening visible homelessness. This paper presents one of the first national studies on how local governments are responding to these pressures, and the first since the onset of the post‐pandemic housing crisis.
Andrew Clarke, Joelle Moore, Fatemeh Aminpour, Katya Eagles   +3 more
wiley   +1 more source

Mechanisms of Mitochondrial Toxicity and Cytotoxicity Caused by Pseudomonas aeruginosa Pyocyanin in Human Nasal Epithelial Cells

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Pseudomonas aeruginosa is an opportunistic pathogen in cystic fibrosis‐related chronic rhinosinusitis (CF‐CRS) that produces phenazine metabolites pyocyanin and 1‐hydroxyphenazine (1‐HP), which may have detrimental effects on mitochondria, reactive oxygen species (ROS), Ca2+ signaling, and apoptosis.
Joel C. Thompson, April Park, Yobouet Ines Kouakou, Zoey A. Miller, Nabil F. Darwich, Nithin D. Adappa, James N. Palmer, Ryan M. Carey, Robert J. Lee   +8 more
wiley   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source

Transcriptomic validation of a 7,12 Dimethylbenz(a)anthracene (DMBA)‐induced leukemia rat model: Parallels with human leukemogenesis

Animal Models and Experimental Medicine, EarlyView.
7,12‐Dimethylbenz[a]anthracene (DMBA) could induce leukemia and other types of cancers in rat models. Transcriptomics revealed gene expression profile that parallels with human leukemia. DMBA‐induced differential gene expression could validate the developed rat model.
Khaldoon Alsamman, Omar S. El‐Masry
wiley   +1 more source

Photocaged Oxytocin and Vasopressin Probes to Decipher Neuropeptide Signalling With High Spatiotemporal Resolution

Angewandte Chemie International Edition, EarlyView.
Novel and biocompatible photoactivatable oxytocin and vasopressin probes, utilising state‐of‐the‐art photocages, remain inactive in the dark. Light exposure facilitates rapid spatiotemporal receptor activation and phospholipase C (PLC)‐mediated downstream signalling. Figure created in https://BioRender.com.
Konstantin Raabe, Predrag Kalaba, Xuan Ling Hilary Yong, Greta Crudeli, Sarah Melzer, Erik Keimpema, Victor Anggono, Markus Muttenthaler   +7 more
wiley   +1 more source

Nano‐Gs Protein Peptidomimetics: Rational Design of Gα C‐Terminus‐Derived Peptides Mimicking Key Components of Gs‐β2AR Interactions

Angewandte Chemie International Edition, EarlyView.
G protein‐coupled receptors (GPCRs) are major therapeutic targets. Modulating GPCR activity through intracellular sites is evolving. A structure‐ and computation‐assisted approach generated small G protein‐derived peptidomimetics targeting the intracellular binding crevice of the β2 adrenergic receptor mimicking features of the full G protein.
Phuong Thu Tran, Mia Danielsen, Johanna K. S. Tiemann, Passainte Ibrahim, Søren G. F. Rasmussen, Xavier Kubiak, Hossein Batebi, Charlène Gadais, Steven Ballet, Peter W. Hildebrand, Daniel Sejer Pedersen, Jesper Mosolff Mathiesen   +11 more
wiley   +1 more source

The Cyclic Adenosine Monophosphate Phosphodiesterase CpdA Modulates cAMP Homeostasis, Stress Adaptability, Biofilm Formation, Motility, Quorum Sensing and Antibiotic Resistance of <i>Aeromonas veronii</i>. [PDF]

J Microbiol Biotechnol
Yang W, Wang X, Zhou S, Yu G, Zhou X, Sui Z.   +5 more
europepmc   +1 more source

Dr. Hans Kohn and the political takeover of the Berlin Medical Society by the National Socialist regime in 1933

The Anatomical Record, EarlyView.
Abstract To solidify their power over society, totalitarian regimes will usually eliminate any dissent, any perceived threats early on. These threats include not only political enemies but also educated and independent segments of society, such as professional associations.
Michael Hortsch
wiley   +1 more source