Results 201 to 210 of about 4,374,159 (298)

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Functional analysis from ex-vivo characterization of LDLR exon 13-15 duplication associated to familial hypercholesterolemia. [PDF]

Front Endocrinol (Lausanne)
Martínez C, Alarcón C, Radojkovic C, Cid A, Vilches N, Guzman-Gutiérrez E, Saez K, Alonso R, Sánchez A.   +8 more
europepmc   +1 more source

Validation of a Genetic Risk Score Combined With Clinical Variables for Predicting Pulmonary Fibrosis in Early Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). This study aimed to externally validate a genetic risk score (GRS) and a combined risk score (CRS) for predicting the risk of RA‐associated PF in an independent cohort of patients with early RA.
Mikael Brink, Austin Wheeler, Bryant R. England, Solbritt Rantapää‐Dahlqvist   +3 more
wiley   +1 more source

Illegal urban wild meat supply chain characterization: A case study on zoonosis in Lusaka, Zambia. [PDF]

PLoS One
Mukanganwa BA, Mukuma M, Shindano J, Moonga HB.   +3 more
europepmc   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

Hepatitis E in Wildlife: Emerging Threats to Human Health. [PDF]

Vet Sci
Vesković Moračanin SM, Kureljušić BI, Maletić J, Kureljušić JM, Jezdimirović NV, Vasić AM, Milovanović BZ, Savić BM.   +7 more
europepmc   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Effect of Cytochrome P450 2C9 genetic polymorphism on agomelatine metabolism <i>in vitro</i>. [PDF]

PeerJ
Fang P, Ni J, Shen T, Chen Q, Ye X, Jin J, Dai D, Hu G, Qian J, Cai J, Chen L.   +10 more
europepmc   +1 more source

Combinatorial Synthesis of Next Generation Water‐Soluble Quaternized N‐Halamine Oligomers with Long‐Lasting Antiviral Properties

Advanced Functional Materials, EarlyView.
A combinatorial library of dual‐functional antiviral oligomers incorporating N‐halamine and quaternary ammonium functionalities is developed for long‐lasting antiviral activity. The lead materials exhibit rapid and durable antiviral activity against SARS‐CoV‐2 variants and influenza H1N1, with 4 to 5 log reduction in viral copies at 5 mg mL−1 ...
Eid Nassar‐Marjiya, Konda Reddy Kunduru, Krishanu Ghosal, Luna Rizik, Nofar Atari, Mahran Daifa, Neta Kutner, Bassma Khamaisi, Qi Wu, Simran Jindal, Merna Shaheen‐Mualim, Ranabir Majumder, Mahitosh Mandal, Michal Mandelboim, Shady Farah   +14 more
wiley   +1 more source