Results 291 to 300 of about 708,932 (401)

A Common Single Nucleotide Polymorphism in Endoplasmic Reticulum Aminopeptidase 2 Induces a Specificity Switch That Leads to Altered Antigen Processing

Journal of Immunology, 2012
Irini Evnouchidou, J. Birtley, S. Seregin, A. Papakyriakou, E. Zervoudi, M. Samiotaki, G. Panayotou, P. Giastas, Olivia Petrakis, D. Georgiadis, A. Amalfitano, E. Saridakis, I. Mavridis, E. Stratikos   +13 more
semanticscholar   +1 more source

NSAIDS AS MODULATORS OF CATION CHANNELS: FENAMATES REPURPOSING IN CHANNELOPATHIES

ChemMedChem, Accepted Article.
Cationic ion channels are transmembrane proteins that regulate the flux of cations (potassium, sodium, and calcium) across cell membrane, playing a pivotal role in many cellular functions. Disruptions of their activity can lead to the so‐called genetic or acquired channelopathies, a heterogeneous group of diseases that affect multiple human systems ...
Paola Laghetti, Concetta Altamura, Simone Dell’Atti, Jean-François Desaphy, Ilaria Saltarella   +4 more
wiley   +1 more source

Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single-nucleotide polymorphism (SNP)-based prenatal cell-free DNA screening. [PDF]

J Genet Couns
Walker J, Lemoine J, Goldring G, Morton E, Repass E, Meltzer J, Ortiz JB, Xu W, Wang Y.   +8 more
europepmc   +1 more source

The Discovery of Single-Nucleotide Polymorphisms—and Inferences about Human Demographic History

, 2001
John Wakeley, Rasmus Nielsen, Shau Neen Liu-Cordero, Kristin Ardlie   +3 more
openalex   +1 more source

Manganese Neurotoxicity and Familial Disorders of Manganese Transport

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Manganese is the 12th most common element in the Earth's crust and is an essential industrial component. Biologically, this metal plays an important role as a constituent of numerous enzymes. While manganese is required for normal biochemical and physiological processes, manganese excess can lead to significant toxicity, particularly to the ...
Sidney M. Gospe Jr.
wiley   +1 more source

Publication-ready single nucleotide polymorphism visualization with snipit. [PDF]

Bioinformatics
O'Toole Á, Aziz A, Maloney D.
europepmc   +1 more source

CYP2C19 Polymorphisms and Clinical Outcomes Following Percutaneous Coronary Intervention in the Million Veteran Program

Clinical Pharmacology &Therapeutics, EarlyView.
CYP2C19 loss‐of‐function (LOF) alleles decrease the antiplatelet effect of clopidogrel following percutaneous coronary intervention (PCI) in patients presenting with acute coronary syndrome (ACS). The impact of genotype in patients undergoing PCI for stable ischemic heart disease (SIHD) in real‐world populations is less clear.
Catherine Chanfreau‐Coffinier, Kevin A. Friede, Mary E. Plomondon, Kyung Min Lee, Zhenyu Lu, Tia Dinatale, Scott L. DuVall, Jason L. Vassy, Stephen W. Waldo, John H. Cleator, Thomas M. Maddox, Daniel J. Rader, Themistocles L. Assimes, Scott M. Damrauer, Philip S. Tsao, Kyong‐Mi Chang, Deepak Voora, Julie A. Lynch, Jay Giri, VA Million Veteran Program, Sony Tuteja   +20 more
wiley   +1 more source

Exploring the Influence of Genetic Single-Nucleotide Polymorphism (SNPs) on Endodontic Pathologies: A Comprehensive Review. [PDF]

Cureus
Falatah AM, Alturki SA, Aldahami AI, Alrashidi NA, Sinnah Y, Aldgeel RM, Alanazi KZ, Alkhaled AS, ALjuaid TS, Alotaibi NH, Altwijri WJ.   +10 more
europepmc   +1 more source

Intestinal Barrier Glycosylation for Gut Physiology and Pathology

Barrier Immunity, EarlyView.
ABSTRACT The intestinal barrier is a selective structure that safeguards the body from external threats while permitting nutrient absorption and immune surveillance. It consists of the outer mucus layer, the intermediate layer of intestinal epithelial cells (IECs), and the inner layer of immune cells. The proteins in the mucus layer and within IECs are
Girak Kim, Deji Ye, Yikun Yao, Chuan Wu
wiley   +1 more source

A Centenarian Single Nucleotide Polymorphism in collagen gene COL25A1 promotes longevity in C. elegans

Goyala A, Statzer C, Park JYC, Neundorf I, MacArthur MR, Gebauer JM, Ewald CY.   +6 more
europepmc   +1 more source