Results 111 to 120 of about 177,004 (319)

Red Blood Cell Adenylate Energetics Is Related to Endothelial and Microvascular Function in Long COVID

Biomedicines
Adenine nucleotides play a critical role in maintaining essential functions of red blood cells (RBCs), including energy metabolism, redox status, shape fluctuations and RBC-dependent endothelial and microvascular functions.
Marzena Romanowska-Kocejko, Agata Jędrzejewska, Alicja Braczko, Klaudia Stawarska, Oliwia Król, Marika Frańczak, Gabriela Harasim, Ryszard T. Smoleński, Marcin Hellmann, Barbara Kutryb-Zając   +9 more
doaj   +1 more source

p-Adic Modelling of the Genome and the Genetic Code

, 2007
The present paper is devoted to foundations of p-adic modelling in genomics. Considering nucleotides, codons, DNA and RNA sequences, amino acids, and proteins as information systems, we have formulated the corresponding p-adic formalisms for their ...
Dragovich, Alexandra, Dragovich, Branko
core   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

The tumour metabolism inhibitors GSAO and PENAO react with cysteines 57 and 257 of mitochondrial adenine nucleotide translocase

Cancer Cell International, 2012
Background GSAO (4-(N-(S-glutathionylacetyl)amino) phenylarsonous acid) and PENAO (4-(N-(S-penicillaminylacetyl)amino) phenylarsonous acid) are tumour metabolism inhibitors that target adenine nucleotide translocase (ANT) of the inner-mitochondrial ...
Park Danielle, Chiu Joyce, Perrone Gabriel G, Dilda Pierre J, Hogg Philip J   +4 more
doaj   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Adenine nucleotide carrier protein dysfunction in human disease. [PDF]

IUBMB Life, 2023
Mishra G, Coyne LP, Chen XJ.
europepmc   +1 more source

Identification of ferroptosis‐related genes involved in chronic obstructive pulmonary disease based on bioinformatics analysis

Animal Models and Experimental Medicine, EarlyView.
The design of the entire paper. Green part represents the bioinformatics analysis approach. Yellow part represents the ideas of animal experiment. Abstract Background Chronic obstructive pulmonary disease (COPD) is a type of chronic respiratory disease.
Xuejing Luan, Jinghui Xie, Lu Zhang, Xiao Ma, Lichangtian Jiao, Jie Zhu   +5 more
wiley   +1 more source

A single nucleotide polymorphism produces different transcription profiles in Campylobacter jejuni’s cysM

Frontiers in Microbiology
A single nucleotide polymorphism (SNP) in the 126 bp untranslated region (UTR) directly upstream of Campylobacter jejuni’s cysM (cysteine synthase) results in significant effects on gene transcription.
Nereus W. Gunther IV, Siddhartha Kanrar, Aisha Abdul-Wakeel, Michael J. McAnulty, John Renye, Joseph Uknalis, Gaylen A. Uhlich   +6 more
doaj   +1 more source

Control of ATP homeostasis during the respiro‐fermentative transition in yeast

Molecular Systems Biology, 2010
Respiring Saccharomyces cerevisiae cells respond to a sudden increase in glucose concentration by a pronounced drop of their adenine nucleotide content ([ATP]+[ADP]+[AMP]=[AXP]).
Thomas Walther, Maite Novo, Katrin Rössger, Fabien Létisse, Marie‐Odile Loret, Jean‐Charles Portais, Jean‐Marie François   +6 more
doaj   +1 more source

Association of Calpastatin (CAST) Gene with Growth Traits and Carcass Characteristics in Bali Cattle [PDF]

, 2015
Calpastatin (CAST) gene is well known as an inhibitor of muscle protein degradation and relates to muscle growth and meat tenderness. The objective of this study was to determine the association of CAST gene with growth traits and carcass characteristics
Gunawan, A. (A), Jakaria, J. (Jakaria), Priyanto, R. (R), Putri, R. (R)   +3 more
core