Results 171 to 180 of about 271,223 (294)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Recent Trends in Metabolomics by NMR Spectroscopy

Angewandte Chemie, EarlyView.
AI tools were applied to analyze more than 5 000 publications indexed in Scopus (2018–2025), identifying key trends and research directions in NMR‐based metabolomics. The artificial intelligence‐assisted workflow classified papers into six main fields of application, human health, food and nutrition, veterinary science, plants, environment, and ...
Giorgio Di Paco, Gaia Meoni, Veronica Ghini, Alessia Vignoli, Leonardo Tenori, Paola Turano, Claudio Luchinat   +6 more
wiley   +2 more sources

Role of Adenosine Receptors in Sleep Deprivation-Induced Depression-Like Behaviors. [PDF]

Biomol Ther (Seoul)
Lee NJ, Jung YS.
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Chemical Metabolomics: Chemical Biology Tools for Advanced Metabolism Investigations

Angewandte Chemie, EarlyView.
The human metabolism has been investigated for several millennia. The metabolome is known for a high complexity due to a large number of different metabolites that are present at different concentrations. Metabolomics has been developed as a field to investigate the entire human metabolome and to elucidate disease development mechanisms.
Alejandro Torregrosa‐Chinillach, Ioanna Tsiara, Wawrzyniec Haberek, Weifeng Lin, Daniel Globisch   +4 more
wiley   +2 more sources

Adenosine receptors on the immuno-oncology expressway: TIME, perspectives, and translation. [PDF]

Front Immunol
Majumder B, Datta S.
europepmc   +1 more source

Thebromine Targets Adenosine Receptors to Control Hippocampal Neuronal Function and Damage. [PDF]

Int J Mol Sci, 2022
Valada P, Alçada-Morais S, Cunha RA, Lopes JP.   +3 more
europepmc   +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

Special Issue "Molecular Research on Adenosine Receptors: From Cell Biology to Human Diseases". [PDF]

Int J Mol Sci
Mannino F.
europepmc   +1 more source

A 2A ADENOSINE RECEPTORS REGULATE MULTIPLE ORGAN FAILURE AFTER HEMORRHAGIC SHOCK IN MICE. [PDF]

Shock, 2022
Kelestemur T, Németh ZH, Pacher P, Antonioli L, Haskó G.   +4 more
europepmc   +1 more source