Results 181 to 190 of about 229,589 (299)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Angewandte Chemie, EarlyView.Rationally designed DNA multivalent aptamers direct specific protein binding to drive self‐assembly into protein‐DNA frameworks (PDFs). Structurally defined protein‐aptamer interfaces organize proteins into triangles, linear and ladderlike chains, and periodic two‐dimensional arrays, enabling precise control over orientation, connectivity, and overall ...
Zhe Zhang +11 more
wiley +2 more sources
l-Lactate Transport and Metabolism in Mitochondria of Hep G2 Cells—The Cori Cycle Revisited
Frontiers in Oncology, 2018 Salvatore Passarella, Avital Schurr
doaj +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 +9 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Introduction Chronic rhinosinusitis (CRS) is an inflammatory disease with many different contributing factors, including bacterial infection. CRS patients are typically managed with medical therapies; however, these treatments frequently fail, leaving surgery as the only viable option.
Sintayehu Ambachew +8 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Introduction Staphylococcus species are frequently isolated from the sinonasal niche of chronic rhinosinusitis (CRS) patients. While Staphylococcus aureus is often associated with recalcitrant CRS, Staphylococcus epidermidis and Staphylococcus lugdunensis are largely deemed commensal.
Sintayehu Ambachew +8 more
wiley +1 more source
Safety and Feasibility of Magnetic Separation‐Based Blood Purification
Advanced NanoBiomed Research, EarlyView.We present the preclinical biological safety and translational feasibility of a magnetic nanoparticle‐based extracorporeal blood purification platform for removal of disease‐causing blood factors. ISO 10993‐compliant studies and exaggerated worst‐case exposure models demonstrate efficient nanoparticle extraction (≥99.9%), favorable biocompatibility ...
Carlos A. Mora +11 more
wiley +1 more source
Angewandte Chemie International Edition, EarlyView.Rapid parahydrogen hyperpolarization combined with simple dilution enables biocompatible delivery of hyperpolarized pyruvate to immobilized living cells within ≈1 min. Repeated substrate injections reveal frequency‐dependent metabolic dynamics, introducing a new temporal dimension for hyperpolarized NMR studies of cellular metabolism and enabling rapid
Philipp R. Groß +17 more
wiley +1 more source