Results 151 to 160 of about 616,358 (307)

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Toward Multi(radio)metalated DNA: Enzymatic Polymerization of Metal‐Chelate‐Modified Deoxyribonucleoside Triphosphates

Angewandte Chemie, EarlyView.
This work presents the first enzymatic polymerization of defined metal‐chelator‐modified nucleotides that leverage polymerase fidelity for uniform (radio)metal loading with successful incorporation of five different metals: Ga, In, Tb, Lu, and Y.
Antonio A. W. L. Wong, François Bénard, David M. Perrin   +2 more
wiley   +2 more sources

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Discovery and Biosynthesis of the Novel Glycotetrapeptide Antibiotic Biffamycin A

Angewandte Chemie, EarlyView.
Genetic de‐regulation of a silent biosynthetic pathway allowed isolation and characterisation of a novel glycopeptide antibiotic named biffamycin A, which harbours unprecedented 5‐chloro‐4‐methoxy tryptophan and 3R‐hydroxy(α‐D‐mannoysl)‐D‐lysine moieties and is bioactive against MRSA and VRSA.
Michael W. Brigham, Edward S. Hems, Daniel C. L. Van, Justin E. Clarke, Sergey Nepogodiev, Julius S. P. Adamson, Christian Bassi, Michael E. Webb, Glyn R. Hemsworth, Orde Q. Munro, Barrie Wilkinson, Ryan F. Seipke   +11 more
wiley   +2 more sources

Noncanonical amino acids enable plug and play vaccine platform in the ALiCE cell free system. [PDF]

NPJ Vaccines
Armero-Gimenez J, Schleusner J, Wilbers RHP, Schots A, Spiga L, Tregoning JS, Brown JC, Zhou J, Juergens H, Finnern R, Williams C.   +10 more
europepmc   +1 more source

Mapping quantitative trait loci underlying body weight changes that act at different times during high‐fat diet challenge in collaborative cross mice

Animal Models and Experimental Medicine, EarlyView.
Over one billion people worldwide suffer from obesity, and the number is continually rising. Animal models, especially mouse models, are crucial to identifying the genetic components of complex disorders and exploring the potential applications of these genetic findings.
Hanifa J. Abu‐Toamih Atamni, Iqbal M. Lone, Ilona Binenbaum, Kareem Midlej, Eleftherios Pilalis, Richard Mott, Aristotelis Chatziioannou, Fuad A. Iraqi   +7 more
wiley   +1 more source

Merging Biocatalysis and Chemocatalysis in Flow: State‐of‐the‐Art and Future Directions for Sustainable Synthesis

Angewandte Chemie, EarlyView.
This review highlights recent advances in integrating biocatalysis and chemocatalysis in continuous flow to create streamlined, sustainable processes. It examines chemo‐enzymatic cascades combining at least one enzymatic and one chemical step, discusses challenges such as enzyme immobilization, leaching, and reactor clogging, and presents solutions ...
Petros Siasiaridis, Matteo Damian, Francesco G. Mutti   +2 more
wiley   +2 more sources

Correction: Disruption of sulfur transferase complex increases bacterial intramacrophage persistence. [PDF]

PLoS Pathog
Tang H, Wang Z, Li C, Yu J, Huang W, Zhou T, Zhang C, Wen B, Wang C, Zhu X, Wang D, Tao J, Lu J, Ni J, Yao YF.   +14 more
europepmc   +1 more source

Metabolic and biochemical profiling reveals phenotypic heterogeneity in Zucker diabetic fatty rats

Animal Models and Experimental Medicine, EarlyView.
Genetically uniform Zucker Diabetic Fatty (ZDF) rats spontaneously develop four distinct metabolic phenotypes despite identical housing and diet conditions. Each phenotype exhibits unique biomarker signatures encompassing glucose homeostasis, insulin secretion, polyol pathway activation, oxidative stress, inflammatory cytokines, and neurotrophic ...
Marek Lepáček, Pavol Boďo, Barbora Kaločayová, Marta Šoltésová Prnová   +3 more
wiley   +1 more source

Systemic hematologic, metabolic, and inflammatory dysregulation in liver cirrhosis and hepatocellular carcinoma: diagnostic utility of novel indices in an Egyptian cohort. [PDF]

BMC Gastroenterol
Sherief DE, Shehata HH, Nosair N, Othman AAA, Saleh MW, Sadaka E, Elgamal R.   +6 more
europepmc   +1 more source