Results 211 to 220 of about 16,445 (315)

Alpha‐Ketoglutarate Regulates Intestinal Motility and Health by OXGR1 in Nitrergic Neuron of Enteric Nervous System

Food Frontiers, Volume 7, Issue 1, January 2026.
ABSTRACT Intestinal health could be affected by intestinal motility, which is controlled by the enteric nervous system. In this study, we found that α‐ketoglutarate (AKG) inhibits intestinal motility and improves intestinal permeability, accompanied by an increased count of intestinal flora.
Guli Xu, Jingjing Zhou, Pingwen Xu, Ishwari Gyawali, Chang Xu, Jinping Yang, Zewei Ma, Dan Du, Qingyan Jiang, Gang Shu   +9 more
wiley   +1 more source

Toll-like Receptors in Inborn Errors of Immunity in Children: Diagnostic Potential and Therapeutic Frontiers-A Review of the Latest Data. [PDF]

Cells
Jurczuk A, Bałdyga P, Płoński A, Jurczuk M, Garley M.   +4 more
europepmc   +1 more source

Rebalancing Hemostasis: Fitusiran as a First‐in‐Class RNAi Therapy in Hemophilia A and B

Health Science Reports, Volume 9, Issue 1, January 2026.
ABSTRACT Background and Aims Fitusiran is a first‐in‐class RNA interference (RNAi) therapy that lowers antithrombin (AT) to rebalance hemostasis in people with Hemophilia A or B, with or without inhibitors. Its recent FDA approval marks a major shift toward factor‐independent prophylaxis.
Raza Ur Rehman, Rida Fatima, Aymar Akilimali   +2 more
wiley   +1 more source

Sociodemographic drivers of care disparity among patients with inborn errors of immunity. [PDF]

Curr Opin Pediatr
Neary CM, Ong MS, Farmer JR.
europepmc   +1 more source

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine‐glyoxylate aminotransferase mislocalization.
Timo Keskinen, Sami Jalil, Irem Gümüşoğlu, Juhana Juutila, Nadim Kestilä, Emilia Kuuluvainen, Ville Hietakangas, Diego Balboa, Kirmo Wartiovaara, Mervi E. Hyvönen   +9 more
wiley   +1 more source

Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort. [PDF]

Front Immunol
Godinez-Zamora GF, Baeza-Capetillo P, Saucedo-Ramírez OJ, Del-Río-Navarro BE, Espinosa-Padilla SE, Morán-Barroso VF, Aguirre-Hernandez J.   +6 more
europepmc   +1 more source

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center Study. [PDF]

J Clin Immunol
Gumusburun R, Yıldırım O, Karakoc M, Okan K, Inan S, Dalgıc CT, Akten HS, Bogatekin G, Bulut G, Demir M, Aytac H, Camyar A, Ozısık M, Demir D, Soyer N, Soylu M, Uysal FE, Aykut A, Durmaz A, Ozgul S, Sin AZ, Ardeniz O.   +21 more
europepmc   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Betaherpesvirus Incidence in Saliva Samples From Patients With Hematological Neoplasms: Frequency, Clinic and Diagnostic Insights

Journal of Medical Virology, Volume 98, Issue 1, January 2026.
ABSTRACT Hematological neoplasms (HN) are disorders originating in blood cells that hold significant epidemiological importance. Treatments available for these conditions can induce immunosuppression, and it increases the risk of viral infections and reactivations, mainly by Human betaherpesviruses (HCMV, HHV‐6, and HHV‐7).
Ana Carolina Silva Guimarães, Jéssica Pereira Gonçalves, Nathália de Sousa Pereira, Flávia Freitas de Oliveira Bonfim, Katrini Guidolini Martinelli, Marla Karine Amarante, Sueli Fumie Yamada‐Ogatta, Laura Cinquini Franco, Ligia Carla Faccin Galhardi, Vanessa Salete de Paula   +9 more
wiley   +1 more source