Results 211 to 220 of about 25,057,876 (282)

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Activation of the Pancreatic "Metabolic Synapse" Aggravates Type 2 Diabetes Mellitus by Inducing PANoptosis in β-Cells. [PDF]

Diabetes
Xiang Z, Zitian L, Guangwei Y, Shuohui D, Kexin W.   +4 more
europepmc   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Context Matters for GluN1 Variants in Epilepsy. [PDF]

Epilepsy Curr
Bedrosian TA.
europepmc   +1 more source

Insights into tandem dioxygenases—copper radical oxidases in fungal Phytopathogens of the Colletotrichum acutatum species complex

The FEBS Journal, EarlyView.
In Colletotrichum acutatum species complex, conserved ring‐cleavage dioxygenases located adjacent to AA5_2 enzymes were investigated as potential redox partners. Biochemical analyses identified the dioxygenases as intradiol‐cleaving enzymes preferentially oxidizing methyl‐substituted catechols, while AA5_2 enzymes displayed weak alcohol oxidase ...
Radka Končitíková, David Ribeaucourt, Mireille Haon, David Navarro, Elodie Drula, Bastien Bissaro, Jean‐Guy Berrin, Mickael Lafond   +7 more
wiley   +1 more source

Low Dose Ketamine Preconditions Astrocyte Mitochondria to Achieve Antidepressant Efficacy via Adenosine, Humanin, and Melatonin Upregulation and Efflux. [PDF]

Alpha Psychiatry
Anderson G.
europepmc   +1 more source

Framework for headache management in pediatric patients with stroke and cerebrovascular lesions: A narrative review

Headache: The Journal of Head and Face Pain, EarlyView.
Abstract Objective To present a practical, evidence‐based framework for the management of headache disorders in pediatric patients with prior stroke or underlying cerebral vascular lesions, with particular attention to safety and efficacy of pharmacologic and non‐pharmacologic therapies.
Allison C. Hyland, Samuel J. Belfer, Christine K. Fox, Samantha L. Irwin, Rachel Vassar, Ann Oh, Sruthi Ilangovan, Amy A. Gelfand   +7 more
wiley   +1 more source

Structural and mechanistic insights into gating and allosteric modulation of GluN1-GluN3A NMDA receptors. [PDF]

Nat Struct Mol Biol
Kim J, Benton AJ, Lotti JS, Rouzbeh N, Hansen KB, Gouaux E.   +5 more
europepmc   +1 more source

Ferroptosis and NMDA Receptor Activity in Alzheimer's Disease: Implications for Amyloid Pathology and P-Glycoprotein Regulation. [PDF]

Drug Dev Res
Salunkhe J, Ugale V.
europepmc   +1 more source

Extending the Farquhar–von Caemmerer–Berry photosynthesis model to account for various photorespiratory bypasses

New Phytologist, EarlyView.
We extend a widely used C3‐photosynthesis model to account for various photorespiratory bypasses, thereby, providing a useful resource and framework that enforces future novel bypass work and scrutinize if the results go counter to theory. Our model analyses show that of the 17 published bypass pathways, full‐decarboxylating bypasses (that have been ...
Xinyou Yin, Kaining Jin, Guoxin Chen, Tiegang Lu   +3 more
wiley   +1 more source