Results 31 to 40 of about 467 (113)

Two‐Dimensional Transition Metal Dichalcogenides Trigger Trained Immunity in Human Macrophages through Epigenetic and Metabolic Pathways

Small, Volume 18, Issue 20, May 19, 2022., 2022
The present study demonstrates that 2D transition metal dichalcogenides (TMDs) elicit trained immunity in primary human macrophages. Evidence is provided for a role of epigenetic and metabolic rewiring in macrophages exposed to TMDs, and MoS2 is also shown to act directly on the cAMP signaling pathway. Thus, biocompatible 2D TMDs are capable of evoking
Guotao Peng, Sandeep Keshavan, Lucia Delogu, Yuyoung Shin, Cinzia Casiraghi, Bengt Fadeel   +5 more
wiley   +1 more source

Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism

Journal of Inherited Metabolic Disease, Volume 44, Issue 5, Page 1113-1123, September 2021., 2021
Abstract The current diagnostic work‐up of inborn errors of metabolism (IEM) is rapidly moving toward integrative analytical approaches. We aimed to develop an innovative, targeted urine metabolomics (TUM) screening procedure to accelerate the diagnosis of patients with IEM.
Laura K.M. Steinbusch, Ping Wang, Huub W.A.H. Waterval, Fons A.P.M. Stassen, Karlien L.M. Coene, Udo F.H. Engelke, Daphna D.J. Habets, Jörgen Bierau, Irene M.L.W. Körver‐Keularts   +8 more
wiley   +1 more source

Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree

Molecular Genetics &Genomic Medicine, Volume 9, Issue 2, February 2021., 2021
Isolated sulfite oxidase deficiency (ISOD) is a life‐threatening rare autosomal recessive disorder caused by pathogenic variants in SUOX gene. The nonsense pathogenic variants (c.1200C > G (p.Y400*)) and a duplication (c.1549_1574dup (p.525 Mfs*102)) were found in the SUOX gene in the proband.
Peng Du, Reem N. Hassan, Hualei Luo, Jie Xie, Yue Zhu, Qiuyue Hu, Jin Yan, Weiying Jiang   +7 more
wiley   +1 more source

Image_4_Identification and verification of prognostic cancer subtype based on multi-omics analysis for kidney renal papillary cell carcinoma.pdf

, 2023
BackgroundIdentifying Kidney Renal Papillary Cell Carcinoma (KIRP) patients with high-risk, guiding individualized diagnosis and treatment of patients, and identifying effective prognostic targets are urgent problems to be solved in current research on ...
Mei Li (217363), Rongshan Li (7542629), Baodong Wang (3359171)   +2 more
core   +1 more source

Image_2_Identification and verification of prognostic cancer subtype based on multi-omics analysis for kidney renal papillary cell carcinoma.pdf

, 2023
BackgroundIdentifying Kidney Renal Papillary Cell Carcinoma (KIRP) patients with high-risk, guiding individualized diagnosis and treatment of patients, and identifying effective prognostic targets are urgent problems to be solved in current research on ...
Mei Li (217363), Rongshan Li (7542629), Baodong Wang (3359171)   +2 more
core   +1 more source

DataSheet_1_Identification and verification of prognostic cancer subtype based on multi-omics analysis for kidney renal papillary cell carcinoma.docx

, 2023
BackgroundIdentifying Kidney Renal Papillary Cell Carcinoma (KIRP) patients with high-risk, guiding individualized diagnosis and treatment of patients, and identifying effective prognostic targets are urgent problems to be solved in current research on ...
Mei Li (217363), Rongshan Li (7542629), Baodong Wang (3359171)   +2 more
core   +1 more source

Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I

Epilepsia Open, Volume 5, Issue 4, Page 562-573, December 2020., 2020
Abstract Objective A spectrum of seizure disorders is linked to mutations in Kv7.2 and Kv7.3 channels. Linking functional effects of identified mutations to their clinical presentation requires ongoing characterization of newly identified variants.
Jasmine Maghera, Jingru Li, Shawn M. Lamothe, Marvin Braun, Juan P. Appendino, P. Y. Billie Au, Harley T. Kurata   +6 more
wiley   +1 more source

Image_3_Identification and verification of prognostic cancer subtype based on multi-omics analysis for kidney renal papillary cell carcinoma.pdf

, 2023
BackgroundIdentifying Kidney Renal Papillary Cell Carcinoma (KIRP) patients with high-risk, guiding individualized diagnosis and treatment of patients, and identifying effective prognostic targets are urgent problems to be solved in current research on ...
Mei Li (217363), Rongshan Li (7542629), Baodong Wang (3359171)   +2 more
core   +1 more source

Molybdenum Cofactor Deficiency Type B Mimicking Hypoxic-Ischemic Encephalopathy in a Neonate: The First Genetically Confirmed Case in Korea [PDF]

Neonatal Medicine
Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive neurodegenerative disorder that often mimics hypoxic-ischemic encephalopathy (HIE) in neonates, leading to delayed diagnosis. Here, a term female neonate developed refractory seizures on
Soowan Shin, Baek Sup Shin, Seung Han Shin, Ee-Kyung Kim, Han-Suk Kim, Jung Min Ko, Jong-Hee Chae, Soo Yeon Kim, Seung Bok Lee   +8 more
doaj   +1 more source

Modifier genes in SCN1A‐related epilepsy syndromes

Molecular Genetics &Genomic Medicine, Volume 8, Issue 4, April 2020., 2020
Relatively common variants in epilepsy genes may play a large role in modulating SCN1A‐related phenotypes. They may modify the phenotypes of both severely and mildly affected patients. Abstract Background SCN1A is one of the most important epilepsy‐related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity ...
Iris M. de Lange, Flip Mulder, Ruben van 't Slot, Anja C. M. Sonsma, Marjan J. A. van Kempen, Isaac J. Nijman, Robert F. Ernst, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman   +9 more
wiley   +1 more source