Results 91 to 100 of about 557,393 (318)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

DNA methylation potential: dietary intake and blood concentrations of one-carbon metabolites and cofactors in rural African women. [PDF]

, 2013
BACKGROUND: Animal models show that periconceptional supplementation with folic acid, vitamin B-12, choline, and betaine can induce differences in offspring phenotype mediated by epigenetic changes in DNA. In humans, altered DNA methylation patterns have
Dominguez Salas, Paula, Dyer, Roger A, Andrew M Prentice, Waterland, Robert A., Kerry-Ann da Costa, Cole, Darren, Zeisel, Steven H., Prentice, Andrew M, Hennig, Branwen J, Paula Dominguez-Salas, Sophie E Moore, Moore, Sophie E, Zeisel, Steven H, Anthony JC Fulford, Moore, Sophie E., Robert A Waterland, Darren Cole, Fulford, Anthony JC, Branwen J Hennig, Dyer, Roger A., Fulford, Anthony J.C., Sharon E Cox, Sheila M Innis, Steven H Zeisel, Dominguez-Salas, Paula, Innis, Sheila M, da Costa, Kerry-Ann, Roger A Dyer, Waterland, Robert A, Innis, Sheila M., Cox, Sharon E, Prentice, Andrew M., Da Costa, Kerry Ann, Hennig, Branwen J., Cox, Sharon E.   +34 more
core   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Extensive lysine methylation in hyperthermophilic crenarchaea : potential implications for protein stability and recombinant enzymes [PDF]

, 2010
In eukarya and bacteria, lysine methylation is relatively rare and is catalysed by sequence-specific lysine methyltransferases that typically have only a single-protein target.
Botting, Catherine H., White, Malcolm F., Talbot, Paul, Malcolm F. White, Paytubi, Sonia, Paul Talbot, Catherine H. Botting, Sonia Paytubi   +7 more
core   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

The Methylation of Nicotine with Methyl-lithium. [PDF]

Acta Chemica Scandinavica, 1967
F. Haglid, David R. Williams, Åke Nilsson, Jan Sandström, H. Theorell, R. Blinc, S. Paušak, L. Ehrenberg, J. Dumanović   +8 more
openaire   +2 more sources

A comprehensive microarray-based DNA methylation study of 367 hematological neoplasms

, 2011
Background: Alterations in the DNA methylation pattern are a hallmark of leukemias and lymphomas. However, most epigenetic studies in hematologic neoplasms (HNs) have focused either on the analysis of few candidate genes or many genes and few HN entities,
Dreyling, Martin, Stein, Harald, Agirre, Xabier, Vater, Inga, Hartmann, Sylvia, Martin-Subero, Jose Ignacio, Deckert, Martina, Román-Gómez, José, Haferlach, Claudia, Küppers, Ralf, Bug, Stefanie, Bibikova, Marina, Harder, Lana, Nagel, Inga, Montesinos-Rongen, Manuel, Trümper, Lorenz, Hansmann, Martin-Leo, Suela, Javier, Calasanz, Maria J., Gesk, Stefan, Cruz Cigudosa, Juan, Wickham-Garcia, Eliza, Du, Ming Q., Siebert, Reiner, Seifert, Marc, Richter, Julia, Klapper, Wolfram, Brüggemann, Monika, Dyer, Martin J. S., Ammerpohl, Ole, Fan, Jian-Bing, Dürig, Jan, Alvarez, Sara, Pott, Christiane, Prosper, Felipe   +34 more
core   +1 more source

Novel DNA methylation profiles associated with key gene regulation and transcription pathways in blood and placenta of growth-restricted neonates [PDF]

, 2015
Fetal growth is determined by the feto-placental genome interacting with the maternal in utero environment. Failure of this interplay leads to poor placental development and fetal growth restriction (FGR), which is associated with future metabolic ...
Lowe, R, Williams, DJ, Rakyan, V, Hitman, GA, Mathews, C, Hillman, SL, Finer, S, Smart, MC, Rakyan, VK   +8 more
core   +1 more source

Race and Household Income Are Associated With Disease Outcomes in Pediatric Patients With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis Hospitalized in the United States

Arthritis Care &Research, EarlyView.
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos, William Daniel Soulsby III, Emily von Scheven   +2 more
wiley   +1 more source

Immortality, but not oncogenic transformation, of primary human cells leads to epigenetic reprogramming of DNA methylation and gene expression

, 2014
Tumourigenic transformation of normal cells into cancer typically involves several steps resulting in acquisition of unlimited growth potential, evasion of apoptosis and non-responsiveness to growth inhibitory signals. Both genetic and epigenetic changes
de Las Heras, Jose Ignacio, Xenophontos, Maria, Stancheva, Irina, Bao, Xun X., Clouaire, Thomas, Kemp, Sadie E., Gordon, Katrina   +6 more
core   +1 more source