Results 231 to 240 of about 266,503 (301)

Metabo-epigenetic circuits of heart failure: chromatin-modifying enzymes as determinants of metabolic plasticity. [PDF]

EMBO Mol Med
Pepin ME, Gong X, Schulze A, Backs J.
europepmc   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Targeting molecular pathways in neuropathic cancer pain: from mechanisms to novel therapeutics. [PDF]

iScience
Xu X, Lei Y, Lu C, Liu M, Meng Y, Zeng C, Gao Y, Zhou H, Xi Y.   +8 more
europepmc   +1 more source

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

GLP-1 Signalling as a Therapeutic Avenue in Parkinson's Disease: A Comprehensive Review. [PDF]

Int J Mol Sci
Orozco MP, Vintimilla Rivadeneira V, Leon-Rojas JE.   +2 more
europepmc   +1 more source

Neuropsychiatric Symptoms Mimicking Dementia in a Patient Treated With Imatinib

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Tyrosine kinase inhibitors are the cornerstone of chronic myeloid leukemia treatment. Newer agents have more potency and a broader spectrum of action, but also a higher potential for neuropsychiatric side effects. We present a case of a patient on imatinib who developed progressive cognitive, mood, and behavioral alterations.
Ashley Jones, Samuele Bonomi, Keith E. Stockerl‐Goldstein, Randall J. Bateman   +3 more
wiley   +1 more source

Decoding pulmonary risk in childhood-onset still's disease: immunogenetic determinants and implications for risk stratification. [PDF]

Respir Res
Margoni A, Fotis L, Papavassiliou KA, Papavassiliou AG.   +3 more
europepmc   +1 more source

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa, Iago Pinal‐Fernandez, Pritikanta Paul, Michael P. Skolka, Margherita Milone, Min Shi, Mithun V. Shah, Maria Casal‐Dominguez, Katherine Pak, Andrew L. Mammen, Teerin Liewluck   +10 more
wiley   +1 more source

The calcitonin receptor controls osteophyte formation, but not cartilage degeneration and subchondral bone loss in experimental osteoarthritis. [PDF]

Bone Joint Res
Jiang S, Xie W, Ballhause TM, Sevecke J, Augustin R, Rolvien T, Maleitzke T, Baranowsky A, Keller J.   +8 more
europepmc   +1 more source