Results 241 to 250 of about 546,866 (330)

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

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

Many faces of mammalian NSD methyltransferases. [PDF]

Cell Mol Biol Lett
Tiukacheva EA, Vassetzky Y, Razin SV, Fang D, Ulianov SV.   +4 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

Cellular and Molecular Mechanisms of Neuroprotection in Deep Brain Stimulation for Parkinson's Disease. [PDF]

Biomedicines
Nag A, Shah S, Lucke-Wold B.
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

Toward Disease-Modifying Therapies in Type 1 Diabetes: Focus on Teplizumab. [PDF]

Diabetes Care
Mathieu C, Mathieu C, Sims EK, Chatenoud L, James EA, Atkinson MA, Herold KC.   +6 more
europepmc   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu, Yinjiao Fei, Jiaxuan Ding, Kexin Shi, Jinyan Luo, Yuchen Zhu, Xingjian Sun, Gefei Jiang, Yuandong Cao, Weilin Xu, Shu Zhou   +10 more
wiley   +1 more source

Exosomes as Cellular Communicators and Therapeutic Agents in Orthopedic Diseases: From Mechanisms to Intervention. [PDF]

Int J Nanomedicine
Zhang J, Zhang M, Ren X, Li M, Zhu Y, Shou D, Zhang Y.   +6 more
europepmc   +1 more source

Functional interaction of receptor-activity-modifying proteins (RAMP) with G protein-coupled receptors

, 2003
openaire   +2 more sources