Results 41 to 50 of about 516,925 (316)

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Long‐Term Follow‐Up of Chemotherapy‐Associated Biological Aging in Women With Early Breast Cancer

Aging and Cancer, EarlyView.
Women threated with adjuvant chemotherapy for early breast cancer have sustained long‐term increase in p16INK4a,, a robust marker of cell senescence, suggesting a chemotherapy‐associated age acceleration. p16INK4a as well as other biomarkers may identify patients at greatest risk for senescence‐related diseases of aging.
Hyman B. Muss, Alexis C. Wardell, Allison M. Deal, Kirsten A. Nyrop, Allison Ross, Yara G. Abdou, Jeffrey D. Aldrich, Lisa A. Cary, E. Claire Dees, Katherine E. Reeder‐Hayes, Emily M. Ray, Natalia Mitin, Denis Tsygankov   +12 more
wiley   +1 more source

Trigeminal Nerve Root Demyelination Not Seen in Six Horses Diagnosed with Trigeminal-Mediated Headshaking

Frontiers in Veterinary Science, 2017
Trigeminal-mediated headshaking is an idiopathic neuropathic facial pain syndrome in horses. There are clinical similarities to trigeminal neuralgia, a neuropathic facial pain syndrome in man, which is usually caused by demyelination of trigeminal ...
Veronica L. Roberts, Debra Fews, Jennifer M. McNamara, Seth Love   +3 more
doaj   +1 more source

Spinal Cord Infarction Versus Idiopathic Transverse Myelitis: Clinical, Radiological, and Functional Insights From a Retrospective Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Spinal cord infarction (SCI) is a rare but devastating myelopathy, characterized by a high disability rate and an unfavorable prognosis. It has often been underdiagnosed and misdiagnosed as idiopathic transverse myelitis (ITM). This study aimed to describe the clinical features, radiological biomarkers, treatments, and functional ...
Zeqiang Ji, Jianlong Zhang, Yiming Shi, Shiyu Shan, Yang Du, Guangshuo Li, Ying Jin, Yani Zhang, Chuanying Wang, Yijun Lin, Yuhao Guo, Decai Tian, Xingquan Zhao, Tian Song   +13 more
wiley   +1 more source

Risk Factors for Refractory Epilepsy

Pediatric Neurology Briefs, 2000
The factors associated with a poor seizure response to therapy were evaluated in 525 patients, children and adults, followed at The Epilepsy Unit, Western Infirmary, Glasgow, Scotland.
J Gordon Millichap
doaj   +1 more source

Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito, Chiara Meneghini, Alice Galli, Luca Gallo, Pierfrancesco Mitrotti, Paola Dimartino, Marianna Inglese, Cinzia Zatti, Alessandro Lupini, Andrea Pilotto, Alessandro Padovani, Micol Avenali, Enza Maria Valente, Cristina Tassorelli, Silvia P. Caminiti   +14 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Unveiling the Enigma: Idiopathic Digital Infarction—A Case Report and Literature Review

Clinical Case Reports
Idiopathic digital infarction (IDI), a rare subset of digital infarction, is characterized by ischemic changes in the absence of identifiable underlying etiology.
Jaber H. Jaradat, Wadi Walid I, Aram F. Obeidat, Raghad Amro, Abdulqadir J. Nashwan   +4 more
doaj   +1 more source

Does laterality of deformity influence the severity of the idiopathic clubfoot?

Nigerian Journal of Medicine, 2019
BACKGROUND: The idiopathic clubfoot has been widely reported as the commonest congenital deformity of the lower limbs with incidence of approximately 1-2 in 1000 live births. Its exact aetiology is not known.
C O Anisi, I E Abang, J E Asuquo, P U Agweye, O G Osakwe   +4 more
doaj   +1 more source