Results 81 to 90 of about 648,128 (302)

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis [PDF]

, 2010
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43.
A Yokoseki, BA Hosler, C Lomen-Hoerth, C Vance, Christopher J. McDermott, D Neary, DR Rosen, E Buratti, E Buratti, E Kabashi, Emily F. Goodall, F Gros-Louis, GM Ringholz, H Daoud, Hannah C. Hollinger, I Gijselinck, IF Wang, IR Mackenzie, J Kirby, J Sreedharan, J. Robin Highley, Janine Kirby, JJ Kew, Judith A. Hartley, Karen E. Morrison, L Benajiba, L Corrado, M Morita, M Neumann, MJ Strong, MJ Winton, NJ Rutherford, P Kuhnlein, PA Mercado, Pamela J. Shaw, Paul G. Ince, PM Andersen, R Bo Del, R Lemmens, Rachel Hibberd, RJ Guerreiro, Rudo Masanzu, SH Ou, Stephen B. Wharton, VM Deerlin Van, William Smith, YM Ayala   +46 more
core   +1 more source

Mechanisms of IgE‐mediated food allergy and the role of allergen‐specific B cells

FEBS Letters, EarlyView.
Food allergy arises when allergen‐specific B cells preferentially produce immunoglobulin E (IgE) antibodies against harmless foods. This article explains the mechanisms driving IgE‐mediated reactions, highlights the central role of these B cells, and discusses how natural tolerance (NT) and oral immunotherapy (OIT) can reshape allergic immune responses.
Juan‐Felipe López, Özge Yilmaz Ardicli, Mübeccel Akdis   +2 more
wiley   +1 more source

Parkinsoǹs disease and emerging of imaging tools for prognosis and diagnosis applications [PDF]

, 2016
Parkinson's disease (PD) is a chronicdegenerative neurological disease, characterized by a range of motor (bradykinesia, rigidity, and tremor) and non-motor (fatigue and depression) symptoms in PD, each of which will affect a particular patient to ...
Fatehi, Daryoush., Rostamzadeh, Ayoob., Taheri, Abdolmajid.   +2 more
core  

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome

Pediatric Blood &Cancer, EarlyView.
Nicholas A. Borja, Anuja Sule, Katie Ann McMullen, Aditi Dhir, Matthew D. Hall, Heather J. McCrea, Sakir Humayun Gultekin, Mustafa Tekin, Bradley Gampel   +8 more
wiley   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

Myoclonus-dystonia : distinctive motor and non-motor phenotype from other dystonia syndromes [PDF]

, 2019
Background: myoclonus-dystonia (M-D) due to a pathogenic variant of SGCE is an autosomal dominant inherited movement disorder. Apart from motor symptoms, psychiatric disorders are highly prevalent in patients with MD.
Bartels, Anna L., Bergmans, Bruno, Kuiper, Anouk, Santens, Patrick, Smit, Marenka, Tijssen, Marina A. J., Timmers, Elze R., van der Stouwe, A. M. Madelein, van der Veen, Sterre   +8 more
core   +2 more sources

Effective therapeutic targeting of CTNNB1‐mutant hepatoblastoma with WNTinib

Molecular Oncology, EarlyView.
WNTinib, a Wnt/CTNNB1 inhibitor, was tested in hepatoblastoma (HB) experimental models. It delayed tumor growth and improved survival in CTNNB1‐mutant in vivo models. In organoids, WNTinib outperformed cisplatin and showed enhanced efficacy in combination therapy, supporting its potential as a targeted treatment for CTNNB1‐mutated HB.
Ugne Balaseviciute, Júlia Huguet‐Pradell, Jordi Abril‐Fornaguera, Albert Gris‐Oliver, Alex Rialdi, Elisa Fernández‐Martínez, Carla Montironi, Vanessa Del Pozo, Peter Houghton, Laura Zanatto, Agavni Mesropian, Ieva Keraite, Swan Thung, Carolina Armengol, Pau Sancho‐Bru, Ernesto Guccione, Roser Pinyol, Josep M. Llovet   +17 more
wiley   +1 more source

Non Motor Symptoms In Patients With parkinson's Disease In Baghdad Hospitals

مجله كليه طب الكندي, 2017
Background:Parkinson’disease(PD) is a neurodegenerative disorder of the central nervous system characterized by resting tremor, bradykinesia, cogwheel rigidity, and impairment of postural reflexes; the frequency of PD increases with aging.Clinically ...
Ahmed Tahseen Muslim
doaj   +1 more source

An athletic approach to studying perception-action integration: Does sport-specific training, and the impact of injury, influence how individuals visually guide navigation? [PDF]

, 2015
The objective of this thesis was to investigate perception-action integration capabilities of individuals during a choice navigation task. This task assessed navigation strategies in open space while individuals avoided colliding with two vertical ...
Baker, Carmen, Campos, Jennifer, Ph.D, Cinelli, Michael E, Ph.D.   +2 more
core   +1 more source