Results 201 to 210 of about 258,381 (291)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Reduced Bioactive Microbial Products (Pathogen-Associated Molecular Patterns) Contribute to Dysregulated Immune Responses and Impaired Healing in Infected Wounds in Mice with Diabetes. [PDF]

J Invest Dermatol
Roy R, Mahmud F, Zayas J, Kuzel TM, Reiser J, Shafikhani SH.   +5 more
europepmc   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Comparative Analysis of Choroid Plexus Volume Between MOG Antibody Associated Disease and Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Choroid plexus volume (CPV) has been proposed as a neuro‐immunological marker of multiple sclerosis (MS), but its relevance in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD) remains uncertain. We analyzed CPV in 43 individuals with MOGAD, 48 with MS, and 44 healthy controls using a Bayesian Gaussian mixture modeling ...
Jae‐Won Hyun, Shaun G. Hong, Na Young Park, Su‐Hyun Kim, Ho Jin Kim   +4 more
wiley   +1 more source

[Correlation between pathogen-associated molecular patterns and periodontitis]. [PDF]

Hua Xi Kou Qiang Yi Xue Za Zhi, 2016
Ying X, Yue H, Qi T, Wenhuan B, Hongchen S.   +4 more
europepmc   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

CARMA2sh and ULK2 control pathogen-associated molecular patterns recognition in human keratinocytes: psoriasis-linked CARMA2sh mutants escape ULK2 censorship. [PDF]

Cell Death Dis, 2017
Scudiero I, Mazzone P, D'Andrea LE, Ferravante A, Zotti T, Telesio G, De Rubis G, Reale C, Pizzulo M, Muralitharan S, Vito P, Stilo R.   +11 more
europepmc   +1 more source

Do genetic susceptibility, Toll-like receptors, and pathogen-associated molecular patterns modulate the effects of wear? [PDF]

Clin Orthop Relat Res, 2014
Greenfield EM.
europepmc   +1 more source

Designing Polymer Nanocomposites for X‐Ray Shielding: Mechanisms, Architectures, and Scalable Processing

Advanced Engineering Materials, EarlyView.
This review highlights advances in lightweight, lead‐free polymer nanocomposites for diagnostic X‐ray shielding. By linking filler chemistry, dispersion, architecture, and photon interaction mechanisms, it establishes structure–performance relationships guiding material design.
Aklilu G. Messele, Hossein Ipakchi, Tizazu H. Mekonnen   +2 more
wiley   +1 more source

Differential response of tomato genotypes to Xanthomonas-specific pathogen-associated molecular patterns and correlation with bacterial spot (Xanthomonas perforans) resistance. [PDF]

Hortic Res, 2016
Bhattarai K, Louws FJ, Williamson JD, Panthee DR.   +3 more
europepmc   +1 more source