Results 141 to 150 of about 117,734 (302)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Understanding Inequality Within a Personalised System of Disability Support: Australian Children With Disabilities' Unmet Support Needs

Australian Journal of Social Issues, EarlyView.
ABSTRACT Disability support has shifted towards models of personalised care, which critics argue may contribute to increased inequalities. There is limited systematic evidence investigating inequalities in support among children with disabilities. To investigate inequalities in support, a survey of parents of children with disabilities aged 2–17 was ...
Martin O'Flaherty, Jessica Hill, Jennifer Smith‐Merry   +2 more
wiley   +1 more source

Reference tracking and non-canonical referring expressions in Indonesian [PDF]

, 2016
Adams, Nikki B., Brugman, Claudia M, Conners, Thomas J   +2 more
core   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Optional Omissions in an Optionally Null Subject Language

, 2004
"In this paper we report the results of a study investigating the phenomenon of subject and direct object omissions in child Russian. While omissions have been extensively studied in a number of other languages, they all focused on either non-pro-drop languages (e.g.
Gordishevsky, Galina, Avrutin, Sergey
openaire   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +1 more source

Multi‐modal integration of protein interactomes with genomic and molecular data discovers distinct RA endotypes

Arthritis &Rheumatology, Accepted Article.
Summary Background Rheumatoid arthritis (RA) is a heterogeneous autoimmune disease characterized by clinical and molecular heterogeneity, notably in the presence of anti‐cyclic citrullinated peptide antibodies (CCP). CCP‐positive (CCP+) RA patients exhibit more severe disease progression and distinct treatment responses compared to CCP‐negative (CCP ...
Javad Rahimikollu, Priyamvada Guha Roy, Akash Kishore, Danica Morgan Lee, Lauren A Vanderlinden, Kiran Nazarali, Fan Zhang, Dana P Ascherman, Daniella M Schwartz, Larry Moreland, Jishnu Das   +10 more
wiley   +1 more source

Null Subjects of Power: The Politics of Absence in Executable Language

SSRN Electronic Journal
This article introduces the concept of Null Subjects of Power, where authority operates through the absence of an explicit agent. While in linguistics the null subject is a grammatical category, in predictive societies it becomes a political one: institutions obey rules without a speaker, mandates without an issuer, and decisions without a subject ...
openaire   +1 more source

Annotating aspects in text and image: A new task and dataset for multimodal aspect‐based sentiment analysis

Journal of the Association for Information Science and Technology, EarlyView.
Abstract Aspect‐Based Sentiment Analysis (ABSA) has evolved from textual analysis to a multimodal paradigm, integrating visual information to capture nuanced sentiments. Despite advancements, existing Multimodal ABSA (MABSA) research remains limited in granularity, which focuses on either coarse‐level categories or named entities, neglecting fine ...
Li Yang, Jia Yang, Jin‐Cheon Na, Jianfei Yu   +3 more
wiley   +1 more source

Mismatching Expressions: Spatiotemporal and Kinematic Differences in Autistic and Non‐Autistic Facial Expressions

Autism Research, EarlyView.
ABSTRACT Preliminary studies suggest there are differences in the facial expressions produced by autistic and non‐autistic individuals. However, it is unclear what specifically is different, whether such differences remain after controlling for facial morphology and alexithymia, and whether production differences relate to perception differences ...
Connor T. Keating, Sophie Sowden‐Carvalho, Holly O′Donoghue, Jennifer L. Cook   +3 more
wiley   +1 more source