ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
Chromosomal-scale and haplotype-resolved genome assembly of the first Trinitario hybrid cacao ICS 1. [PDF]
Feng X +9 more
europepmc +1 more source
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is managed after sinus surgery with topical corticosteroids. Given limited distribution of nasal steroid sprays, patients have the option of either steroid nasal irrigation (SNI) or exhalation delivery system with fluticasone (EDS‐FLU).
Daniel Xiao +3 more
wiley +1 more source
Exploring the association between asthma-related knowledge among caregivers and asthma control in children. [PDF]
Chuaypanang P +5 more
europepmc +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
Developmental Trajectories and Influencing Factors of Inhaled Corticosteroid (ICS) Adherence in Pediatric Asthma Under a Remote Collaborative Management model-Latent Class Growth Analysis. [PDF]
Li W +7 more
europepmc +1 more source
Durable but impaired humoral and cellular immune responses against monkeypox virus in people with HIV over 18 months. [PDF]
Xing L +13 more
europepmc +1 more source
Physics-guided contrastive temporal graph learning for anomaly detection and root-cause localization in industrial control systems. [PDF]
Rajalakshmi M, Velmurugan T.
europepmc +1 more source
As-needed inhaled corticosteroids in asthma: from evidence to implementation. [PDF]
Merrell E, Khurana S.
europepmc +1 more source

