Results 181 to 190 of about 4,422 (249)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT This article presents the development of a five‐phase Indigenous Data Governance (IDGov) Framework in Australia, focusing on partnerships between the Aboriginal Community Controlled Health Organisation (ACCHO) sector and non‐Indigenous health entities.
Jacob Prehn +4 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Olfactory neuroblastoma (ONB) exhibits variable recurrence patterns, with significant late recurrences occurring years after treatment. We investigated cutoff periods to define late recurrence and identified predictors that distinguish patients at risk of late recurrence from those considered cured.
Alexandria Harris +23 more
wiley +1 more source
SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells
Animal Models and Experimental Medicine, EarlyView.The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang +6 more
wiley +1 more source
Refining a preclinical model of viral myocarditis in accordance with biotech standards
Animal Models and Experimental Medicine, EarlyView.This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen +9 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Mouse metabolic and behavioral phenotypes are tightly linked to strain, age and disease state, with distinct dysregulation in each disease model, underscoring the need for standardized preclinical experimental conditions. Abstract Background Metabolic and behavioral traits in mice exhibit substantial variability across strains, ages, and disease states,
Jiacheng Zeng +17 more
wiley +1 more source
Annals of Neurology, EarlyView.Objectives Nerve transfer is a promising intervention for restoring hand and upper limb function after cervical spinal cord injury (SCI), but the timeline of neurophysiological recovery in humans remains unclear. This study aimed to define recovery profiles after nerve transfers to restore upper limb function.
Kyle J. Missen +14 more
wiley +1 more source
Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System
Annals of Neurology, EarlyView.Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti +17 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen +3 more
wiley +1 more source