Results 1 to 10 of about 886,649 (291)
Embryonic cranial cartilage defects in the Fgfr3Y367C/+ mouse model of achondroplasia
The Anatomical Record, EarlyView., 2023 Abstract Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects.
Susan M. Motch Perrine +9 more
wiley +1 more source
AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury
, 2022 Hepatology, EarlyView.
Robert J. Fontana +6 more
wiley +1 more source
Growth Charts for Children With Beckwith–Wiedemann Spectrum
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas +11 more
wiley +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic weakness with or without associated complex neurological symptoms.
Qingqing Wang, Manikum Moodley
wiley +1 more source
Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development
Developmental Dynamics, EarlyView.Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin +8 more
wiley +1 more source
Head &Neck, EarlyView.ABSTRACT Background Data connecting PTEN mutations with thyroid cancer risk for indeterminate nodules remain limited due to the rare nature of these mutations. The aim of this study was to determine the relationship between PTEN mutations identified in cytologically indeterminate nodules and final pathology and clinical outcomes.
Lauren E. Schlegel +5 more
wiley +1 more source
Beta cells to brain cells: The pivotal role of insulin and glucose metabolism in Alzheimer's disease
Neuroprotection, EarlyView.Common metabolic, histochemical, and molecular pathologies: Type 2 diabetes and dementia. Abstract The risk factors and neuropathologies of cognitive decline and the onset and progression of dementia‐related disorders were, until recently, obtuse. A critical predisposing factor to Alzheimer's disease (AD) that has emerged is glucose dysmetabolism.
Stanley S. Schwartz +3 more
wiley +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Accurate determination of B/T‐cell lineage and the presence of the ETV6–RUNX1 translocation is critical for diagnosing acute lymphoblastic leukemia (ALL), as these factors influence treatment decisions and outcomes. However, these diagnostic processes often rely on advanced tools unavailable in low‐resource settings, creating a need
Arkadi Piven +6 more
wiley +1 more source
Pest Management Science, EarlyView.The mutation G328A (R allele) and a novel heterogeneous duplication of the acetylcholinesterase gene (RS haplotype, one of the copies bearing the mutation G328A and the other copy non‐mutated), both accounting for malathion resistance, were widely distributed in Spanish Ceratitis capitata populations when malathion was used (2003–2008). Their frequency
Francisco Couso‐Ferrer +6 more
wiley +1 more source